Hakon Hakonarson

Hakon Hakonarson, M.D., Ph.D. is Director of the Center for Applied Genomics and is also an associate professor of pediatrics at The University of Pennsylvania School of Medicine. He leads a $40 million commitment from CHOP to genotype approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature and Science. Dr. Hakonarson has previously held several senior posts within the biopharmaceutical industry, directing a number of genomics and pharmacogenomics projects as vice president of Clinical Sciences and Development at deCODE genetics, Inc.

Dr. Hakonarson has been the principal investigator (PI) on several National Institute of Health-sponsored grants, and is currently co-PI on Neurodevelopmental Genomics: Trajectories of Complex Phenotypes, the largest project ever supported by the National Institute of Mental Health. He has published numerous high-impact papers on genomic discoveries and their translations in some of the most prestigious scientific medical journals, including Nature, Nature Genetics and The New England Journal of Medicine. Time Magazine listed Dr. Hakonarson’s autism gene discovery project, reported in Nature in 2009, among the top 10 medical breakthroughs of that year.

With over 12 years of experience in pioneering genomics research and genome-wide mapping and association studies, Dr. Hakonarson has intimate knowledge of the complexities of large-scale genomics projects and has put together the necessary infrastructure and workflow processes to unravel these complexities.


CAG Publications

A Trans-ethnic Genome-wide Association Study Identifies Gender Specific Loci Influencing Pediatric aBMD and BMC at the Distal Radius.
Chesi A, Mitchell JA, Kalkwarf HJ, Bradfield JP, Lappe JM, McCormack SE, Gilsanz V, Oberfield SE, Hakonarson H, Shepherd JA, Kelly A, Zemel BS, Grant SF.
Hum Mol Genet. 2015 Jun 3. doi:pii: ddv210. [Epub ahead of print]

Connectome-wide network analysis of youth with Psychosis-Spectrum symptoms.
Satterthwaite TD, Vandekar SN, Wolf DH, Bassett DS, Ruparel K, Shehzad Z, Craddock RC, Shinohara RT, Moore TM, Gennatas ED, Jackson C, Roalf DR, Milham MP, Calkins ME, Hakonarson H, Gur RC, Gur RE.
Mol Psychiatry. 2015 Jun 2. doi: 10.1038/mp.2015.66. [Epub ahead of print]

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, Forsgren L, Kirchheiner J, Kurz A, Larsen JP, Liebsch M, Linder J, Morrison KE, et al.
Alzheimers Dement. 2015 Apr 30. doi:pii: S1552-5260(15)00122-3. 10.1016/j.jalz.2014.12.009. [Epub ahead of print]

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, et al.
BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0.

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.
Rodriguez S, Gaunt TR, Guo Y, Zheng J, Barnes MR, Tang W, Danish F, Johnson A, Castillo BA, Li YR, Hakonarson H, Buxbaum SG, Palmer T, Tsai MY, Lange LA, Ebrahim S, Davey Smith G, Lawlor DA, Folsom AR, Hoogeveen R, Reiner A, Keating B, et al.
Eur J Hum Genet. 2015 Apr 29. doi: 10.1038/ejhg.2015.63. [Epub ahead of print]

Stress and Bronchodilator Response in Children with Asthma.
Brehm JM, Ramratnam SK, Tse SM, Croteau-Chonka DC, Pino-Yanes M, Rosas-Salazar C, Litonjua AA, Raby BA, Boutaoui N, Han YY, Chen W, Forno E, Marsland AL, Nugent NR, Eng C, Colón-Semidey A, Alvarez M, Acosta-Pérez E, Spear ML, Martinez FD, Avila L, Weiss ST, et al.
Am J Respir Crit Care Med. 2015 Apr 28. [Epub ahead of print]

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.
Li J, Jørgensen SF, Maggadottir SM, Bakay M, Warnatz K, Glessner J, Pandey R, Salzer U, Schmidt RE, Perez E, Resnick E, Goldacker S, Buchta M, Witte T, Padyukov L, Videm V, Folseraas T, Atschekzei F, Elder JT, Nair RP, Winkelmann J, Gieger C, et al.
Nat Commun. 2015 Apr 20;6:6804. doi: 10.1038/ncomms7804.

Genome-wide association study of serum minerals levels in children of different ethnic background.
Chang X, Li J, Guo Y, Wei Z, Mentch FD, Hou C, Zhao Y, Qiu H, Kim C, Sleiman PM, Hakonarson H.
PLoS One. 2015;10(4):e0123499. doi: 10.1371/journal.pone.0123499.

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.
Calkins ME, Merikangas KR, Moore TM, Burstein M, Behr MA, Satterthwaite TD, Ruparel K, Wolf DH, Roalf DR, Mentch FD, Qiu H, Chiavacci R, Connolly JJ, Sleiman PM, Gur RC, Hakonarson H, Gur RE.
J Child Psychol Psychiatry. 2015 Apr 8. doi: 10.1111/jcpp.12416. [Epub ahead of print]

The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.
Satterthwaite TD, Connolly JJ, Ruparel K, Calkins ME, Jackson C, Elliott MA, Roalf DR, Ryan Hopsona KP, Behr M, Qiu H, Mentch FD, Chiavacci R, Sleiman PM, Gur RC, Hakonarson H, Gur RE.
Neuroimage. 2015 Mar 31. doi:pii: S1053-8119(15)00252-9. 10.1016/j.neuroimage.2015.03.056. [Epub ahead of print]

Functional neuroimaging abnormalities in youth with psychosis spectrum symptoms.
Wolf DH, Satterthwaite TD, Calkins ME, Ruparel K, Elliott MA, Hopson RD, Jackson CT, Prabhakaran K, Bilker WB, Hakonarson H, Gur RC, Gur RE.
JAMA Psychiatry. 2015 May 1;72(5):456-65. doi: 10.1001/jamapsychiatry.2014.3169.

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.
Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, Hallmans G, Varga TV, Kardia SL, Smith JA, Zhao W, Faul JD, Weir D, et al.
Hum Mol Genet. 2015 Jun 15;24(12):3582-94. doi: 10.1093/hmg/ddv097. Epub 2015 Mar 17.

A novel Alzheimer disease locus located near the gene encoding tau protein.
Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, et al.
Mol Psychiatry. 2015 Mar 17. doi: 10.1038/mp.2015.23. [Epub ahead of print]

Circulating brain-derived neurotrophic factor concentrations and the risk of cardiovascular disease in the community.
Kaess BM, Preis SR, Lieb W, Beiser AS, Yang Q, Chen TC, Hengstenberg C, Erdmann J, Schunkert H, Seshadri S, Vasan RS; CARDIoGRAM, Assimes TL, Deloukas P, Holm H, Kathiresan S, König IR, McPherson R, Reilly MP, Roberts R, Samani NJ, Stewart AF.
J Am Heart Assoc. 2015 Mar 11;4(3):e001544. doi: 10.1161/JAHA.114.001544.

Comorbidity of physical and mental disorders in the neurodevelopmental genomics cohort study.
Merikangas KR, Calkins ME, Burstein M, He JP, Chiavacci R, Lateef T, Ruparel K, Gur RC, Lehner T, Hakonarson H, Gur RE.
Pediatrics. 2015 Apr;135(4):e927-38. doi: 10.1542/peds.2014-1444. Epub 2015 Mar 9.

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, Farber E, Bonnie JK, Szpak M, Schofield E, Achuthan P, Guo H, Fortune MD, Stevens H, Walker NM, Ward LD, Kundaje A, Kellis M, Daly MJ, Barrett JC, Cooper JD, Deloukas P; et al.
Nat Genet. 2015 Apr;47(4):381-6. doi: 10.1038/ng.3245. Epub 2015 Mar 9.

Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis.
Interleukin 1 Genetics Consortium.
Lancet Diabetes Endocrinol. 2015 Apr;3(4):243-53. doi: 10.1016/S2213-8587(15)00034-0. Epub 2015 Feb 26.

Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H, Christodoulou J.
Clin Genet. 2015 Feb 20. doi: 10.1111/cge.12573. [Epub ahead of print]

Rare variants at 16p11.2 are associated with common variable immunodeficiency.
Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H.
J Allergy Clin Immunol. 2015 Jun;135(6):1569-77. doi: 10.1016/j.jaci.2014.12.1939. Epub 2015 Feb 10.

Genetic studies of body mass index yield new insights for obesity biology.
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, Kutalik Z, Luan J, Mägi R, Randall JC, Winkler TW, Wood AR, Workalemahu T, et al.
Nature. 2015 Feb 12;518(7538):197-206. doi: 10.1038/nature14177.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, et al.
Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.

Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.
Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH.
Am J Hum Genet. 2015 Feb 5;96(2):283-94. doi: 10.1016/j.ajhg.2014.12.006. Epub 2015 Jan 29.

Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity.
Roy SM, Chesi A, Mentch F, Xiao R, Chiavacci R, Mitchell JA, Kelly A, Hakonarson H, Grant SF, Zemel BS, McCormack SE.
J Clin Endocrinol Metab. 2015 Apr;100(4):1551-60. doi: 10.1210/jc.2014-4028. Epub 2015 Jan 30.

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.
Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium.
Nat Neurosci. 2015 Feb;18(2):199-209. doi: 10.1038/nn.3922. Epub 2015 Jan 19.

High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.
Goyette P, Boucher G, Mallon D, Ellinghaus E, Jostins L, Huang H, Ripke S, Gusareva ES, Annese V, Hauser SL, Oksenberg JR, Thomsen I, Leslie S; International Inflammatory Bowel Disease Genetics Consortium; Australia and New Zealand IBDGC; Belgium IBD Genetics Consortium; Italian Group for IBD Genetic Consortium; NIDDK Inflammatory Bowel Disease Genetics Consortium; United Kingdom IBDGC; Wellcome Trust Case Control Consortium; Quebec IBD Genetics Consortium, Daly MJ, et al.
Nat Genet. 2015 Feb;47(2):172-9. doi: 10.1038/ng.3176. Epub 2015 Jan 5.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, Engel A, Hakonarson H, Christodoulou J, Xu X.
Neuromuscul Disord. 2015 Mar;25(3):257-61. doi: 10.1016/j.nmd.2014.11.017. Epub 2014 Dec 10.

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J.
Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2.

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, et al.
Mol Genet Metab. 2015 Mar;114(3):388-96. doi: 10.1016/j.ymgme.2014.11.016. Epub 2014 Dec 4. Review.

Convergent genetic and expression data implicate immunity in Alzheimer's disease.
International Genomics of Alzheimer's Disease Consortium (IGAP); International Genomics of Alzheimer's Disease Consortium IGAP.
Alzheimers Dement. 2015 Jun;11(6):658-71. doi: 10.1016/j.jalz.2014.05.1757. Epub 2014 Dec 20.

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.
Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E; Alzheimer's Disease Genetics Consortium, Lin CF, Dombroski BA, et al.
JAMA Neurol. 2015 Feb;72(2):209-16. doi: 10.1001/jamaneurol.2014.2157.

Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.
St Pourcain B, Haworth CM, Davis OS, Wang K, Timpson NJ, Evans DM, Kemp JP, Ronald A, Price T, Meaburn E, Ring SM, Golding J, Hakonarson H, Plomin R, Davey Smith G.
Hum Genet. 2015 Jun;134(6):539-51. doi: 10.1007/s00439-014-1514-5. Epub 2014 Dec 17.

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.
Sgariglia F, Pedrini E, Bradfield JP, Bhatti TR, D'Adamo P, Dormans JP, Gunawardena AT, Hakonarson H, Hecht JT, Sangiorgi L, Pacifici M, Enomoto-Iwamoto M, Grant SF.
Bone. 2015 Mar;72:123-7. doi: 10.1016/j.bone.2014.11.024. Epub 2014 Dec 9.

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C.
Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9.

Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis.
Ellis JA, Scurrah KJ, Li YR, Ponsonby AL, Chavez RA, Pezic A, Dwyer T, Akikusa JD, Allen RC, Becker ML, Thompson SD, Lie BA, Flatø B, Førre O, Punaro M, Wise C, Finkel TH, Hakonarson H, Munro JE.
J Steroid Biochem Mol Biol. 2015 Jan;145:113-20. doi: 10.1016/j.jsbmb.2014.10.012. Epub 2014 Oct 18.

Modulatory effects of TAOK3 variants on morphine requirement in acute postoperative pain: an early genome wide association study contribution to the field of pediatric pain.
Cook-Sather SD, Li J, Hakonarson H.
Pain. 2014 Nov;155(11):2435-7. doi: 10.1016/j.pain.2014.09.010. Epub 2014 Nov 18. No abstract available.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH.
J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20.

GWAS identifies four novel eosinophilic esophagitis loci.
Sleiman PM, Wang ML, Cianferoni A, Aceves S, Gonsalves N, Nadeau K, Bredenoord AJ, Furuta GT, Spergel JM, Hakonarson H.
Nat Commun. 2014 Nov 19;5:5593. doi: 10.1038/ncomms6593.

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.
Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Mateson AB, Robbins AK, Li J, Akins RE Jr, Hakonarson H, Devoto M.
J Urol. 2015 May;193(5):1637-45. doi: 10.1016/j.juro.2014.10.097. Epub 2014 Oct 25.

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A.
J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.
Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.

Src kinase as a mediator of convergent molecular abnormalities leading to NMDAR hypoactivity in schizophrenia.
Banerjee A, Wang HY, Borgmann-Winter KE, MacDonald ML, Kaprielian H, Stucky A, Kvasic J, Egbujo C, Ray R, Talbot K, Hemby SE, Siegel SJ, Arnold SE, Sleiman P, Chang X, Hakonarson H, Gur RE, Hahn CG.
Mol Psychiatry. 2014 Oct 21. doi: 10.1038/mp.2014.115. [Epub ahead of print]

Common genetic variants in NEFL influence gene expression and neuroblastoma risk.
Capasso M, Diskin S, Cimmino F, Acierno G, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris JM.
Cancer Res. 2014 Dec 1;74(23):6913-24. doi: 10.1158/0008-5472.CAN-14-0431. Epub 2014 Oct 13.

Defining the role of common variation in the genomic and biological architecture of adult human height.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, et al.
Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5.

A novel common variant in DCST2 is associated with length in early life and height in adulthood.
van der Valk RJ, Kreiner-Møller E, Kooijman MN, Guxens M, Stergiakouli E, Sääf A, Bradfield JP, Geller F, Hayes MG, Cousminer DL, Körner A, Thiering E, Curtin JA, Myhre R, Huikari V, Joro R, Kerkhof M, Warrington NM, Pitkänen N, Ntalla I, Horikoshi M, Veijola R, et al.
Hum Mol Genet. 2015 Feb 15;24(4):1155-68. doi: 10.1093/hmg/ddu510. Epub 2014 Oct 3.

The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort.
Calkins ME, Moore TM, Merikangas KR, Burstein M, Satterthwaite TD, Bilker WB, Ruparel K, Chiavacci R, Wolf DH, Mentch F, Qiu H, Connolly JJ, Sleiman PA, Hakonarson H, Gur RC, Gur RE.
World Psychiatry. 2014 Oct;13(3):296-305. doi: 10.1002/wps.20152.

HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials.
Swerdlow DI, Preiss D, Kuchenbaecker KB, Holmes MV, Engmann JE, Shah T, Sofat R, Stender S, Johnson PC, Scott RA, Leusink M, Verweij N, Sharp SJ, Guo Y, Giambartolomei C, Chung C, Peasey A, Amuzu A, Li K, Palmen J, Howard P, Cooper JA, et al.
Lancet. 2015 Jan 24;385(9965):351-61. doi: 10.1016/S0140-6736(14)61183-1. Epub 2014 Sep 24.

Dynamic Bayesian testing of sets of variants in complex diseases.
Zhang Y, Ghosh S, Hakonarson H.
Genetics. 2014 Nov;198(3):867-78. doi: 10.1534/genetics.114.167403. Epub 2014 Sep 11.

Etiology of autism spectrum disorder: a genomics perspective.
Connolly JJ, Hakonarson H.
Curr Psychiatry Rep. 2014 Nov;16(11):501. doi: 10.1007/s11920-014-0501-9. Review.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, et al.
Circ Res. 2014 Oct 24;115(10):884-96. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM.
Blood. 2014 Oct 30;124(18):2767-74. doi: 10.1182/blood-2014-08-596445. Epub 2014 Sep 9.

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.
Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, et al.
JAMA Neurol. 2014 Nov;71(11):1394-404. doi: 10.1001/jamaneurol.2014.1491. Erratum in: JAMA Neurol. 2014 Nov;71(11):1457.

G heteroplasmy causes abrupt transcriptional reprogramming.>Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.
Picard M, Zhang J, Hancock S, Derbeneva O, Golhar R, Golik P, O'Hearn S, Levy S, Potluri P, Lvova M, Davila A, Lin CS, Perin JC, Rappaport EF, Hakonarson H, Trounce IA, Procaccio V, Wallace DC.
Proc Natl Acad Sci U S A. 2014 Sep 23;111(38):E4033-42. doi: 10.1073/pnas.1414028111. Epub 2014 Sep 5.

Psychometric properties of the Penn Computerized Neurocognitive Battery.
Moore TM, Reise SP, Gur RE, Hakonarson H, Gur RC.
Neuropsychology. 2015 Mar;29(2):235-46. doi: 10.1037/neu0000093. Epub 2014 Sep 1.

B-37The Relationship between Body Mass Index and Executive Function from Late Childhood through Adolescence.
Zamzow J, Culnan E, Spiers M, Calkins M, Satterthwaite T, Ruparel K, Abrams D, Chiavacci R, Hakonarson H, Gur R.
Arch Clin Neuropsychol. 2014 Sep;29(6):550. doi: 10.1093/arclin/acu038.125.

B-36Relationships between Body Mass Index and Social Cognition among 8-19 Year-Olds.
Culnan E, Zamzow J, Spiers M, Calkins M, Satterthwaite T, Ruparel K, Abrams D, Chiavacci R, Hakonarson H, Gur R.
Arch Clin Neuropsychol. 2014 Sep;29(6):550. doi: 10.1093/arclin/acu038.124.

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
Mitchell LE, Agopian AJ, Bhalla A, Glessner JT, Kim CE, Swartz MD, Hakonarson H, Goldmuntz E.
Hum Mol Genet. 2015 Jan 1;24(1):265-73. doi: 10.1093/hmg/ddu420. Epub 2014 Aug 18.

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address: This email address is being protected from spambots. You need JavaScript enabled to view it..
Lancet Neurol. 2014 Sep;13(9):893-903. doi: 10.1016/S1474-4422(14)70171-1. Epub 2014 Jul 30.

TUBB4A de novo mutations cause isolated hypomyelination.
Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A.
Neurology. 2014 Sep 2;83(10):898-902. doi: 10.1212/WNL.0000000000000754. Epub 2014 Aug 1.

A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.
Pellegrino R, Kavakli IH, Goel N, Cardinale CJ, Dinges DF, Kuna ST, Maislin G, Van Dongen HP, Tufik S, Hogenesch JB, Hakonarson H, Pack AI.
Sleep. 2014 Aug 1;37(8):1327-36. doi: 10.5665/sleep.3924.

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.
White PS, Xie HM, Werner P, Glessner J, Latney B, Hakonarson H, Goldmuntz E.
Birth Defects Res A Clin Mol Teratol. 2014 Dec;100(12):951-64. doi: 10.1002/bdra.23279. Epub 2014 Jul 26.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.
Clin Experiment Ophthalmol. 2015 Mar;43(2):132-8. doi: 10.1111/ceo.12391. Epub 2014 Oct 2.

The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort.
Robinson EB, Kirby A, Ruparel K, Yang J, McGrath L, Anttila V, Neale BM, Merikangas K, Lehner T, Sleiman PM, Daly MJ, Gur R, Gur R, Hakonarson H.
Mol Psychiatry. 2015 Apr;20(4):454-8. doi: 10.1038/mp.2014.65. Epub 2014 Jul 15.

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
Holmes MV, Dale CE, Zuccolo L, Silverwood RJ, Guo Y, Ye Z, Prieto-Merino D, Dehghan A, Trompet S, Wong A, Cavadino A, Drogan D, Padmanabhan S, Li S, Yesupriya A, Leusink M, Sundstrom J, Hubacek JA, Pikhart H, Swerdlow DI, Panayiotou AG, Borinskaya SA, et al.
BMJ. 2014 Jul 10;349:g4164. doi: 10.1136/bmj.g4164.

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H.
JIMD Rep. 2014;14:119. doi: 10.1007/8904_2014_314. Epub 2014 Jun 29. No abstract available.

The diabetes susceptibility gene Clec16a regulates mitophagy.
Soleimanpour SA, Gupta A, Bakay M, Ferrari AM, Groff DN, Fadista J, Spruce LA, Kushner JA, Groop L, Seeholzer SH, Kaufman BA, Hakonarson H, Stoffers DA.
Cell. 2014 Jun 19;157(7):1577-90. doi: 10.1016/j.cell.2014.05.016.

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.
Hadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J; AGP Consortium, Glessner J, Hakonarson H.
Nat Commun. 2014 Jun 13;5:4074. doi: 10.1038/ncomms5074.

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, et al.
PLoS One. 2014;9(6):e94661. doi: 10.1371/journal.pone.0094661.

Impact of puberty on the evolution of cerebral perfusion during adolescence.
Satterthwaite TD, Shinohara RT, Wolf DH, Hopson RD, Elliott MA, Vandekar SN, Ruparel K, Calkins ME, Roalf DR, Gennatas ED, Jackson C, Erus G, Prabhakaran K, Davatzikos C, Detre JA, Hakonarson H, Gur RC, Gur RE.
Proc Natl Acad Sci U S A. 2014 Jun 10;111(23):8643-8. doi: 10.1073/pnas.1400178111. Epub 2014 May 27.

TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population.
Cook-Sather SD, Li J, Goebel TK, Sussman EM, Rehman MA, Hakonarson H.
Pain. 2014 Sep;155(9):1773-83. doi: 10.1016/j.pain.2014.05.032. Epub 2014 Jun 5.

Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission.
Karayannis T, Au E, Patel JC, Kruglikov I, Markx S, Delorme R, Héron D, Salomon D, Glessner J, Restituito S, Gordon A, Rodriguez-Murillo L, Roy NC, Gogos JA, Rudy B, Rice ME, Karayiorgou M, Hakonarson H, Keren B, Huguet G, Bourgeron T, Hoeffer C, et al.
Nature. 2014 Jul 10;511(7508):236-40.

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes.
Almoguera B, Vazquez L, Connolly JJ, Bradfield J, Sleiman P, Keating B, Hakonarson H.
Front Genet. 2014;5:96. doi: 10.3389/fgene.2014.00096.

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Mejia-Santana H, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, Atzmon G, Burns ER, Ostrer H, Hakonarson H, Bergman A, Barzilai N, Darvasi A, et al.
Hum Mol Genet. 2014 Sep 1;23(17):4693-702. doi: 10.1093/hmg/ddu158. Epub 2014 May 19.

The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa.
Yilmaz Z, Kaplan AS, Tiwari AK, Levitan RD, Piran S, Bergen AW, Kaye WH, Hakonarson H, Wang K, Berrettini WH, Brandt HA, Bulik CM, Crawford S, Crow S, Fichter MM, Halmi KA, Johnson CL, Keel PK, Klump KL, Magistretti P, Mitchell JE, Strober M, et al.
J Psychiatr Res. 2014 Aug;55:77-86. doi: 10.1016/j.jpsychires.2014.04.005. Epub 2014 Apr 16.

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
Li D, Opas EE, Tuluc F, Metzger DL, Hou C, Hakonarson H, Levine MA.
J Clin Endocrinol Metab. 2014 Sep;99(9):E1774-83. doi: 10.1210/jc.2014-1029. Epub 2014 May 13.

Patient genotypes impact survival after surgery for isolated congenital heart disease.
Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Gaynor JW, Jarvik GP.
Ann Thorac Surg. 2014 Jul;98(1):104-10; discussion 110-1. doi: 10.1016/j.athoracsur.2014.03.017. Epub 2014 May 6.

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.
Sleiman P, Bradfield J, Mentch F, Almoguera B, Connolly J, Hakonarson H.
Front Genet. 2014;5:105. doi: 10.3389/fgene.2014.00105.

Genome-wide association study of maternal and inherited loci for conotruncal heart defects.
Agopian AJ, Mitchell LE, Glessner J, Bhalla AD, Sewda A, Hakonarson H, Goldmuntz E.
PLoS One. 2014;9(5):e96057. doi: 10.1371/journal.pone.0096057.

Transcriptome profiling of human ulcerative colitis mucosa reveals altered expression of pathways enriched in genetic susceptibility loci.
Cardinale CJ, Wei Z, Li J, Zhu J, Gu M, Baldassano RN, Grant SF, Hakonarson H.
PLoS One. 2014;9(5):e96153. doi: 10.1371/journal.pone.0096153.

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.
Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA.
Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30.

Within-individual variability in neurocognitive performance: age- and sex-related differences in children and youths from ages 8 to 21.
Roalf DR, Gur RE, Ruparel K, Calkins ME, Satterthwaite TD, Bilker WB, Hakonarson H, Harris LJ, Gur RC.
Neuropsychology. 2014 Jul;28(4):506-18. doi: 10.1037/neu0000067. Epub 2014 Apr 28.

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.
Cousminer DL, Stergiakouli E, Berry DJ, Ang W, Groen-Blokhuis MM, Körner A, Siitonen N, Ntalla I, Marinelli M, Perry JR, Kettunen J, Jansen R, Surakka I, Timpson NJ, Ring S, Mcmahon G, Power C, Wang C, Kähönen M, Viikari J, Lehtimäki T, Middeldorp CM, et al.
Hum Mol Genet. 2014 Aug 15;23(16):4452-64. doi: 10.1093/hmg/ddu150. Epub 2014 Apr 25.

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, et al.
Am J Hum Genet. 2014 May 1;94(5):677-94. doi: 10.1016/j.ajhg.2014.03.018. Epub 2014 Apr 24.

Reply to Joel and Tarrasch: On misreading and shooting the messenger.
Ingalhalikar M, Smith A, Parker D, Satterthwaite TD, Elliott MA, Ruparel K, Hakonarson H, Gur RE, Gur RC, Verma R.
Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):E638. No abstract available.

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.
Connolly JJ, Glessner JT, Almoguera B, Crosslin DR, Jarvik GP, Sleiman PM, Hakonarson H.
Front Genet. 2014;5:51. doi: 10.3389/fgene.2014.00051. Review.

Linked Sex Differences in Cognition and Functional Connectivity in Youth.
Satterthwaite TD, Wolf DH, Roalf DR, Ruparel K, Erus G, Vandekar S, Gennatas ED, Elliott MA, Smith A, Hakonarson H, Verma R, Davatzikos C, Gur RE, Gur RC.
Cereb Cortex. 2014 Apr 25. [Epub ahead of print]

Rare variants in TP53 and susceptibility to neuroblastoma.
Diskin SJ, Capasso M, Diamond M, Oldridge DA, Conkrite K, Bosse KR, Russell MR, Iolascon A, Hakonarson H, Devoto M, Maris JM.
J Natl Cancer Inst. 2014 Apr;106(4):dju047. doi: 10.1093/jnci/dju047. Epub 2014 Mar 14.

Comprehensive analysis of gene expression in human retina and supporting tissues.
Li M, Jia C, Kazmierkiewicz KL, Bowman AS, Tian L, Liu Y, Gupta NA, Gudiseva HV, Yee SS, Kim M, Dentchev T, Kimble JA, Parker JS, Messinger JD, Hakonarson H, Curcio CA, Stambolian D.
Hum Mol Genet. 2014 Aug 1;23(15):4001-14. doi: 10.1093/hmg/ddu114. Epub 2014 Mar 14.

Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.
Araujo AN, Moraes L, França MI, Hakonarson H, Li J, Pellegrino R, Maciel RM, Cerutti JM.
J Clin Endocrinol Metab. 2014 Jun;99(6):E1104-12. doi: 10.1210/jc.2013-2993. Epub 2014 Mar 6.

Genetic variation in genes encoding airway epithelial potassium channels is associated with chronic rhinosinusitis in a pediatric population.
Purkey MT, Li J, Mentch F, Grant SF, Desrosiers M, Hakonarson H, Toskala E.
PLoS One. 2014;9(3):e89329. doi: 10.1371/journal.pone.0089329.

Sex differences in the effect of puberty on hippocampal morphology.
Satterthwaite TD, Vandekar S, Wolf DH, Ruparel K, Roalf DR, Jackson C, Elliott MA, Bilker WB, Calkins ME, Prabhakaran K, Davatzikos C, Hakonarson H, Gur RE, Gur RC.
J Am Acad Child Adolesc Psychiatry. 2014 Mar;53(3):341-50.e1. doi: 10.1016/j.jaac.2013.12.002. Epub 2013 Dec 20.

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
St Pourcain B, Skuse DH, Mandy WP, Wang K, Hakonarson H, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Smith GD.
Mol Autism. 2014 Feb 24;5(1):18. doi: 10.1186/2040-2392-5-18.

Novel genetic approach to investigate the role of plasma secretory phospholipase A2 (sPLA2)-V isoenzyme in coronary heart disease: modified Mendelian randomization analysis using PLA2G5 expression levels.
Holmes MV, Exeter HJ, Folkersen L, Nelson CP, Guardiola M, Cooper JA, Sofat R, Boekholdt SM, Khaw KT, Li KW, Smith AJ, Van't Hooft F, Eriksson P, Franco-Cereceda A, Asselbergs FW, Boer JM, Onland-Moret NC, Hofker M, Erdmann J, Kivimaki M, Kumari M, Reiner AP, et al.
Circ Cardiovasc Genet. 2014 Apr;7(2):144-50. doi: 10.1161/CIRCGENETICS.113.000271. Epub 2014 Feb 21.

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.
Tragante V, Barnes MR, Ganesh SK, Lanktree MB, Guo W, Franceschini N, Smith EN, Johnson T, Holmes MV, Padmanabhan S, Karczewski KJ, Almoguera B, Barnard J, Baumert J, Chang YP, Elbers CC, Farrall M, Fischer ME, Gaunt TR, Gho JM, Gieger C, Goel A, et al.
Am J Hum Genet. 2014 Mar 6;94(3):349-60. doi: 10.1016/j.ajhg.2013.12.016. Epub 2014 Feb 20.

Using ancestry-informative markers to identify fine structure across 15 populations of European origin.
Huckins LM, Boraska V, Franklin CS, Floyd JA, Southam L; GCAN; WTCCC3, Sullivan PF, Bulik CM, Collier DA, Tyler-Smith C, Zeggini E, Tachmazidou I; GCAN; WTCCC3.
Eur J Hum Genet. 2014 Oct;22(10):1190-200. doi: 10.1038/ejhg.2014.1. Epub 2014 Feb 19.

Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV.
Ophthalmic Genet. 2014 Feb 19. [Epub ahead of print]

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H.
JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11.

A genome-wide association study of anorexia nervosa.
Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, et al.
Mol Psychiatry. 2014 Oct;19(10):1085-94. doi: 10.1038/mp.2013.187. Epub 2014 Feb 11.

Neurocognitive growth charting in psychosis spectrum youths.
Gur RC, Calkins ME, Satterthwaite TD, Ruparel K, Bilker WB, Moore TM, Savitt AP, Hakonarson H, Gur RE.
JAMA Psychiatry. 2014 Apr;71(4):366-74. doi: 10.1001/jamapsychiatry.2013.4190.

Hyaluronan synthase 3 variant and anthracycline-related cardiomyopathy: a report from the children's oncology group.
Wang X, Liu W, Sun CL, Armenian SH, Hakonarson H, Hageman L, Ding Y, Landier W, Blanco JG, Chen L, Quiñones A, Ferguson D, Winick N, Ginsberg JP, Keller F, Neglia JP, Desai S, Sklar CA, Castellino SM, Cherrick I, Dreyer ZE, Hudson MM, et al.
J Clin Oncol. 2014 Mar 1;32(7):647-53. doi: 10.1200/JCO.2013.50.3557. Epub 2014 Jan 27.

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.
Matsunami N, Hensel CH, Baird L, Stevens J, Otterud B, Leppert T, Varvil T, Hadley D, Glessner JT, Pellegrino R, Kim C, Thomas K, Wang F, Otieno FG, Ho K, Christensen GB, Li D, Prekeris R, Lambert CG, Hakonarson H, Leppert MF.
Mol Autism. 2014 Jan 27;5(1):5. doi: 10.1186/2040-2392-5-5.

Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis.
Holmes MV, Lange LA, Palmer T, Lanktree MB, North KE, Almoguera B, Buxbaum S, Chandrupatla HR, Elbers CC, Guo Y, Hoogeveen RC, Li J, Li YR, Swerdlow DI, Cushman M, Price TS, Curtis SP, Fornage M, Hakonarson H, Patel SR, Redline S, Siscovick DS, et al.
Am J Hum Genet. 2014 Feb 6;94(2):198-208. doi: 10.1016/j.ajhg.2013.12.014. Epub 2014 Jan 23. Erratum in: Am J Hum Genet. 2014 Feb 6;94(2):312.

Imaging Patterns of Brain Development and their Relationship to Cognition.
Erus G, Battapady H, Satterthwaite TD, Hakonarson H, Gur RE, Davatzikos C, Gur RC.
Cereb Cortex. 2015 Jun;25(6):1676-84. doi: 10.1093/cercor/bht425. Epub 2014 Jan 12.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, et al.
Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.

DENND1B gene variants associate with elevated exhaled nitric oxide in healthy high-risk neonates.
Chawes BL, Bischoff AL, Kreiner-Møller E, Buchvald F, Hakonarson H, Bisgaard H.
Pediatr Pulmonol. 2015 Feb;50(2):109-17. doi: 10.1002/ppul.22958. Epub 2013 Dec 17.

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.
Yoneyama S, Guo Y, Lanktree MB, Barnes MR, Elbers CC, Karczewski KJ, Padmanabhan S, Bauer F, Baumert J, Beitelshees A, Berenson GS, Boer JM, Burke G, Cade B, Chen W, Cooper-Dehoff RM, Gaunt TR, Gieger C, Gong Y, Gorski M, Heard-Costa N, Johnson T, et al.
Hum Mol Genet. 2014 May 1;23(9):2498-510. doi: 10.1093/hmg/ddt626. Epub 2013 Dec 17.

Thymic stromal lymphopoietin-mediated extramedullary hematopoiesis promotes allergic inflammation.
Siracusa MC, Saenz SA, Wojno ED, Kim BS, Osborne LC, Ziegler CG, Benitez AJ, Ruymann KR, Farber DL, Sleiman PM, Hakonarson H, Cianferoni A, Wang ML, Spergel JM, Comeau MR, Artis D.
Immunity. 2013 Dec 12;39(6):1158-70. doi: 10.1016/j.immuni.2013.09.016.

Burden of copy number variation in common variable immunodeficiency.
Keller M, Glessner J, Resnick E, Perez E, Chapel H, Lucas M, Sullivan KE, Cunningham-Rundles C, Orange JS, Hakonarson H.
Clin Exp Immunol. 2014 Jul;177(1):269-71. doi: 10.1111/cei.12255.

Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
van der Valk RJ, Duijts L, Timpson NJ, Salam MT, Standl M, Curtin JA, Genuneit J, Kerhof M, Kreiner-Møller E, Cáceres A, Gref A, Liang LL, Taal HR, Bouzigon E, Demenais F, Nadif R, Ober C, Thompson EE, Estrada K, Hofman A, Uitterlinden AG, van Duijn C, et al.
J Allergy Clin Immunol. 2014 Jul;134(1):46-55. doi: 10.1016/j.jaci.2013.08.053. Epub 2013 Dec 6.

Sex differences in the structural connectome of the human brain.
Ingalhalikar M, Smith A, Parker D, Satterthwaite TD, Elliott MA, Ruparel K, Hakonarson H, Gur RE, Gur RC, Verma R.
Proc Natl Acad Sci U S A. 2014 Jan 14;111(2):823-8. doi: 10.1073/pnas.1316909110. Epub 2013 Dec 2.

GATA factors promote ER integrity and β-cell survival and contribute to type 1 diabetes risk.
Sartori DJ, Wilbur CJ, Long SY, Rankin MM, Li C, Bradfield JP, Hakonarson H, Grant SF, Pu WT, Kushner JA.
Mol Endocrinol. 2014 Jan;28(1):28-39. doi: 10.1210/me.2013-1265. Epub 2013 Jan 1.

Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation.
Li YR, Levine JE, Hakonarson H, Keating BJ.
Eur J Hum Genet. 2014 Jun;22(6):715-23. doi: 10.1038/ejhg.2013.247. Epub 2013 Nov 20. Review.

Alzheimer's disease: analyzing the missing heritability.
Ridge PG, Mukherjee S, Crane PK, Kauwe JS; Alzheimer’s Disease Genetics Consortium.
PLoS One. 2013;8(11):e79771. doi: 10.1371/journal.pone.0079771.

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, Mortensen LJ, Paternoster L, Flaaten R, Mølgaard A, Smart DE, Thomsen PF, Rasmussen MA, Bonàs-Guarch S, Holst C, Nohr EA, Yadav R, March ME, et al.
Nat Genet. 2014 Jan;46(1):51-5. doi: 10.1038/ng.2830. Epub 2013 Nov 17.

Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Erdmann J, Stark K, Esslinger UB, Rumpf PM, Koesling D, de Wit C, Kaiser FJ, Braunholz D, Medack A, Fischer M, Zimmermann ME, Tennstedt S, Graf E, Eck S, Aherrahrou Z, Nahrstaedt J, Willenborg C, Bruse P, Brænne I, Nöthen MM, Hofmann P, Braund PS, et al.
Nature. 2013 Dec 19;504(7480):432-6. doi: 10.1038/nature12722. Epub 2013 Nov 10.

Impact of exome sequencing in inflammatory bowel disease.
Cardinale CJ, Kelsen JR, Baldassano RN, Hakonarson H.
World J Gastroenterol. 2013 Oct 28;19(40):6721-9. doi: 10.3748/wjg.v19.i40.6721. Review.

Gene expression and genetic variation in human atria.
Lin H, Dolmatova EV, Morley MP, Lunetta KL, McManus DD, Magnani JW, Margulies KB, Hakonarson H, del Monte F, Benjamin EJ, Cappola TP, Ellinor PT.
Heart Rhythm. 2014 Feb;11(2):266-71. doi: 10.1016/j.hrthm.2013.10.051. Epub 2013 Oct 28.

Perindopril treatment promote left ventricle remodeling in patients with heart failure screened positive for autoantibodies against angiotensin II type 1 receptor.
Du Q, Wu J, Wang H, Wang X, Xu L, Zhang Z, Liu J, Zhang J, Chen J, Hakonarson H, Hu A, Zhang L.
BMC Cardiovasc Disord. 2013 Oct 31;13:94. doi: 10.1186/1471-2261-13-94.

GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
Sleiman P, Wang D, Glessner J, Hadley D, Gur RE, Cohen N, Li Q, Hakonarson H; Janssen-CHOP Neuropsychiatric Genomics Working Group.
Sci Rep. 2013 Oct 29;3:3075. doi: 10.1038/srep03075.

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, et al.
Nat Genet. 2013 Dec;45(12):1452-8. doi: 10.1038/ng.2802. Epub 2013 Oct 27.

TREM2 and neurodegenerative disease.
Reitz C, Mayeux R; Alzheimer’s Disease Genetics Consortium.
N Engl J Med. 2013 Oct 17;369(16):1564-5. doi: 10.1056/NEJMc1306509#SA1. No abstract available.

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.
Babushok DV, Xie HM, Roth JJ, Perdigones N, Olson TS, Cockroft JD, Gai X, Perin JC, Li Y, Paessler ME, Hakonarson H, Podsakoff GM, Mason PJ, Biegel JA, Bessler M.
Br J Haematol. 2014 Jan;164(1):73-82. doi: 10.1111/bjh.12603. Epub 2013 Oct 14.

Correction: Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population.
Best LG, Saxena R, Anderson CM, Barnes MR, Hakonarson H, Falcon G, Martin C, Castillo BA, Karumanchi A, Keplin K, Pearson N, Lamb F, Bercier S, Keating BJ.
PLoS One. 2013;8(9). doi: 10.1371/annotation/7f3e30b8-8dfa-4bb7-b34e-884248628454.

Functional maturation of the executive system during adolescence.
Satterthwaite TD, Wolf DH, Erus G, Ruparel K, Elliott MA, Gennatas ED, Hopson R, Jackson C, Prabhakaran K, Bilker WB, Calkins ME, Loughead J, Smith A, Roalf DR, Hakonarson H, Verma R, Davatzikos C, Gur RC, Gur RE.
J Neurosci. 2013 Oct 9;33(41):16249-61. doi: 10.1523/JNEUROSCI.2345-13.2013.

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia.
Tsai EA, Grochowski CM, Loomes KM, Bessho K, Hakonarson H, Bezerra JA, Russo PA, Haber BA, Spinner NB, Devoto M.
Hum Genet. 2014 Feb;133(2):235-43. doi: 10.1007/s00439-013-1368-2. Epub 2013 Oct 9.

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH.
PLoS Genet. 2013;9(10):e1003823. doi: 10.1371/journal.pgen.1003823. Epub 2013 Oct 3.

A common biological basis of obesity and nicotine addiction.
Thorgeirsson TE, Gudbjartsson DF, Sulem P, Besenbacher S, Styrkarsdottir U, Thorleifsson G, Walters GB; TAG Consortium; Oxford-GSK Consortium; ENGAGE consortium, Furberg H, Sullivan PF, Marchini J, McCarthy MI, Steinthorsdottir V, Thorsteinsdottir U, Stefansson K.
Transl Psychiatry. 2013 Oct 1;3:e308. doi: 10.1038/tp.2013.81.

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, et al.
Nat Genet. 2013 Nov;45(11):1353-60. doi: 10.1038/ng.2770. Epub 2013 Sep 29.

Practical challenges in integrating genomic data into the electronic health record.
Kho AN, Rasmussen LV, Connolly JJ, Peissig PL, Starren J, Hakonarson H, Hayes MG.
Genet Med. 2013 Oct;15(10):772-8. doi: 10.1038/gim.2013.131. Epub 2013 Sep 26. Review.

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
Beaudoin M, Goyette P, Boucher G, Lo KS, Rivas MA, Stevens C, Alikashani A, Ladouceur M, Ellinghaus D, Törkvist L, Goel G, Lagacé C, Annese V, Bitton A, Begun J, Brant SR, Bresso F, Cho JH, Duerr RH, Halfvarson J, McGovern DP, Radford-Smith G, et al.
PLoS Genet. 2013;9(9):e1003723. doi: 10.1371/journal.pgen.1003723. Epub 2013 Sep 12.

Genetic variance in nitric oxide synthase and endothelin genes among children with and without endothelial dysfunction.
Chatsuriyawong S, Gozal D, Kheirandish-Gozal L, Bhattacharjee R, Khalyfa AA, Wang Y, Hakonarson H, Keating B, Sukhumsirichart W, Khalyfa A.
J Transl Med. 2013 Sep 25;11:227. doi: 10.1186/1479-5876-11-227.

Common variation contributes to the genetic architecture of social communication traits.
St Pourcain B, Whitehouse AJ, Ang WQ, Warrington NM, Glessner JT, Wang K, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Hakonarson H, Pennell CE, Smith GD.
Mol Autism. 2013 Sep 18;4(1):34. doi: 10.1186/2040-2392-4-34.

Gene network analysis in a pediatric cohort identifies novel lung function genes.
Ong BA, Li J, McDonough JM, Wei Z, Kim C, Chiavacci R, Mentch F, Caboot JB, Spergel J, Allen JL, Sleiman PM, Hakonarson H.
PLoS One. 2013;8(9):e72899. doi: 10.1371/journal.pone.0072899.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, et al.
Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6.

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.
Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA.
J Invest Dermatol. 2014 Mar;134(3):658-65. doi: 10.1038/jid.2013.370. Epub 2013 Sep 5.

Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
Ho JE, Chen WY, Chen MH, Larson MG, McCabe EL, Cheng S, Ghorbani A, Coglianese E, Emilsson V, Johnson AD, Walter S, Franceschini N, O'Donnell CJ; CARDIoGRAM Consortium; CHARGE Inflammation Working Group, Dehghan A, Lu C, Levy D, Newton-Cheh C; CHARGE Heart Failure Working Group, Lin H, Felix JF, et al.
J Clin Invest. 2013 Oct;123(10):4208-18. doi: 10.1172/JCI67119. Epub 2013 Sep 3.

The PCDH1 gene and asthma in early childhood.
Mortensen LJ, Kreiner-Møller E, Hakonarson H, Bønnelykke K, Bisgaard H.
Eur Respir J. 2014 Mar;43(3):792-800. doi: 10.1183/09031936.00021613. Epub 2013 Aug 29.

100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.>Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
Sabater-Lleal M, Huang J, Chasman D, Naitza S, Dehghan A, Johnson AD, Teumer A, Reiner AP, Folkersen L, Basu S, Rudnicka AR, Trompet S, Mälarstig A, Baumert J, Bis JC, Guo X, Hottenga JJ, Shin SY, Lopez LM, Lahti J, Tanaka T, Yanek LR, et al.
Circulation. 2013 Sep 17;128(12):1310-24. doi: 10.1161/CIRCULATIONAHA.113.002251. Epub 2013 Aug 22.

Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease.
Cardinale CJ, Wei Z, Panossian S, Wang F, Kim CE, Mentch FD, Chiavacci RM, Kachelries KE, Pandey R, Grant SF, Baldassano RN, Hakonarson H.
Genes Immun. 2013 Oct;14(7):447-52. doi: 10.1038/gene.2013.43. Epub 2013 Aug 22.

Two variants of the C-reactive protein gene are associated with risk of pre-eclampsia in an American Indian population.
Best LG, Saxena R, Anderson CM, Barnes MR, Hakonarson H, Falcon G, Martin C, Castillo BA, Karumanchi A, Keplin K, Pearson N, Lamb F, Bercier S, Keating BJ.
PLoS One. 2013 Aug 5;8(8):e71231. doi: 10.1371/journal.pone.0071231. Print 2013. Erratum in: PLoS One. 2013;8(9). doi:10.1371/annotation/7f3e30b8-8dfa-4bb7-b34e-884248628454.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, et al.
Nat Genet. 2013 Sep;45(9):984-94. doi: 10.1038/ng.2711. Epub 2013 Aug 11.

Neuroimaging of the Philadelphia neurodevelopmental cohort.
Satterthwaite TD, Elliott MA, Ruparel K, Loughead J, Prabhakaran K, Calkins ME, Hopson R, Jackson C, Keefe J, Riley M, Mentch FD, Sleiman P, Verma R, Davatzikos C, Hakonarson H, Gur RC, Gur RE.
Neuroimage. 2014 Feb 1;86:544-53. doi: 10.1016/j.neuroimage.2013.07.064. Epub 2013 Aug 3. Review.

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SF, Gruber PJ, Hakonarson H, Spinner NB, Krantz ID.
Am J Med Genet A. 2013 Sep;161A(9):2134-47. doi: 10.1002/ajmg.a.36038. Epub 2013 Jul 29.

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.
Wang K, Kim C, Bradfield J, Guo Y, Toskala E, Otieno FG, Hou C, Thomas K, Cardinale C, Lyon GJ, Golhar R, Hakonarson H.
Genome Med. 2013;5(7):67. doi: 10.1186/gm471.

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.
Gallant E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID.
Am J Med Genet A. 2013 Sep;161A(9):2148-57. doi: 10.1002/ajmg.a.36042. Epub 2013 Jul 19.

Thymic stromal lymphopoietin-elicited basophil responses promote eosinophilic esophagitis.
Noti M, Wojno ED, Kim BS, Siracusa MC, Giacomin PR, Nair MG, Benitez AJ, Ruymann KR, Muir AB, Hill DA, Chikwava KR, Moghaddam AE, Sattentau QJ, Alex A, Zhou C, Yearley JH, Menard-Katcher P, Kubo M, Obata-Ninomiya K, Karasuyama H, Comeau MR, Brown-Whitehorn T, et al.
Nat Med. 2013 Aug;19(8):1005-13. doi: 10.1038/nm.3281. Epub 2013 Jul 21.

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, Sebat J, Malhotra D, Nestadt G, Conrad DF, Hurles M, Barnes CP, Ikeda M, Iwata N, Levinson DF, Gejman PV, Sanders AR, Duan J, Mitchell AA, Peter I, Sklar P, O'Dushlaine CT, et al.
Biol Psychiatry. 2014 Mar 1;75(5):371-7. doi: 10.1016/j.biopsych.2013.05.040. Epub 2013 Jul 17.

A missense mutation in ANKRD26 segregates with thrombocytopenia.
Al Daama SA, Housawi YH, Dridi W, Sager M, Otieno FG, Hou C, Vasquez L, Kim C, Tian L, Sleiman P, Hakonarson H.
Blood. 2013 Jul 18;122(3):461-2. doi: 10.1182/blood-2013-03-489344. No abstract available.

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.
Pinney SE, Ganapathy K, Bradfield J, Stokes D, Sasson A, Mackiewicz K, Boodhansingh K, Hughes N, Becker S, Givler S, Macmullen C, Monos D, Ganguly A, Hakonarson H, Stanley CA.
Horm Res Paediatr. 2013;80(1):18-27. doi: 10.1159/000351943. Epub 2013 Jul 13.

Incidental findings in youths volunteering for brain MRI research.
Gur RE, Kaltman D, Melhem ER, Ruparel K, Prabhakaran K, Riley M, Yodh E, Hakonarson H, Satterthwaite T, Gur RC.
AJNR Am J Neuroradiol. 2013 Oct;34(10):2021-5. doi: 10.3174/ajnr.A3525. Epub 2013 Jun 27.

Heterogeneous impact of motion on fundamental patterns of developmental changes in functional connectivity during youth.
Satterthwaite TD, Wolf DH, Ruparel K, Erus G, Elliott MA, Eickhoff SB, Gennatas ED, Jackson C, Prabhakaran K, Smith A, Hakonarson H, Verma R, Davatzikos C, Gur RE, Gur RC.
Neuroimage. 2013 Dec;83:45-57. doi: 10.1016/j.neuroimage.2013.06.045. Epub 2013 Jun 21.

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.
Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, Crosslin D, Denny JC, Gallego CJ, Haines JL, Hakonarson H, Harley J, Jarvik GP, et al.
Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6. Review.

Proteomics screen to reveal molecular changes mediated by C722G missense mutation in CHRM2 gene.
Hou D, Chen Y, Liu J, Xu L, Zhang Z, Zhang J, Wang H, Wang X, Chen J, Zhao R, Hu A, Hakonarson H, Zhang L, Shen Y.
J Proteomics. 2013 Aug 26;89:39-50. doi: 10.1016/j.jprot.2013.05.027. Epub 2013 Jun 4.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, et al.
Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23.

Large sample size, wide variant spectrum, and advanced machine-learning technique boost risk prediction for inflammatory bowel disease.
Wei Z, Wang W, Bradfield J, Li J, Cardinale C, Frackelton E, Kim C, Mentch F, Van Steen K, Visscher PM, Baldassano RN, Hakonarson H; International IBD Genetics Consortium.
Am J Hum Genet. 2013 Jun 6;92(6):1008-12. doi: 10.1016/j.ajhg.2013.05.002. Epub 2013 May 23.

Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls.
International Multiple Sclerosis Genetics Consortium.
Am J Hum Genet. 2013 Jun 6;92(6):854-65. doi: 10.1016/j.ajhg.2013.04.019. Epub 2013 May 23.

A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
Li WD, Jiao H, Wang K, Zhang CK, Glessner JT, Grant SF, Zhao H, Hakonarson H, Arlen Price R.
Obesity (Silver Spring). 2013 Sep;21(9):E490-4. doi: 10.1002/oby.20303. Epub 2013 May 24.

A candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis."
Mechelli R, Umeton R, Policano C, Annibali V, Coarelli G, Ricigliano VA, Vittori D, Fornasiero A, Buscarinu MC; International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium,2, Romano S, Salvetti M, Ristori G.
PLoS One. 2013 May 16;8(5):e63300. doi: 10.1371/journal.pone.0063300. Print 2013.

High rate of disease-related copy number variations in childhood onset schizophrenia.
Ahn K, Gotay N, Andersen TM, Anvari AA, Gochman P, Lee Y, Sanders S, Guha S, Darvasi A, Glessner JT, Hakonarson H, Lencz T, State MW, Shugart YY, Rapoport JL.
Mol Psychiatry. 2014 May;19(5):568-72. doi: 10.1038/mp.2013.59. Epub 2013 May 21.

The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.
D'Alessandro LC, Werner P, Xie HM, Hakonarson H, White PS, Goldmuntz E.
Congenit Heart Dis. 2014 Jan-Feb;9(1):83-6. doi: 10.1111/chd.12097. Epub 2013 May 20.

De novo mutations in histone-modifying genes in congenital heart disease.
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, et al.
Nature. 2013 Jun 13;498(7453):220-3. doi: 10.1038/nature12141. Epub 2013 May 12.

The shared allelic architecture of adiponectin levels and coronary artery disease.
Dastani Z, Johnson T, Kronenberg F, Nelson CP, Assimes TL, März W; CARDIoGRAM Consortium; ADIPOGen Consortium, Richards JB.
Atherosclerosis. 2013 Jul;229(1):145-8. doi: 10.1016/j.atherosclerosis.2013.03.034. Epub 2013 Apr 22.

Genetic polymorphisms and associated susceptibility to asthma.
March ME, Sleiman PM, Hakonarson H.
Int J Gen Med. 2013 Apr 17;6:253-65. doi: 10.2147/IJGM.S28156. Print 2013.

Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
Reiner AP, Hartiala J, Zeller T, Bis JC, Dupuis J, Fornage M, Baumert J, Kleber ME, Wild PS, Baldus S, Bielinski SJ, Fontes JD, Illig T, Keating BJ, Lange LA, Ojeda F, Müller-Nurasyid M, Munzel TF, Psaty BM, Rice K, Rotter JI, Schnabel RB, et al.
Hum Mol Genet. 2013 Aug 15;22(16):3381-93. doi: 10.1093/hmg/ddt189. Epub 2013 Apr 24.

Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.
Zhang W, Hui KY, Gusev A, Warner N, Ng SM, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick RJ, Cardinale CJ, Hakonarson H, Waterman M, Chowers Y, Karban A, Brant SR, Silverberg MS, Gregersen PK, Katz S, Lifton RP, Zhao H, et al.
Genes Immun. 2013 Jul-Aug;14(5):310-6. doi: 10.1038/gene.2013.19. Epub 2013 Apr 25.

High loading of polygenic risk for ADHD in children with comorbid aggression.
Hamshere ML, Langley K, Martin J, Agha SS, Stergiakouli E, Anney RJ, Buitelaar J, Faraone SV, Lesch KP, Neale BM, Franke B, Sonuga-Barke E, Asherson P, Merwood A, Kuntsi J, Medland SE, Ripke S, Steinhausen HC, Freitag C, Reif A, Renner TJ, Romanos M, et al.
Am J Psychiatry. 2013 Aug;170(8):909-16. doi: 10.1176/appi.ajp.2013.12081129.

Whole-genome sequencing in an autism multiplex family.
Shi L, Zhang X, Golhar R, Otieno FG, He M, Hou C, Kim C, Keating B, Lyon GJ, Wang K, Hakonarson H.
Mol Autism. 2013 Apr 18;4(1):8. doi: 10.1186/2040-2392-4-8.

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
Monda KL, Chen GK, Taylor KC, Palmer C, Edwards TL, Lange LA, Ng MC, Adeyemo AA, Allison MA, Bielak LF, Chen G, Graff M, Irvin MR, Rhie SK, Li G, Liu Y, Liu Y, Lu Y, Nalls MA, Sun YV, Wojczynski MK, Yanek LR, et al.
Nat Genet. 2013 Jun;45(6):690-6. doi: 10.1038/ng.2608. Epub 2013 Apr 14.

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
Reitz C, Jun G, Naj A, Rajbhandary R, Vardarajan BN, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, et al.
JAMA. 2013 Apr 10;309(14):1483-92. doi: 10.1001/jama.2013.2973.

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga M, Kawase Y, Akatsu H, Kosaka K, et al.
PLoS One. 2013;8(4):e58618. doi: 10.1371/journal.pone.0058618. Epub 2013 Apr 2. Erratum in: PLoS One. 2013;8(7). doi:10.1371/annotation/fcb56ea7-d32a-4e45-818d-39cef330c731. Moriaha, Takashi [corrected to Morihara, Takashi].

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.
O'Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ.
Genome Med. 2013;5(3):28. doi: 10.1186/gm432.

The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.
Deliard S, Panossian S, Mentch FD, Kim CE, Hou C, Frackelton EC, Bradfield JP, Glessner JT, Zhang H, Wang K, Sleiman PM, Chiavacci RM, Berkowitz RI, Hakonarson H, Zhao J, Grant SF.
Obesity (Silver Spring). 2013 Jan;21(1):159-63. doi: 10.1002/oby.20147.

Genetic predisposition to higher blood pressure increases coronary artery disease risk.
Lieb W, Jansen H, Loley C, Pencina MJ, Nelson CP, Newton-Cheh C, Kathiresan S, Reilly MP, Assimes TL, Boerwinkle E, Hall AS, Hengstenberg C, Laaksonen R, McPherson R, Thorsteinsdottir U, Ziegler A, Peters A, Thompson JR, König IR, Erdmann J, Samani NJ, Vasan RS, et al.
Hypertension. 2013 May;61(5):995-1001. doi: 10.1161/HYPERTENSIONAHA.111.00275. Epub 2013 Mar 11.

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
Cross-Disorder Group of the Psychiatric Genomics Consortium.
Lancet. 2013 Apr 20;381(9875):1371-9. doi: 10.1016/S0140-6736(12)62129-1. Epub 2013 Feb 28. Erratum in: Lancet. 2013 Apr 20;381(9875):1360.

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
Cousminer DL, Berry DJ, Timpson NJ, Ang W, Thiering E, Byrne EM, Taal HR, Huikari V, Bradfield JP, Kerkhof M, Groen-Blokhuis MM, Kreiner-Møller E, Marinelli M, Holst C, Leinonen JT, Perry JR, Surakka I, Pietiläinen O, Kettunen J, Anttila V, Kaakinen M, Sovio U, et al.
Hum Mol Genet. 2013 Jul 1;22(13):2735-47. doi: 10.1093/hmg/ddt104. Epub 2013 Feb 27.

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, Li J, Lu Y, Yanek LR, Keating B, Meng Y, van Rooij FJ, Okada Y, Kubo M, Rasmussen-Torvik L, Keller MF, Lange L, Evans M, Bottinger EP, Linderman MD, Ruderfer DM, Hakonarson H, et al.
Hum Mol Genet. 2013 Jun 15;22(12):2529-38. doi: 10.1093/hmg/ddt087. Epub 2013 Feb 26.

Ask the experts: pharmacogenomics and genome-wide association studies.
Hakonarson H.
Pharmacogenomics. 2013 Mar;14(4):365-8. doi: 10.2217/pgs.13.16. No abstract available.

APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
Ramanan VK, Risacher SL, Nho K, Kim S, Swaminathan S, Shen L, Foroud TM, Hakonarson H, Huentelman MJ, Aisen PS, Petersen RC, Green RC, Jack CR, Koeppe RA, Jagust WJ, Weiner MW, Saykin AJ; Alzheimer’s Disease Neuroimaging Initiative.
Mol Psychiatry. 2014 Mar;19(3):351-7. doi: 10.1038/mp.2013.19. Epub 2013 Feb 19.

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.
Pediatric Cardiac Genomics Consortium, Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Kaski JP, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, Sleeper L, Tennstedt S, Kaltman J, Schramm C, Burns K, Pearson G, Rosenberg E.
Circ Res. 2013 Feb 15;112(4):698-706. doi: 10.1161/CIRCRESAHA.111.300297.

Obesity-susceptibility loci and the tails of the pediatric BMI distribution.
Mitchell JA, Hakonarson H, Rebbeck TR, Grant SF.
Obesity (Silver Spring). 2013 Jun;21(6):1256-60. doi: 10.1002/oby.20319.

Copy number variations in alternative splicing gene networks impact lifespan.
Glessner JT, Smith AV, Panossian S, Kim CE, Takahashi N, Thomas KA, Wang F, Seidler K, Harris TB, Launer LJ, Keating B, Connolly J, Sleiman PM, Buxbaum JD, Grant SF, Gudnason V, Hakonarson H.
PLoS One. 2013;8(1):e53846. doi: 10.1371/journal.pone.0053846. Epub 2013 Jan 30.

Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.
Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D, Devoto M, Krantz ID.
Am J Otolaryngol. 2013 May-Jun;34(3):230-5. doi: 10.1016/j.amjoto.2012.11.002. Epub 2013 Jan 29.

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.
Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD; Alzheimer's Disease Genetics Consortium, Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, et al.
Ann Hum Genet. 2013 Mar;77(2):85-105. doi: 10.1111/ahg.12000. Epub 2013 Jan 30.

Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.
Matsunami N, Hadley D, Hensel CH, Christensen GB, Kim C, Frackelton E, Thomas K, da Silva RP, Stevens J, Baird L, Otterud B, Ho K, Varvil T, Leppert T, Lambert CG, Leppert M, Hakonarson H.
PLoS One. 2013;8(1):e52239. doi: 10.1371/journal.pone.0052239. Epub 2013 Jan 14.

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.
Cui S, Leyva-Vega M, Tsai EA, EauClaire SF, Glessner JT, Hakonarson H, Devoto M, Haber BA, Spinner NB, Matthews RP.
Gastroenterology. 2013 May;144(5):1107-1115.e3. doi: 10.1053/j.gastro.2013.01.022. Epub 2013 Jan 18.

Loci influencing blood pressure identified using a cardiovascular gene-centric array.
Ganesh SK, Tragante V, Guo W, Guo Y, Lanktree MB, Smith EN, Johnson T, Castillo BA, Barnard J, Baumert J, Chang YP, Elbers CC, Farrall M, Fischer ME, Franceschini N, Gaunt TR, Gho JM, Gieger C, Gong Y, Isaacs A, Kleber ME, Mateo Leach I, et al.
Hum Mol Genet. 2013 Apr 15;22(8):1663-78. doi: 10.1093/hmg/dds555. Epub 2013 Jan 8. Erratum in: Hum Mol Genet. 2013 Aug 15;22(16):3394-5. Van Setten, Jessic A [corrected to Van Setten, Jessica].

ParseCNV integrative copy number variation association software with quality tracking.
Glessner JT, Li J, Hakonarson H.
Nucleic Acids Res. 2013 Mar 1;41(5):e64. doi: 10.1093/nar/gks1346. Epub 2013 Jan 4.

Genes involved in type 1 diabetes: an update.
Bakay M, Pandey R, Hakonarson H.
Genes (Basel). 2013 Sep 16;4(3):499-521. doi: 10.3390/genes4030499.

Mucosal plasma cell barrier disruption during intestine transplant rejection.
Ningappa M, Ashokkumar C, Ranganathan S, Schmitt L, Higgs BW, Sun Q, Branca M, Mazariegos G, Zeevi A, Abu-Elmagd K, Squires R, Rudolph J, Alissa F, Hakonarson H, Sindhi R.
Transplantation. 2012 Dec 27;94(12):1236-42. doi: 10.1097/TP.0b013e3182708d9d.

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
Li J, Glessner JT, Zhang H, Hou C, Wei Z, Bradfield JP, Mentch FD, Guo Y, Kim C, Xia Q, Chiavacci RM, Thomas KA, Qiu H, Grant SF, Furth SL, Hakonarson H, Sleiman PM.
Hum Mol Genet. 2013 Apr 1;22(7):1457-64. doi: 10.1093/hmg/dds534. Epub 2012 Dec 20.

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.
Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW; Autism Sequencing Consortium.
Neuron. 2012 Dec 20;76(6):1052-6. doi: 10.1016/j.neuron.2012.12.008.

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
Elbers CC, Guo Y, Tragante V, van Iperen EP, Lanktree MB, Castillo BA, Chen F, Yanek LR, Wojczynski MK, Li YR, Ferwerda B, Ballantyne CM, Buxbaum SG, Chen YD, Chen WM, Cupples LA, Cushman M, Duan Y, Duggan D, Evans MK, Fernandes JK, Fornage M, et al.
PLoS One. 2012;7(12):e50198. doi: 10.1371/journal.pone.0050198. Epub 2012 Dec 7.

Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility.
Capasso M, Diskin SJ, Totaro F, Longo L, De Mariano M, Russo R, Cimmino F, Hakonarson H, Tonini GP, Devoto M, Maris JM, Iolascon A.
Carcinogenesis. 2013 Mar;34(3):605-11. doi: 10.1093/carcin/bgs380. Epub 2012 Dec 7. Erratum in: Carcinogenesis. 2014 Mar;35(3):737.

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, Kaakinen M, Cousminer DL, Lehtimäki T, Kreiner-Møller E, Warrington NM, Bustamante M, Feenstra B, Berry DJ, Thiering E, Pfab T, Barton SJ, Shields BM, et al.
Nat Genet. 2013 Jan;45(1):76-82. doi: 10.1038/ng.2477. Epub 2012 Dec 2.

HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.
Lasky-Su J, Himes BE, Raby BA, Klanderman BJ, Sylvia JS, Lange C, Melen E, Martinez FD, Israel E, Gauderman J, Gilliland F, Sleiman P, Hakonarson H, Celedón JC, Soto-Quiros M, Avila L, Lima JJ, Irvin CG, Peters SP, Boushey H, Chinchilli VM, Mauger D, et al.
Clin Exp Allergy. 2012 Dec;42(12):1724-33. doi: 10.1111/cea.12000.

Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study.
Yang TL, Guo Y, Shen H, Li J, Glessner JT, Qiu C, Deng FY, Tian Q, Yu P, Liu YZ, Liu YJ, Hakonarson H, Grant SF, Deng HW.
J Clin Endocrinol Metab. 2013 Jan;98(1):E191-5. doi: 10.1210/jc.2012-2751. Epub 2012 Nov 21.

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID.
Am J Med Genet A. 2012 Dec;158A(12):3046-53. doi: 10.1002/ajmg.a.35726. Epub 2012 Nov 20.

Copy-number disorders are a common cause of congenital kidney malformations.
Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, et al.
Am J Hum Genet. 2012 Dec 7;91(6):987-97. doi: 10.1016/j.ajhg.2012.10.007. Epub 2012 Nov 15.

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
Whitcomb DC, LaRusch J, Krasinskas AM, Klei L, Smith JP, Brand RE, Neoptolemos JP, Lerch MM, Tector M, Sandhu BS, Guda NM, Orlichenko L; Alzheimer's Disease Genetics Consortium, Alkaade S, Amann ST, Anderson MA, Baillie J, Banks PA, Conwell D, Coté GA, Cotton PB, DiSario J, et al.
Nat Genet. 2012 Dec;44(12):1349-54. doi: 10.1038/ng.2466. Epub 2012 Nov 11.

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, et al.
Nature. 2012 Nov 1;491(7422):119-24. doi: 10.1038/nature11582.

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
Asselbergs FW, Guo Y, van Iperen EP, Sivapalaratnam S, Tragante V, Lanktree MB, Lange LA, Almoguera B, Appelman YE, Barnard J, Baumert J, Beitelshees AL, Bhangale TR, Chen YD, Gaunt TR, Gong Y, Hopewell JC, Johnson T, Kleber ME, Langaee TY, Li M, Li YR, et al.
Am J Hum Genet. 2012 Nov 2;91(5):823-38. doi: 10.1016/j.ajhg.2012.08.032. Epub 2012 Oct 11.

Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy.
Kim DS, Stanaway IB, Rajagopalan R, Bernbaum JC, Solot CB, Burnham N, Zackai EH, Clancy RR, Nicolson SC, Gerdes M, Nickerson DA, Hakonarson H, Gaynor JW, Jarvik GP.
PLoS One. 2012;7(9):e45936. doi: 10.1371/journal.pone.0045936. Epub 2012 Sep 25.

Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.
Guo Y, Lanktree MB, Taylor KC, Hakonarson H, Lange LA, Keating BJ; IBC 50K SNP array BMI Consortium.
Hum Mol Genet. 2013 Jan 1;22(1):184-201. doi: 10.1093/hmg/dds396. Epub 2012 Sep 21.

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
Diskin SJ, Capasso M, Schnepp RW, Cole KA, Attiyeh EF, Hou C, Diamond M, Carpenter EL, Winter C, Lee H, Jagannathan J, Latorre V, Iolascon A, Hakonarson H, Devoto M, Maris JM.
Nat Genet. 2012 Oct;44(10):1126-30. doi: 10.1038/ng.2387. Epub 2012 Sep 2.

A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.
Connolly JJ, Glessner JT, Hakonarson H.
Child Dev. 2013 Jan-Feb;84(1):17-33. doi: 10.1111/j.1467-8624.2012.01838.x. Epub 2012 Aug 30.

An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data.
Satterthwaite TD, Elliott MA, Gerraty RT, Ruparel K, Loughead J, Calkins ME, Eickhoff SB, Hakonarson H, Gur RC, Gur RE, Wolf DH.
Neuroimage. 2013 Jan 1;64:240-56. doi: 10.1016/j.neuroimage.2012.08.052. Epub 2012 Aug 25.

Genome-wide association study of multiplex schizophrenia pedigrees.
Levinson DF, Shi J, Wang K, Oh S, Riley B, Pulver AE, Wildenauer DB, Laurent C, Mowry BJ, Gejman PV, Owen MJ, Kendler KS, Nestadt G, Schwab SG, Mallet J, Nertney D, Sanders AR, Williams NM, Wormley B, Lasseter VK, Albus M, Godard-Bauché S, et al.
Am J Psychiatry. 2012 Sep;169(9):963-73.

Phasing of many thousands of genotyped samples.
Williams AL, Patterson N, Glessner J, Hakonarson H, Reich D.
Am J Hum Genet. 2012 Aug 10;91(2):238-51. doi: 10.1016/j.ajhg.2012.06.013.

Comprehensive search for Alzheimer disease susceptibility loci in the APOE region.
Jun G, Vardarajan BN, Buros J, Yu CE, Hawk MV, Dombroski BA, Crane PK, Larson EB; Alzheimer's Disease Genetics Consortium, Mayeux R, Haines JL, Lunetta KL, Pericak-Vance MA, Schellenberg GD, Farrer LA.
Arch Neurol. 2012 Oct;69(10):1270-9.

Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, et al.
Hum Mol Genet. 2012 Nov 1;21(21):4781-92. doi: 10.1093/hmg/dds301. Epub 2012 Jul 26.

Case-control association analysis of polymorphisms in the δ-opioid receptor, OPRD1, with cocaine and opioid addicted populations.
Crist RC, Ambrose-Lanci LM, Vaswani M, Clarke TK, Zeng A, Yuan C, Ferraro TN, Hakonarson H, Kampman KM, Dackis CA, Pettinati HM, O'Brien CP, Oslin DW, Doyle GA, Lohoff FW, Berrettini WH.
Drug Alcohol Depend. 2013 Jan 1;127(1-3):122-8. doi: 10.1016/j.drugalcdep.2012.06.023. Epub 2012 Jul 12.

Strategies for Studying the Epilepsy Genome.
Ferraro TN, Dlugos DJ, Hakonarson H, Buono RJ.
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Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
Lu X, Wang L, Chen S, He L, Yang X, Shi Y, Cheng J, Zhang L, Gu CC, Huang J, Wu T, Ma Y, Li J, Cao J, Chen J, Ge D, Fan Z, Li Y, Zhao L, Li H, Zhou X, Chen L, et al.
Nat Genet. 2012 Jul 1;44(8):890-4. doi: 10.1038/ng.2337.

Novel late-onset Alzheimer disease loci variants associate with brain gene expression.
Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, Lincoln S, Bisceglio G, Georgescu C, Schultz D, Rakhshan F, Kolbert CP, Jen J, et al.
Neurology. 2012 Jul 17;79(3):221-8. doi: 10.1212/WNL.0b013e3182605801. Epub 2012 Jun 20.

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
Zou F, Chai HS, Younkin CS, Allen M, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, Lincoln S, Bisceglio G, Georgescu C, Kouri N, Kolbert CP, Jen J, Haines JL, et al.
PLoS Genet. 2012;8(6):e1002707. doi: 10.1371/journal.pgen.1002707. Epub 2012 Jun 7.

Two-stage extreme phenotype sequencing design for discovering and testing common and rare genetic variants: efficiency and power.
Kang G, Lin D, Hakonarson H, Chen J.
Hum Hered. 2012;73(3):139-47. doi: 10.1159/000337300. Epub 2012 Jun 7.

Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.
Connolly JJ, Hakonarson H.
J Biomed Biotechnol. 2012;2012:798924. doi: 10.1155/2012/798924. Epub 2012 May 10. Review.

RAD21 mutations cause a human cohesinopathy.
Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, et al.
Am J Hum Genet. 2012 Jun 8;90(6):1014-27. doi: 10.1016/j.ajhg.2012.04.019. Epub 2012 May 24.

The impact of genomics on pediatric research and medicine.
Connolly JJ, Hakonarson H.
Pediatrics. 2012 Jun;129(6):1150-60. doi: 10.1542/peds.2011-3636. Epub 2012 May 7. Review.

Common variants at 12q15 and 12q24 are associated with infant head circumference.
Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, Ikram MA, Beilin LJ, Bønnelykke K, Buxton JL, Charoen P, Chawes BL, Eriksson J, et al.
Nat Genet. 2012 Apr 15;44(5):532-8. doi: 10.1038/ng.2238. Erratum in: Nat Genet. 2013 June;45(6):713. Sørensen, Thorkild I A [removed].

Common variants at 6q22 and 17q21 are associated with intracranial volume.
Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Taal HR, Mook-Kanamori DO, Coker LH, Longstreth WT Jr, Niessen WJ, DeStefano AL, Beiser A, Zijdenbos AP, Struchalin M, Jack CR Jr, Rivadeneira F, Uitterlinden AG, Knopman DS, et al.
Nat Genet. 2012 Apr 15;44(5):539-44. doi: 10.1038/ng.2245. Erratum in: Nat Genet. 2012 Jun;44(6):732. Nat Genet. 2013 Jun;45(6):713. Sørensen, Thorkild I A [removed].

A genome-wide association meta-analysis identifies new childhood obesity loci.
Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, Salem RM, Schumacher FR, Cousminer DL, Sleiman PM, Zhao J, Berkowitz RI, Vimaleswaran KS, Jarick I, Pennell CE, Evans DM, St Pourcain B, Berry DJ, et al.
Nat Genet. 2012 May;44(5):526-31. doi: 10.1038/ng.2247.

Being right is its own reward: load and performance related ventral striatum activation to correct responses during a working memory task in youth.
Satterthwaite TD, Ruparel K, Loughead J, Elliott MA, Gerraty RT, Calkins ME, Hakonarson H, Gur RC, Gur RE, Wolf DH.
Neuroimage. 2012 Jul 2;61(3):723-9. doi: 10.1016/j.neuroimage.2012.03.060. Epub 2012 Mar 29.

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.
Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KL, Clay-Falcone D, Elman L, McCluskey L, Greene R, Hakonarson H, Kalb RG, Lee VM, Trojanowski JQ, et al.
Hum Mol Genet. 2012 Jul 1;21(13):2899-911. doi: 10.1093/hmg/dds116. Epub 2012 Mar 27.

Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors.
Dougherty MJ, Tooke LS, Sullivan LM, Hakonarson H, Wainwright LM, Biegel JA.
Cancer Genet. 2012 Jan-Feb;205(1-2):42-54. doi: 10.1016/j.cancergen.2012.01.014.

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium.
Lancet. 2012 Mar 31;379(9822):1214-24. doi: 10.1016/S0140-6736(12)60110-X. Epub 2012 Mar 14.

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.
Williams NM, Franke B, Mick E, Anney RJ, Freitag CM, Gill M, Thapar A, O'Donovan MC, Owen MJ, Holmans P, Kent L, Middleton F, Zhang-James Y, Liu L, Meyer J, Nguyen TT, Romanos J, Romanos M, Seitz C, Renner TJ, Walitza S, Warnke A, et al.
Am J Psychiatry. 2012 Feb;169(2):195-204.

Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD.
Stergiakouli E, Hamshere M, Holmans P, Langley K, Zaharieva I; deCODE Genetics; Psychiatric GWAS Consortium, Hawi Z, Kent L, Gill M, Williams N, Owen MJ, O'Donovan M, Thapar A.
Am J Psychiatry. 2012 Feb;169(2):186-94.

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, et al.
PLoS Genet. 2012;8(3):e1002559. doi: 10.1371/journal.pgen.1002559. Epub 2012 Mar 8.

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP, Liebisch G, Wilson JF, Johansson Ã…, Rudan I, Aulchenko YS, Kirichenko AV, Janssens AC, Jansen RC, Gnewuch C, Domingues FS, Pattaro C, Wild SH, Jonasson I, Polasek O, Zorkoltseva IV, Hofman A, Karssen LC, et al.
PLoS Genet. 2012;8(2):e1002490. doi: 10.1371/journal.pgen.1002490. Epub 2012 Feb 16.

Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity.
Bosse KR, Diskin SJ, Cole KA, Wood AC, Schnepp RW, Norris G, Nguyen le B, Jagannathan J, Laquaglia M, Winter C, Diamond M, Hou C, Attiyeh EF, Mosse YP, Pineros V, Dizin E, Zhang Y, Asgharzadeh S, Seeger RC, Capasso M, Pawel BR, Devoto M, et al.
Cancer Res. 2012 Apr 15;72(8):2068-78. doi: 10.1158/0008-5472.CAN-11-3703. Epub 2012 Feb 20.

Translational studies of lipoprotein-associated phospholipase Aâ‚‚ in inflammation and atherosclerosis.
Ferguson JF, Hinkle CC, Mehta NN, Bagheri R, Derohannessian SL, Shah R, Mucksavage MI, Bradfield JP, Hakonarson H, Wang X, Master SR, Rader DJ, Li M, Reilly MP.
J Am Coll Cardiol. 2012 Feb 21;59(8):764-72. doi: 10.1016/j.jacc.2011.11.019.

Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans.
Latorre V, Diskin SJ, Diamond MA, Zhang H, Hakonarson H, Maris JM, Devoto M.
Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):658-63. doi: 10.1158/1055-9965.EPI-11-0830. Epub 2012 Feb 10.

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
Saxena R, Elbers CC, Guo Y, Peter I, Gaunt TR, Mega JL, Lanktree MB, Tare A, Castillo BA, Li YR, Johnson T, Bruinenberg M, Gilbert-Diamond D, Rajagopalan R, Voight BF, Balasubramanyam A, Barnard J, Bauer F, Baumert J, Bhangale T, Böhm BO, Braund PS, et al.
Am J Hum Genet. 2012 Mar 9;90(3):410-25. doi: 10.1016/j.ajhg.2011.12.022. Epub 2012 Feb 9. Erratum in: Am J Hum Genet. 2012 Apr 6;90(4):753. Sever, Peter [added]; Poulter, Neil [added] Bhatt, Deepak [corrected to Bhatt, Deepak L]; Asselbergs, Folkert [corrected to Asselbergs, Folkert W].

Association of type 2 diabetes susceptibility loci with one-year weight loss in the look AHEAD clinical trial.
Peter I, McCaffery JM, Kelley-Hedgepeth A, Hakonarson H, Reis S, Wagenknecht LE, Kopin AS, Huggins GS; Genetics Subgroup of the Look AHEAD Study.
Obesity (Silver Spring). 2012 Aug;20(8):1675-82. doi: 10.1038/oby.2012.11. Epub 2012 Feb 6.

Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.
Wang K, Edmondson AC, Li M, Gao F, Qasim AN, Devaney JM, Burnett MS, Waterworth DM, Mooser V, Grant SF, Epstein SE, Reilly MP, Hakonarson H, Rader DJ.
Front Genet. 2011;2:41. doi: 10.3389/fgene.2011.00041.

Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma.
Christie JD, Wurfel MM, Feng R, O'Keefe GE, Bradfield J, Ware LB, Christiani DC, Calfee CS, Cohen MJ, Matthay M, Meyer NJ, Kim C, Li M, Akey J, Barnes KC, Sevransky J, Lanken PN, May AK, Aplenc R, Maloney JP, Hakonarson H; Trauma ALI SNP Consortium (TASC) investigators.
PLoS One. 2012;7(1):e28268. doi: 10.1371/journal.pone.0028268. Epub 2012 Jan 25.

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21.
Gur RC, Richard J, Calkins ME, Chiavacci R, Hansen JA, Bilker WB, Loughead J, Connolly JJ, Qiu H, Mentch FD, Abou-Sleiman PM, Hakonarson H, Gur RE.
Neuropsychology. 2012 Mar;26(2):251-65. doi: 10.1037/a0026712. Epub 2012 Jan 16.

Rare genomic deletions and duplications and their role in neurodevelopmental disorders.
Glessner JT, Connolly JJ, Hakonarson H.
Curr Top Behav Neurosci. 2012;12:345-60. doi: 10.1007/7854_2011_179. Review.

Impact of in-scanner head motion on multiple measures of functional connectivity: relevance for studies of neurodevelopment in youth.
Satterthwaite TD, Wolf DH, Loughead J, Ruparel K, Elliott MA, Hakonarson H, Gur RC, Gur RE.
Neuroimage. 2012 Mar;60(1):623-32. doi: 10.1016/j.neuroimage.2011.12.063. Epub 2012 Jan 2.

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.
Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC, Bhaw-Rosun L, Bockett NA, Brand OJ, Brouwer E, Concannon P, Cooper JD, Dias KR, van Diemen CC, Dubois PC, Edkins S, Fölster-Holst R, Fransen K, Glass DN, Heap GA, et al.
Nat Genet. 2011 Dec 27;44(1):3-5. doi: 10.1038/ng.1037. No abstract available.

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
Paternoster L, Standl M, Chen CM, Ramasamy A, Bønnelykke K, Duijts L, Ferreira MA, Alves AC, Thyssen JP, Albrecht E, Baurecht H, Feenstra B, Sleiman PM, Hysi P, Warrington NM, Curjuric I, Myhre R, Curtin JA, Groen-Blokhuis MM, Kerkhof M, Sääf A, Franke A, et al.
Nat Genet. 2011 Dec 25;44(2):187-92. doi: 10.1038/ng.1017.

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, et al.
Biol Psychiatry. 2012 Mar 1;71(5):392-402. doi: 10.1016/j.biopsych.2011.09.034. Epub 2011 Dec 14.

RANTES/CCL5 and risk for coronary events: results from the MONICA/KORA Augsburg case-cohort, Athero-Express and CARDIoGRAM studies.
Herder C, Peeters W, Illig T, Baumert J, de Kleijn DP, Moll FL, Poschen U, Klopp N, Müller-Nurasyid M, Roden M, Preuss M; CARDIoGRAM Consortium, Karakas M, Meisinger C, Thorand B, Pasterkamp G, Koenig W, Assimes TL, Deloukas P, Erdmann J, Holm H, Kathiresan S, et al.
PLoS One. 2011;6(12):e25734. doi: 10.1371/journal.pone.0025734. Epub 2011 Dec 6.

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID.
Am J Med Genet A. 2012 Feb;158A(2):298-308. doi: 10.1002/ajmg.a.34391. Epub 2011 Dec 6.

Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
O'Donnell CJ, Kavousi M, Smith AV, Kardia SL, Feitosa MF, Hwang SJ, Sun YV, Province MA, Aspelund T, Dehghan A, Hoffmann U, Bielak LF, Zhang Q, Eiriksdottir G, van Duijn CM, Fox CS, de Andrade M, Kraja AT, Sigurdsson S, Elias-Smale SE, Murabito JM, Launer LJ, et al.
Circulation. 2011 Dec 20;124(25):2855-64. doi: 10.1161/CIRCULATIONAHA.110.974899. Epub 2011 Dec 5.

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.
Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA, Garris M, et al.
Nat Genet. 2011 Dec 4;44(1):78-84. doi: 10.1038/ng.1013.

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
Chung RH, Ma D, Wang K, Hedges DJ, Jaworski JM, Gilbert JR, Cuccaro ML, Wright HH, Abramson RK, Konidari I, Whitehead PL, Schellenberg GD, Hakonarson H, Haines JL, Pericak-Vance MA, Martin ER.
Mol Autism. 2011 Nov 4;2(1):18. doi: 10.1186/2040-2392-2-18.

Genetic underpinnings of obstructive sleep apnea: are we making progress?
Sleiman P, Hakonarson H.
Sleep. 2011 Nov 1;34(11):1449-52. doi: 10.5665/sleep.1366. No abstract available.

Genome-wide association study in German patients with attention deficit/hyperactivity disorder.
Hinney A, Scherag A, Jarick I, Albayrak Ö, Pütter C, Pechlivanis S, Dauvermann MR, Beck S, Weber H, Scherag S, Nguyen TT, Volckmar AL, Knoll N, Faraone SV, Neale BM, Franke B, Cichon S, Hoffmann P, Nöthen MM, Schreiber S, Jöckel KH, Wichmann HE, et al.
Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(8):888-97. doi: 10.1002/ajmg.b.31246. Epub 2011 Oct 19.

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.
Xie HM, Perin JC, Schurr TG, Dulik MC, Zhadanov SI, Baur JA, King MP, Place E, Clarke C, Grauer M, Schug J, Santani A, Albano A, Kim C, Procaccio V, Hakonarson H, Gai X, Falk MJ.
BMC Bioinformatics. 2011 Oct 19;12:402. doi: 10.1186/1471-2105-12-402.

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH.
Congenit Heart Dis. 2011 Nov-Dec;6(6):592-602. doi: 10.1111/j.1747-0803.2011.00582.x. Epub 2011 Oct 20.

Lack of relationship between mitochondrial heteroplasmy or variation and childhood obesity.
Grant SF, Glessner JT, Bradfield JP, Zhao J, Tirone JE, Berkowitz RI, Hakonarson H, Sondheimer N.
Int J Obes (Lond). 2012 Jan;36(1):80-3. doi: 10.1038/ijo.2011.206. Epub 2011 Oct 18.

Mosaic trisomy 17: variable clinical and cytogenetic presentation.
Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB.
Am J Med Genet A. 2011 Oct;155A(10):2489-95.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, et al.
Hum Genet. 2012 Apr;131(4):565-79. doi: 10.1007/s00439-011-1094-6. Epub 2011 Oct 14.

Post-genomic update on a classical candidate gene for coronary artery disease: ESR1.
Lucas G, Lluís-Ganella C, Subirana I, Sentí M, Willenborg C, Musameh MD, Schwartz SM, O'Donnell CJ, Melander O, Salomaa V, Elosua R; CARDIoGRAM Consortium.
Circ Cardiovasc Genet. 2011 Dec;4(6):647-54. doi: 10.1161/CIRCGENETICS.111.960583. Epub 2011 Oct 9.

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas MA, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang CK, Boucher G, Ripke S, Ellinghaus D, Burtt N, Fennell T, Kirby A, Latiano A, Goyette P, Green T, Halfvarson J, Haritunians T, Korn JM, Kuruvilla F, Lagacé C, Neale B, Lo KS, et al.
Nat Genet. 2011 Oct 9;43(11):1066-73. doi: 10.1038/ng.952.

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
Bradfield JP, Qu HQ, Wang K, Zhang H, Sleiman PM, Kim CE, Mentch FD, Qiu H, Glessner JT, Thomas KA, Frackelton EC, Chiavacci RM, Imielinski M, Monos DS, Pandey R, Bakay M, Grant SF, Polychronakos C, Hakonarson H.
PLoS Genet. 2011 Sep;7(9):e1002293. doi: 10.1371/journal.pgen.1002293. Epub 2011 Sep 29.

Large-scale gene-centric analysis identifies novel variants for coronary artery disease.
IBC 50K CAD Consortium.
PLoS Genet. 2011 Sep;7(9):e1002260. doi: 10.1371/journal.pgen.1002260. Epub 2011 Sep 22. Erratum in: PLoS Genet. 2-12 Aug;8(8). doi: 10.1371/annotation/120649cf-8c28-43c9-a688-c7cd65eb1aec. Roosendaal, Frits R [corrected to Rosendaal, Frits R].

Prospective study of insulin-like growth factor-I, insulin-like growth factor-binding protein 3, genetic variants in the IGF1 and IGFBP3 genes and risk of coronary artery disease.
Ricketts SL, Rensing KL, Holly JM, Chen L, Young EH, Luben R, Ashford S, Song K, Yuan X, Dehghan A, Wright BJ, Waterworth DM, Mooser V; GEMS Investigators, Waeber G, Vollenweider P, Epstein SE, Burnett MS, Devaney JM, Hakonarson HH, Rader DJ, Reilly MP, et al.
Int J Mol Epidemiol Genet. 2011 Aug 30;2(3):261-85. Epub 2011 Aug 3.

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
International Consortium for Blood Pressure Genome-Wide Association Studies, Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, Bragg-Gresham JL, Teumer A, Glazer NL, Launer L, Zhao JH, Aulchenko Y, Heath S, et al.
Nature. 2011 Sep 11;478(7367):103-9. doi: 10.1038/nature10405.

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson MG, Mooser V, Hadley D, Dörr M, Bis JC, Aspelund T, Esko T, Janssens AC, Zhao JH, Heath S, et al.
Nat Genet. 2011 Sep 11;43(10):1005-11. doi: 10.1038/ng.922.

Human metabolic individuality in biomedical and pharmaceutical research.
Suhre K, Shin SY, Petersen AK, Mohney RP, Meredith D, Wägele B, Altmaier E; CARDIoGRAM, Deloukas P, Erdmann J, Grundberg E, Hammond CJ, de Angelis MH, Kastenmüller G, Köttgen A, Kronenberg F, Mangino M, Meisinger C, Meitinger T, Mewes HW, Milburn MV, Prehn C, et al.
Nature. 2011 Aug 31;477(7362):54-60. doi: 10.1038/nature10354.

Increased expression of peripheral blood leukocyte genes implicate CD14+ tissue macrophages in cellular intestine allograft rejection.
Ashokkumar C, Ningappa M, Ranganathan S, Higgs BW, Sun Q, Schmitt L, Snyder S, Dobberstein J, Branca M, Jaffe R, Zeevi A, Squires R, Alissa F, Shneider B, Soltys K, Bond G, Abu-Elmagd K, Humar A, Mazariegos G, Hakonarson H, Sindhi R.
Am J Pathol. 2011 Oct;179(4):1929-38. doi: 10.1016/j.ajpath.2011.06.040. Epub 2011 Aug 18.

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, et al.
Nature. 2011 Aug 10;476(7359):214-9. doi: 10.1038/nature10251.

Crohn's disease and genetic hitchhiking at IBD5.
Huff CD, Witherspoon DJ, Zhang Y, Gatenbee C, Denson LA, Kugathasan S, Hakonarson H, Whiting A, Davis CT, Wu W, Xing J, Watkins WS, Bamshad MJ, Bradfield JP, Bulayeva K, Simonson TS, Jorde LB, Guthery SL.
Mol Biol Evol. 2012 Jan;29(1):101-11. doi: 10.1093/molbev/msr151. Epub 2011 Aug 4.

SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data.
Wei Z, Wang W, Hu P, Lyon GJ, Hakonarson H.
Nucleic Acids Res. 2011 Oct;39(19):e132. doi: 10.1093/nar/gkr599. Epub 2011 Aug 3.

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
Lyon GJ, Jiang T, Van Wijk R, Wang W, Bodily PM, Xing J, Tian L, Robison RJ, Clement M, Lin Y, Zhang P, Liu Y, Moore B, Glessner JT, Elia J, Reimherr F, van Solinge WW, Yandell M, Hakonarson H, Wang J, Johnson WE, Wei Z, et al.
Discov Med. 2011 Jul;12(62):41-55.

Convergent mechanisms of somatic mutations in polycythemia vera.
Wang K, Swierczek S, Hickman K, Hakonarson H, Prchal JT.
Discov Med. 2011 Jul;12(62):25-32.

Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans.
Zhao J, Bradfield JP, Zhang H, Sleiman PM, Kim CE, Glessner JT, Deliard S, Thomas KA, Frackelton EC, Li M, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF.
Obesity (Silver Spring). 2011 Dec;19(12):2436-9. doi: 10.1038/oby.2011.237. Epub 2011 Jul 21.

The landscape of recombination in African Americans.
Hinch AG, Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, Chen GK, Wang K, Buxbaum SG, Akylbekova EL, Aldrich MC, Ambrosone CB, Amos C, Bandera EV, Berndt SI, Bernstein L, Blot WJ, Bock CH, Boerwinkle E, Cai Q, Caporaso N, Casey G, et al.
Nature. 2011 Jul 20;476(7359):170-5. doi: 10.1038/nature10336.

Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma.
Devoto M, Specchia C, Laudenslager M, Longo L, Hakonarson H, Maris J, Mossé Y.
Hum Hered. 2011;71(2):135-9. doi: 10.1159/000324843. Epub 2011 Jul 6.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, et al.
Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):345.

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; et al.
Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859.

Fatty-acid binding protein 4 gene polymorphisms and plasma levels in children with obstructive sleep apnea.
Bhushan B, Khalyfa A, Spruyt K, Kheirandish-Gozal L, Capdevila OS, Bhattacharjee R, Kim J, Keating B, Hakonarson H, Gozal D.
Sleep Med. 2011 Aug;12(7):666-71. doi: 10.1016/j.sleep.2010.12.014. Epub 2011 Jun 12.

Genome-wide association studies (GWAS): impact on elucidating the aetiology of diabetes.
Hakonarson H, Grant SF.
Diabetes Metab Res Rev. 2011 Oct;27(7):685-96. doi: 10.1002/dmrr.1221.

A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD.
Jain M, Vélez JI, Acosta MT, Palacio LG, Balog J, Roessler E, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, et al.
Mol Psychiatry. 2012 Jul;17(7):741-7. doi: 10.1038/mp.2011.59. Epub 2011 May 24.

A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
Wild PS, Zeller T, Schillert A, Szymczak S, Sinning CR, Deiseroth A, Schnabel RB, Lubos E, Keller T, Eleftheriadis MS, Bickel C, Rupprecht HJ, Wilde S, Rossmann H, Diemert P, Cupples LA, Perret C, Erdmann J, Stark K, Kleber ME, Epstein SE, Voight BF, et al.
Circ Cardiovasc Genet. 2011 Aug 1;4(4):403-12. doi: 10.1161/CIRCGENETICS.110.958728. Epub 2011 May 23.

Planning a genome-wide association study: points to consider.
Hakonarson H, Grant SF.
Ann Med. 2011;43(6):451-60. doi: 10.3109/07853890.2011.573803. Epub 2011 May 19. Review.

A genome-wide association study on obesity and obesity-related traits.
Wang K, Li WD, Zhang CK, Wang Z, Glessner JT, Grant SF, Zhao H, Hakonarson H, Price RA.
PLoS One. 2011 Apr 28;6(4):e18939. doi: 10.1371/journal.pone.0018939. Erratum in: PLoS One. 2012;7(2). doi: 10.1371/annotation/a34ee94e-3e6a-48bd-a19e-398a4bb88580.

A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.
Kanetsky PA, Mitra N, Vardhanabhuti S, Vaughn DJ, Li M, Ciosek SL, Letrero R, D'Andrea K, Vaddi M, Doody DR, Weaver J, Chen C, Starr JR, HÃ¥konarson H, Rader DJ, Godwin AK, Reilly MP, Schwartz SM, Nathanson KL.
Hum Mol Genet. 2011 Aug 1;20(15):3109-17. doi: 10.1093/hmg/ddr207. Epub 2011 May 6.

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.
Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L; Autism Genome Project, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L.
Eur J Hum Genet. 2011 Oct;19(10):1082-9. doi: 10.1038/ejhg.2011.75. Epub 2011 Apr 27.

Genome-wide association identifies diverse causes of common variable immunodeficiency.
Orange JS, Glessner JT, Resnick E, Sullivan KE, Lucas M, Ferry B, Kim CE, Hou C, Wang F, Chiavacci R, Kugathasan S, Sleasman JW, Baldassano R, Perez EE, Chapel H, Cunningham-Rundles C, Hakonarson H.
J Allergy Clin Immunol. 2011 Jun;127(6):1360-7.e6. doi: 10.1016/j.jaci.2011.02.039. Epub 2011 Apr 17.

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, et al.
Nat Genet. 2011 May;43(5):436-41. doi: 10.1038/ng.801. Epub 2011 Apr 3.

Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci.
Nguyen le B, Diskin SJ, Capasso M, Wang K, Diamond MA, Glessner J, Kim C, Attiyeh EF, Mosse YP, Cole K, Iolascon A, Devoto M, Hakonarson H, Li HK, Maris JM.
PLoS Genet. 2011 Mar;7(3):e1002026. doi: 10.1371/journal.pgen.1002026. Epub 2011 Mar 17.

The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels.
Mehta NN, Li M, William D, Khera AV, DerOhannessian S, Qu L, Ferguson JF, McLaughlin C, Shaikh LH, Shah R, Patel PN, Bradfield JP, He J, Stylianou IM, Hakonarson H, Rader DJ, Reilly MP.
Eur Heart J. 2011 Apr;32(8):963-71. doi: 10.1093/eurheartj/ehr091. Epub 2011 Mar 17. Review.

Rare structural variation of synapse and neurotransmission genes in autism.
Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS.
Mol Psychiatry. 2012 Apr;17(4):402-11. doi: 10.1038/mp.2011.10. Epub 2011 Mar 1.

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies.
Dougherty MJ, Wilmoth DM, Tooke LS, Shaikh TH, Gai X, Hakonarson H, Biegel JA.
Cancer Genet. 2011 Jan;204(1):26-38. doi: 10.1016/j.cancergencyto.2010.10.007.

Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest.
Roshan U, Chikkagoudar S, Wei Z, Wang K, Hakonarson H.
Nucleic Acids Res. 2011 May;39(9):e62. doi: 10.1093/nar/gkr064. Epub 2011 Feb 11.

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R, Amininejad L, Bumpstead S, Baidoo L, Baldassano RN, Barclay M, Bayless TM, Brand S, Büning C, Colombel JF, Denson LA, et al.
Nat Genet. 2011 Mar;43(3):246-52. doi: 10.1038/ng.764. Epub 2011 Feb 6. Erratum in: Nat Genet. 2011 Sep;43(9):919.

Neutral mitochondrial heteroplasmy and the influence of aging.
Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H.
Hum Mol Genet. 2011 Apr 15;20(8):1653-9. doi: 10.1093/hmg/ddr043. Epub 2011 Feb 4.

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.
Levinson DF, Duan J, Oh S, Wang K, Sanders AR, Shi J, Zhang N, Mowry BJ, Olincy A, Amin F, Cloninger CR, Silverman JM, Buccola NG, Byerley WF, Black DW, Kendler KS, Freedman R, Dudbridge F, Pe'er I, Hakonarson H, Bergen SE, Fanous AH, et al.
Am J Psychiatry. 2011 Mar;168(3):302-16. doi: 10.1176/appi.ajp.2010.10060876. Epub 2011 Feb 1.

Structural variations in attention-deficit hyperactivity disorder.
Elia J, Gai X, Hakonarson H, White PS.
Lancet. 2011 Jan 29;377(9763):377-8; author reply 378. doi: 10.1016/S0140-6736(11)60120-7. No abstract available.

The genetics of asthma and allergic disorders.
March ME, Sleiman PM, Hakonarson H.
Discov Med. 2011 Jan;11(56):35-45. Review.

ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio.
Meyer NJ, Li M, Feng R, Bradfield J, Gallop R, Bellamy S, Fuchs BD, Lanken PN, Albelda SM, Rushefski M, Aplenc R, Abramova H, Atochina-Vasserman EN, Beers MF, Calfee CS, Cohen MJ, Pittet JF, Christiani DC, O'Keefe GE, Ware LB, May AK, Wurfel MM, et al.
Am J Respir Crit Care Med. 2011 May 15;183(10):1344-53. doi: 10.1164/rccm.201005-0701OC. Epub 2011 Jan 21.

Genome-wide association: from confounded to confident.
Glessner JT, Hakonarson H.
Neuroscientist. 2011 Apr;17(2):174-84. doi: 10.1177/1073858410381533. Epub 2011 Jan 20. Review.

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology.
Rossin EJ, Lage K, Raychaudhuri S, Xavier RJ, Tatar D, Benita Y; International Inflammatory Bowel Disease Genetics Constortium, Cotsapas C, Daly MJ.
PLoS Genet. 2011 Jan 13;7(1):e1001273. doi: 10.1371/journal.pgen.1001273.

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation.
Cappola TP, Matkovich SJ, Wang W, van Booven D, Li M, Wang X, Qu L, Sweitzer NK, Fang JC, Reilly MP, Hakonarson H, Nerbonne JM, Dorn GW 2nd.
Proc Natl Acad Sci U S A. 2011 Feb 8;108(6):2456-61. doi: 10.1073/pnas.1017494108. Epub 2011 Jan 19.

Obesity-susceptibility loci have a limited influence on birth weight: a meta-analysis of up to 28,219 individuals.
Kilpeläinen TO, den Hoed M, Ong KK, Grøntved A, Brage S; Early Growth Genetics Consortium, Jameson K, Cooper C, Khaw KT, Ekelund U, Wareham NJ, Loos RJ.
Am J Clin Nutr. 2011 Apr;93(4):851-60. doi: 10.3945/ajcn.110.000828. Epub 2011 Jan 19.

Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
Reilly MP, Li M, He J, Ferguson JF, Stylianou IM, Mehta NN, Burnett MS, Devaney JM, Knouff CW, Thompson JR, Horne BD, Stewart AF, Assimes TL, Wild PS, Allayee H, Nitschke PL, Patel RS; Myocardial Infarction Genetics Consortium; Wellcome Trust Case Control Consortium, Martinelli N, Girelli D, Quyyumi AA, et al.
Lancet. 2011 Jan 29;377(9763):383-92. doi: 10.1016/S0140-6736(10)61996-4. Epub 2011 Jan 14.

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.
Sharma S, Gao X, Londono D, Devroy SE, Mauldin KN, Frankel JT, Brandon JM, Zhang D, Li QZ, Dobbs MB, Gurnett CA, Grant SF, Hakonarson H, Dormans JP, Herring JA, Gordon D, Wise CA.
Hum Mol Genet. 2011 Apr 1;20(7):1456-66. doi: 10.1093/hmg/ddq571. Epub 2011 Jan 7.

BMD-associated variation at the Osterix locus is correlated with childhood obesity in females.
Zhao J, Bradfield JP, Li M, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Frackelton EC, Chiavacci RM, Berkowitz RI, Zemel BS, Hakonarson H, Grant SF.
Obesity (Silver Spring). 2011 Jun;19(6):1311-4. doi: 10.1038/oby.2010.324. Epub 2011 Jan 6.

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, Lettre G, Ongen H, Rajagopalan R, Johnson T, Shen H, Nelson CP, Klopp N, Baumert J, Padmanabhan S, Pankratz N, Pankow JS, Shah S, Taylor K, Barnard J, Peters BJ, Maloney CM, et al.
Am J Hum Genet. 2011 Jan 7;88(1):6-18. doi: 10.1016/j.ajhg.2010.11.007. Epub 2010 Dec 30. Erratum in: Am J Hum Genet. 2012 Jun 8;90(6):1117. Tomaszweski, Maciej [corrected to Tomaszewski, Maciej].

Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder.
Glessner JT, Wang K, Sleiman PM, Zhang H, Kim CE, Flory JH, Bradfield JP, Imielinski M, Frackelton EC, Qiu H, Mentch F, Grant SF, Hakonarson H.
PLoS One. 2010 Dec 1;5(12):e15463. doi: 10.1371/journal.pone.0015463.

Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
Wang K, Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, Schnepp RW, Diamond M, Bosse K, Mayes PA, Glessner J, Kim C, Frackelton E, Garris M, Wang Q, Glaberson W, Chiavacci R, Nguyen L, Jagannathan J, Saeki N, Sasaki H, Grant SF, et al.
Nature. 2011 Jan 13;469(7329):216-20. doi: 10.1038/nature09609. Epub 2010 Dec 1.

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, Lees CW, Balschun T, Lee J, Roberts R, Anderson CA, Bis JC, Bumpstead S, Ellinghaus D, Festen EM, Georges M, Green T, Haritunians T, Jostins L, Latiano A, Mathew CG, Montgomery GW, et al.
Nat Genet. 2010 Dec;42(12):1118-25. doi: 10.1038/ng.717.

Analysing biological pathways in genome-wide association studies.
Wang K, Li M, Hakonarson H.
Nat Rev Genet. 2010 Dec;11(12):843-54. doi: 10.1038/nrg2884. Review.

A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.
Wang K, Zhang H, Bloss CS, Duvvuri V, Kaye W, Schork NJ, Berrettini W, Hakonarson H; Price Foundation Collaborative Group.
Mol Psychiatry. 2011 Sep;16(9):949-59. doi: 10.1038/mp.2010.107. Epub 2010 Nov 16.

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.
Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB.
J Med Genet. 2011 Jan;48(1):1-9. doi: 10.1136/jmg.2010.080382. Epub 2010 Oct 23.

The ubiquitin ligase adaptor Ndfip1 regulates T cell-mediated gastrointestinal inflammation and inflammatory bowel disease susceptibility.
Ramon HE, Riling CR, Bradfield J, Yang B, Hakonarson H, Oliver PM.
Mucosal Immunol. 2011 May;4(3):314-24. doi: 10.1038/mi.2010.69. Epub 2010 Oct 20.

NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome.
Ningappa M, Higgs BW, Weeks DE, Ashokkumar C, Duerr RH, Sun Q, Soltys KA, Bond GJ, Abu-Elmagd K, Mazariegos GV, Alissa F, Rivera M, Rudolph J, Squires R, Hakonarson H, Sindhi R.
Am J Gastroenterol. 2011 Jan;106(1):157-65. doi: 10.1038/ajg.2010.322. Epub 2010 Oct 19.

A genome-wide study reveals copy number variants exclusive to childhood obesity cases.
Glessner JT, Bradfield JP, Wang K, Takahashi N, Zhang H, Sleiman PM, Mentch FD, Kim CE, Hou C, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Zhao J, Chiavacci RM, Li M, Buxbaum JD, Berkowitz RI, Hakonarson H, Grant SF.
Am J Hum Genet. 2010 Nov 12;87(5):661-6. doi: 10.1016/j.ajhg.2010.09.014. Epub 2010 Oct 14.

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.
Assimes TL, Hólm H, Kathiresan S, Reilly MP, Thorleifsson G, Voight BF, Erdmann J, Willenborg C, Vaidya D, Xie C, Patterson CC, Morgan TM, Burnett MS, Li M, Hlatky MA, Knowles JW, Thompson JR, Absher D, Iribarren C, Go A, Fortmann SP, Sidney S, et al.
J Am Coll Cardiol. 2010 Nov 2;56(19):1552-63. doi: 10.1016/j.jacc.2010.06.022. Erratum in: J Am Coll Cardiol. 2011 Jan 25;57(4):520.

Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Waterworth DM, Ricketts SL, Song K, Chen L, Zhao JH, Ripatti S, Aulchenko YS, Zhang W, Yuan X, Lim N, Luan J, Ashford S, Wheeler E, Young EH, Hadley D, Thompson JR, Braund PS, Johnson T, Struchalin M, Surakka I, Luben R, Khaw KT, et al.
Arterioscler Thromb Vasc Biol. 2010 Nov;30(11):2264-76. doi: 10.1161/ATVBAHA.109.201020. Epub 2010 Sep 23.

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, Bouatia-Naji N, Langenberg C, Prokopenko I, Stolerman E, Sandhu MS, Heeney MM, Devaney JM, Reilly MP, Ricketts SL, Stewart AF, Voight BF, Willenborg C, Wright B, Altshuler D, Arking D, Balkau B, et al.
Diabetes. 2010 Dec;59(12):3229-39. doi: 10.2337/db10-0502. Epub 2010 Sep 21. Erratum in: Diabetes. 2011 Mar;60(3):1050-1. multiple author names added.

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Wang LS, Hranilovic D, Wang K, Lindquist IE, Yurcaba L, Petkovic ZB, Gidaya N, Jernej B, Hakonarson H, Bucan M.
BMC Med Genet. 2010 Sep 21;11:134. doi: 10.1186/1471-2350-11-134.

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D; EMBRACE, Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, et al.
Nat Genet. 2010 Oct;42(10):885-92. doi: 10.1038/ng.669. Epub 2010 Sep 19.

Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification.
Shen H, Bielak LF, Ferguson JF, Streeten EA, Yerges-Armstrong LM, Liu J, Post W, O'Connell JR, Hixson JE, Kardia SL, Sun YV, Jhun MA, Wang X, Mehta NN, Li M, Koller DL, Hakonarson H, Keating BJ, Rader DJ, Shuldiner AR, Peyser PA, Reilly MP, et al.
Arterioscler Thromb Vasc Biol. 2010 Dec;30(12):2648-54. doi: 10.1161/ATVBAHA.110.211805. Epub 2010 Sep 16.

Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
Neale BM, Medland SE, Ripke S, Asherson P, Franke B, Lesch KP, Faraone SV, Nguyen TT, Schäfer H, Holmans P, Daly M, Steinhausen HC, Freitag C, Reif A, Renner TJ, Romanos M, Romanos J, Walitza S, Warnke A, Meyer J, Palmason H, Buitelaar J, et al.
J Am Acad Child Adolesc Psychiatry. 2010 Sep;49(9):884-97. doi: 10.1016/j.jaac.2010.06.008. Epub 2010 Aug 1.

Unraveling the complex genetic underpinnings of asthma and allergic disorders.
Swarr DT, Hakonarson H.
Curr Opin Allergy Clin Immunol. 2010 Oct;10(5):434-42. doi: 10.1097/ACI.0b013e32833da71d. Review.

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.
Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P; Alzheimer's Disease Genetics Consortium, Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, et al.
Arch Neurol. 2010 Dec;67(12):1473-84. doi: 10.1001/archneurol.2010.201. Epub 2010 Aug 9. Erratum in: Arch Neurol. 2011 Feb;68(2):159.

Strategies for genetic studies of complex diseases.
Wang K, Bucan M, Grant SF, Schellenberg G, Hakonarson H.
Cell. 2010 Aug 6;142(3):351-3; author reply 353-5. doi: 10.1016/j.cell.2010.07.025. No abstract available.

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.
McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiménez González P, Fallas M, Manghi ER, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD.
Mol Autism. 2010 Mar 19;1(1):5. doi: 10.1186/2040-2392-1-5.

A genome-wide scan for common alleles affecting risk for autism.
Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, et al.
Hum Mol Genet. 2010 Oct 15;19(20):4072-82. doi: 10.1093/hmg/ddq307. Epub 2010 Jul 27.

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population.
St Pourcain B, Wang K, Glessner JT, Golding J, Steer C, Ring SM, Skuse DH, Grant SF, Hakonarson H, Davey Smith G.
Am J Psychiatry. 2010 Nov;167(11):1364-72. doi: 10.1176/appi.ajp.2010.09121789. Epub 2010 Jul 15. Erratum in: Am J Psychiatry. 2010 Oct;167(10):1283. Smith, George D [corrected to Davey Smith, George].

Parental ADHD status and its association with proband ADHD subtype and severity.
Takeda T, Stotesbery K, Power T, Ambrosini PJ, Berrettini W, Hakonarson H, Elia J.
J Pediatr. 2010 Dec;157(6):995-1000.e1. doi: 10.1016/j.jpeds.2010.05.053. Epub 2010 Jul 14.

Large copy-number variations are enriched in cases with moderate to extreme obesity.
Wang K, Li WD, Glessner JT, Grant SF, Hakonarson H, Price RA.
Diabetes. 2010 Oct;59(10):2690-4. doi: 10.2337/db10-0192. Epub 2010 Jul 9.

Leprosy and the adaptation of human toll-like receptor 1.
Wong SH, Gochhait S, Malhotra D, Pettersson FH, Teo YY, Khor CC, Rautanen A, Chapman SJ, Mills TC, Srivastava A, Rudko A, Freidin MB, Puzyrev VP, Ali S, Aggarwal S, Chopra R, Reddy BS, Garg VK, Roy S, Meisner S, Hazra SK, Saha B, et al.
PLoS Pathog. 2010 Jul 1;6:e1000979. doi: 10.1371/journal.ppat.1000979.

Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.
Lantieri F, Glessner JT, Hakonarson H, Elia J, Devoto M.
Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1127-33. doi: 10.1002/ajmg.b.31110.

Designing and implementing sample and data collection for an international genetics study: the Type 1 Diabetes Genetics Consortium (T1DGC).
Hilner JE, Perdue LH, Sides EG, Pierce JJ, Wägner AM, Aldrich A, Loth A, Albret L, Wagenknecht LE, Nierras C, Akolkar B; T1DGC.
Clin Trials. 2010;7(1 Suppl):S5-S32. doi: 10.1177/1740774510373497. Epub 2010 Jul 5.

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Wang K, Li M, Hakonarson H.
Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF.
BMC Med Genet. 2010 Jun 14;11:96. doi: 10.1186/1471-2350-11-96.

Functional impact of global rare copy number variation in autism spectrum disorders.
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, et al.
Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9.

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.
Stevens KN, Hakonarson H, Kim CE, Doevendans PA, Koeleman BP, Mital S, Raue J, Glessner JT, Coles JG, Moreno V, Granger A, Gruber SB, Gruber PJ.
PLoS One. 2010 May 26;5(5):e10855. doi: 10.1371/journal.pone.0010855.

Strong synaptic transmission impact by copy number variations in schizophrenia.
Glessner JT, Reilly MP, Kim CE, Takahashi N, Albano A, Hou C, Bradfield JP, Zhang H, Sleiman PM, Flory JH, Imielinski M, Frackelton EC, Chiavacci R, Thomas KA, Garris M, Otieno FG, Davidson M, Weiser M, Reichenberg A, Davis KL, Friedman JI, Cappola TP, et al.
Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10584-9. doi: 10.1073/pnas.1000274107. Epub 2010 May 20.

Recent advances in the genetics and genomics of asthma and related traits.
Sleiman PM, Hakonarson H.
Curr Opin Pediatr. 2010 Jun;22(3):307-12. doi: 10.1097/MOP.0b013e328339553d. Review.

Interpretation of association signals and identification of causal variants from genome-wide association studies.
Wang K, Dickson SP, Stolle CA, Krantz ID, Goldstein DB, Hakonarson H.
Am J Hum Genet. 2010 May 14;86(5):730-42. doi: 10.1016/j.ajhg.2010.04.003. Epub 2010 Apr 29.

Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P, Middleton L, Berrettini W, Knouff CW, Yuan X, Waeber G, Vollenweider P, Preisig M, Wareham NJ, Zhao JH, Loos RJ, Barroso I, Khaw KT, Grundy S, Barter P, Mahley R, Kesaniemi A, McPherson R, et al.
Nat Genet. 2010 May;42(5):436-40. doi: 10.1038/ng.572. Epub 2010 Apr 25.

Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond.
Imielinski M, Hakonarson H.
Pharmacogenomics. 2010 May;11(5):663-5. doi: 10.2217/pgs.10.56. Review. No abstract available.

In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium.
Qu HQ, Bradfield JP, Li Q, Kim C, Frackelton E, Grant SF, Hakonarson H, Polychronakos C.
Hum Mol Genet. 2010 Jun 15;19(12):2534-8. doi: 10.1093/hmg/ddq133. Epub 2010 Apr 8.

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.
Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, Lange LA, Bradfield JP, Kerkhof M, Marsh JA, Mägi R, Chen CM, Lyon HN, Kirin M, Adair LS, Aulchenko YS, Bennett AJ, Borja JB, et al.
Nat Genet. 2010 May;42(5):430-5. doi: 10.1038/ng.567. Epub 2010 Apr 6.

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.
Leyva-Vega M, Gerfen J, Thiel BD, Jurkiewicz D, Rand EB, Pawlowska J, Kaminska D, Russo P, Gai X, Krantz ID, Kamath BM, Hakonarson H, Haber BA, Spinner NB.
Am J Med Genet A. 2010 Apr;152A(4):886-95. doi: 10.1002/ajmg.a.33332.

Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
Rothenberg ME, Spergel JM, Sherrill JD, Annaiah K, Martin LJ, Cianferoni A, Gober L, Kim C, Glessner J, Frackelton E, Thomas K, Blanchard C, Liacouras C, Verma R, Aceves S, Collins MH, Brown-Whitehorn T, Putnam PE, Franciosi JP, Chiavacci RM, Grant SF, Abonia JP, et al.
Nat Genet. 2010 Apr;42(4):289-91. doi: 10.1038/ng.547. Epub 2010 Mar 7.

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.
Zajac A, Baek SH, Salhab I, Radecki MA, Kim S, Hakonarson H, Nah HD.
Am J Med Genet A. 2010 Mar;152A(3):770-6. doi: 10.1002/ajmg.a.33317.

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.
Wang K, Baldassano R, Zhang H, Qu HQ, Imielinski M, Kugathasan S, Annese V, Dubinsky M, Rotter JI, Russell RK, Bradfield JP, Sleiman PM, Glessner JT, Walters T, Hou C, Kim C, Frackelton EC, Garris M, Doran J, Romano C, Catassi C, Van Limbergen J, et al.
Hum Mol Genet. 2010 May 15;19(10):2059-67. doi: 10.1093/hmg/ddq078. Epub 2010 Feb 22.

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.
Arcos-Burgos M, Jain M, Acosta MT, Shively S, Stanescu H, Wallis D, Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, et al.
Mol Psychiatry. 2010 Nov;15(11):1053-66. doi: 10.1038/mp.2010.6. Epub 2010 Feb 16.

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, et al.
Nat Genet. 2010 Mar;42(3):234-9. doi: 10.1038/ng.536. Epub 2010 Feb 14.

Rare variants create synthetic genome-wide associations.
Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB.
PLoS Biol. 2010 Jan 26;8(1):e1000294. doi: 10.1371/journal.pbio.1000294.

Common variants in HSPB7 and FRMD4B associated with advanced heart failure.
Cappola TP, Li M, He J, Ky B, Gilmore J, Qu L, Keating B, Reilly M, Kim CE, Glessner J, Frackelton E, Hakonarson H, Syed F, Hindes A, Matkovich SJ, Cresci S, Dorn GW 2nd.
Circ Cardiovasc Genet. 2010 Apr;3(2):147-54. doi: 10.1161/CIRCGENETICS.109.898395. Epub 2010 Feb 2.

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB.
Hum Mol Genet. 2010 Apr 1;19(7):1263-75. doi: 10.1093/hmg/ddq003. Epub 2010 Jan 6.

Variants of DENND1B associated with asthma in children.
Sleiman PM, Flory J, Imielinski M, Bradfield JP, Annaiah K, Willis-Owen SA, Wang K, Rafaels NM, Michel S, Bonnelykke K, Zhang H, Kim CE, Frackelton EC, Glessner JT, Hou C, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson WR, Garris M, Chiavacci RM, et al.
N Engl J Med. 2010 Jan 7;362(1):36-44. doi: 10.1056/NEJMoa0901867. Epub 2009 Dec 23. Erratum in: N Engl J Med. 2012 Feb 16;366(7):672. Orange, Jordan M [corrected to Orange, Jordan S]. N Engl J Med. 2010 Sep 2;363(10):994.

Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.
Dubinsky MC, Mei L, Friedman M, Dhere T, Haritunians T, Hakonarson H, Kim C, Glessner J, Targan SR, McGovern DP, Taylor KD, Rotter JI.
Inflamm Bowel Dis. 2010 Aug;16(8):1357-66. doi: 10.1002/ibd.21174.

Can the genetics of type 1 and type 2 diabetes shed light on the genetics of latent autoimmune diabetes in adults?
Grant SF, Hakonarson H, Schwartz S.
Endocr Rev. 2010 Apr;31(2):183-93. doi: 10.1210/er.2009-0029. Epub 2009 Dec 10. Review.

The type I diabetes association of the IL2RA locus.
Qu HQ, Bradfield JP, Bélisle A, Grant SF, Hakonarson H, Polychronakos C; Type I Diabetes Genetics Consortium.
Genes Immun. 2009 Dec;10 Suppl 1:S42-8. doi: 10.1038/gene.2009.90.

Remapping the type I diabetes association of the CTLA4 locus.
Qu HQ, Bradfield JP, Grant SF, Hakonarson H, Polychronakos C; Type I Diabetes Genetics Consortium.
Genes Immun. 2009 Dec;10 Suppl 1:S27-32. doi: 10.1038/gene.2009.88.

An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6.
Fairfax BP, Vannberg FO, Radhakrishnan J, Hakonarson H, Keating BJ, Hill AV, Knight JC.
Hum Mol Genet. 2010 Feb 15;19(4):720-30. doi: 10.1093/hmg/ddp530. Epub 2009 Nov 26.

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.
Zhao J, Bradfield JP, Zhang H, Annaiah K, Wang K, Kim CE, Glessner JT, Frackelton EC, Otieno FG, Doran J, Thomas KA, Garris M, Hou C, Chiavacci RM, Li M, Berkowitz RI, Hakonarson H, Grant SF.
Diabetes. 2010 Mar;59(3):751-5. doi: 10.2337/db09-0972. Epub 2009 Nov 23.

Common variants at five new loci associated with early-onset inflammatory bowel disease.
Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, Kugathasan S, Bradfield JP, Walters TD, Sleiman P, Kim CE, Muise A, Wang K, Glessner JT, Saeed S, Zhang H, Frackelton EC, Hou C, Flory JH, Otieno G, Chiavacci RM, Grundmeier R, et al.
Nat Genet. 2009 Dec;41(12):1335-40. doi: 10.1038/ng.489. Epub 2009 Nov 15.

A genome-wide association study on African-ancestry populations for asthma.
Mathias RA, Grant AV, Rafaels N, Hand T, Gao L, Vergara C, Tsai YJ, Yang M, Campbell M, Foster C, Gao P, Togias A, Hansel NN, Diette G, Adkinson NF, Liu MC, Faruque M, Dunston GM, Watson HR, Bracken MB, Hoh J, Maul P, et al.
J Allergy Clin Immunol. 2010 Feb;125(2):336-346.e4. doi: 10.1016/j.jaci.2009.08.031. Epub 2009 Nov 11.

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, Willenborg C, Wright B, Chen L, Li M, Salo P, Voight BF, Burns P, Laskowski RA, Xue Y, Menzel S, Altshuler D, Bradley JR, Bumpstead S, Burnett MS, Devaney J, Döring A, et al.
Nat Genet. 2009 Nov;41(11):1182-90. doi: 10.1038/ng.467. Epub 2009 Oct 11.

From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.
Wei Z, Wang K, Qu HQ, Zhang H, Bradfield J, Kim C, Frackleton E, Hou C, Glessner JT, Chiavacci R, Stanley C, Monos D, Grant SF, Polychronakos C, Hakonarson H.
PLoS Genet. 2009 Oct;5(10):e1000678. doi: 10.1371/journal.pgen.1000678. Epub 2009 Oct 9.

A cis-acting regulatory variant in the IL2RA locus.
Qu HQ, Verlaan DJ, Ge B, Lu Y, Lam KC, Grabs R, Harmsen E, Hudson TJ, Hakonarson H, Pastinen T, Polychronakos C.
J Immunol. 2009 Oct 15;183(8):5158-62. doi: 10.4049/jimmunol.0901337. Epub 2009 Sep 30.

Genetic determinants of pediatric inflammatory bowel disease: is age of onset genetically determined?
Scherr R, Essers J, Hakonarson H, Kugathasan S.
Dig Dis. 2009;27(3):236-9. doi: 10.1159/000228555. Epub 2009 Sep 24. Review.

Common variants in polygenic schizophrenia.
Glessner JT, Hakonarson H.
Genome Biol. 2009;10(9):236. doi: 10.1186/gb-2009-10-9-236. Epub 2009 Sep 29. Review.

17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry.
Flory JH, Sleiman PM, Christie JD, Annaiah K, Bradfield J, Kim CE, Glessner J, Imielinski M, Li H, Frackelton EC, Cuiping H, Otieno G, Thomas K, Smith R, Glaberson W, Garris M, Chiavacci R, Allen J, Spergel J, Grundmeier R, Grunstein M, Magnusson M, et al.
J Allergy Clin Immunol. 2009 Sep;124(3):605-7. doi: 10.1016/j.jaci.2009.05.047. Epub 2009 Aug 5. No abstract available.

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.
Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE, Bradfield JP, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Chiavacci RM, Nah HD, Kirschner RE, Hakonarson H.
J Pediatr. 2009 Dec;155(6):909-13. doi: 10.1016/j.jpeds.2009.06.020. Epub 2009 Aug 4.

Multiple testing in genome-wide association studies via hidden Markov models.
Wei Z, Sun W, Wang K, Hakonarson H.
Bioinformatics. 2009 Nov 1;25(21):2802-8. doi: 10.1093/bioinformatics/btp476. Epub 2009 Aug 4.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, et al.
Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10.

Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.
Zhao J, Li M, Bradfield JP, Wang K, Zhang H, Sleiman P, Kim CE, Annaiah K, Glaberson W, Glessner JT, Otieno FG, Thomas KA, Garris M, Hou C, Frackelton EC, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF.
Diabetes. 2009 Oct;58(10):2414-8. doi: 10.2337/db09-0506. Epub 2009 Jul 10.

Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders.
Hakonarson H, Grant SF.
Semin Immunol. 2009 Dec;21(6):355-62. doi: 10.1016/j.smim.2009.06.001. Epub 2009 Jul 1. Review.

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, et al.
PLoS Genet. 2009 Jun;5(6):e1000536. doi: 10.1371/journal.pgen.1000536. Epub 2009 Jun 26.

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS.
Mol Psychiatry. 2010 Jun;15(6):637-46. doi: 10.1038/mp.2009.57. Epub 2009 Jun 23. Erratum in: Mol Psychiatry. 2010 Nov;15(11):1122.

Copy number variation at 1q21.1 associated with neuroblastoma.
Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Mossé YP, Wood A, Lynch JE, Pecor K, Diamond M, Winter C, Wang K, Kim C, Geiger EA, McGrady PW, Blakemore AI, London WB, Shaikh TH, Bradfield J, Grant SF, et al.
Nature. 2009 Jun 18;459(7249):987-91. doi: 10.1038/nature08035.

Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.
Kanetsky PA, Mitra N, Vardhanabhuti S, Li M, Vaughn DJ, Letrero R, Ciosek SL, Doody DR, Smith LM, Weaver J, Albano A, Chen C, Starr JR, Rader DJ, Godwin AK, Reilly MP, Hakonarson H, Schwartz SM, Nathanson KL.
Nat Genet. 2009 Jul;41(7):811-5. doi: 10.1038/ng.393. Epub 2009 May 31.

The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.
Zhao J, Bradfield JP, Li M, Wang K, Zhang H, Kim CE, Annaiah K, Glessner JT, Thomas K, Garris M, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF.
Obesity (Silver Spring). 2009 Dec;17(12):2254-7. doi: 10.1038/oby.2009.159. Epub 2009 May 28.

Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies.
Qu HQ, Grant SF, Bradfield JP, Kim C, Frackelton E, Hakonarson H, Polychronakos C.
J Med Genet. 2009 Aug;46(8):553-4. doi: 10.1136/jmg.2009.067140. Epub 2009 May 21.

Nocturnal enuresis: a suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder.
Elia J, Takeda T, Deberardinis R, Burke J, Accardo J, Ambrosini PJ, Blum NJ, Brown LW, Lantieri F, Berrettini W, Devoto M, Hakonarson H.
J Pediatr. 2009 Aug;155(2):239-44.e5. doi: 10.1016/j.jpeds.2009.02.031. Epub 2009 May 15.

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, Julier C, Morahan G, Nerup J, Nierras C, Plagnol V, Pociot F, Schuilenburg H, Smyth DJ, Stevens H, Todd JA, Walker NM, Rich SS; Type 1 Diabetes Genetics Consortium.
Nat Genet. 2009 Jun;41(6):703-7. doi: 10.1038/ng.381. Epub 2009 May 10.

Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.
Himes BE, Hunninghake GM, Baurley JW, Rafaels NM, Sleiman P, Strachan DP, Wilk JB, Willis-Owen SA, Klanderman B, Lasky-Su J, Lazarus R, Murphy AJ, Soto-Quiros ME, Avila L, Beaty T, Mathias RA, Ruczinski I, Barnes KC, Celedón JC, Cookson WO, Gauderman WJ, Gilliland FD, et al.
Am J Hum Genet. 2009 May;84(5):581-93. doi: 10.1016/j.ajhg.2009.04.006. Epub 2009 May 7.

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, Mosse YP, Kim C, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Garris M, McConville C, London WB, Seeger RC, Grant SF, et al.
Nat Genet. 2009 Jun;41(6):718-23. doi: 10.1038/ng.374. Epub 2009 May 3.

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, et al.
Nature. 2009 May 28;459(7246):569-73. doi: 10.1038/nature07953. Epub 2009 Apr 28.

Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, et al.
Nature. 2009 May 28;459(7246):528-33. doi: 10.1038/nature07999. Epub 2009 Apr 28.

Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A.
Elia J, Capasso M, Zaheer Z, Lantieri F, Ambrosini P, Berrettini W, Devoto M, Hakonarson H.
Psychiatr Genet. 2009 Jun;19(3):134-41. doi: 10.1097/YPG.0b013e32832a5043.

Genomewide association studies: history, rationale, and prospects for psychiatric disorders.
Psychiatric GWAS Consortium Coordinating Committee, Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, Sullivan PF.
Am J Psychiatry. 2009 May;166(5):540-56. doi: 10.1176/appi.ajp.2008.08091354. Epub 2009 Apr 1. Review.

Genome-wide association studies in type 1 diabetes.
Grant SF, Hakonarson H.
Curr Diab Rep. 2009 Apr;9(2):157-63. Review.

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.
Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA.
Clin Cancer Res. 2009 Mar 15;15(6):1923-30. doi: 10.1158/1078-0432.CCR-08-2091. Epub 2009 Mar 10.

Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry.
Grant SF, Bradfield JP, Zhang H, Wang K, Kim CE, Annaiah K, Santa E, Glessner JT, Thomas K, Garris M, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Imielinski M, Chiavacci RM, Li M, Berkowitz RI, Hakonarson H.
Obesity (Silver Spring). 2009 Jul;17(7):1461-5. doi: 10.1038/oby.2009.53. Epub 2009 Mar 5.

Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease.
Wang K, Zhang H, Kugathasan S, Annese V, Bradfield JP, Russell RK, Sleiman PM, Imielinski M, Glessner J, Hou C, Wilson DC, Walters T, Kim C, Frackelton EC, Lionetti P, Barabino A, Van Limbergen J, Guthery S, Denson L, Piccoli D, Li M, Dubinsky M, et al.
Am J Hum Genet. 2009 Mar;84(3):399-405. doi: 10.1016/j.ajhg.2009.01.026. Epub 2009 Feb 26.

Genomic landscape of a three-generation pedigree segregating affective disorder.
Yang S, Wang K, Gregory B, Berrettini W, Wang LS, Hakonarson H, Bucan M.
PLoS One. 2009;4(2):e4474. doi: 10.1371/journal.pone.0004474. Epub 2009 Feb 13.

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
Myocardial Infarction Genetics Consortium, Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, Siscovick DS, O'Donnell CJ, et al.
Nat Genet. 2009 Mar;41(3):334-41. doi: 10.1038/ng.327. Epub 2009 Feb 8. Erratum in: Nat Genet. 2009 Jun;41(6):762. Knouff, Christopher W [added]; Waterworth, Dawn M [added]; Walker, Max C [added]; Mooser, Vincent [added].

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.
Attiyeh EF, Diskin SJ, Attiyeh MA, Mossé YP, Hou C, Jackson EM, Kim C, Glessner J, Hakonarson H, Biegel JA, Maris JM.
Genome Res. 2009 Feb;19(2):276-83. doi: 10.1101/gr.075671.107. Epub 2009 Jan 13. Erratum in: Genome Res. 2009 Mar;19(3):520.

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.
Grant SF, Petri M, Bradfield JP, Kim CE, Santa E, Annaiah K, Frackelton EC, Glessner JT, Otieno FG, Shaner JL, Smith RM, Eckert AW, Chiavacci RM, Imielinski M, Sullivan KE, Hakonarson H.
Appl Clin Genet. 2009 Dec 9;2:1-5. Print 2009.

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH.
Eur J Med Genet. 2009 Jul-Aug;52(4):265-8. doi: 10.1016/j.ejmg.2008.11.005. Epub 2008 Dec 13.

ATOM: a powerful gene-based association test by combining optimally weighted markers.
Li M, Wang K, Grant SF, Hakonarson H, Li C.
Bioinformatics. 2009 Feb 15;25(4):497-503. doi: 10.1093/bioinformatics/btn641. Epub 2008 Dec 15.

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.
Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB.
Hum Mutat. 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863.

Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene.
Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA.
Brain Pathol. 2009 Jul;19(3):449-58. doi: 10.1111/j.1750-3639.2008.00225.x. Epub 2008 Oct 21. Erratum in: Brain Pathol. 2009 Jul;19(3):550.

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, Li M, Derohannessian S, de Bakker PI, Bailey SD, Montpetit A, Edmondson AC, Taylor K, et al.
PLoS One. 2008;3(10):e3583. doi: 10.1371/journal.pone.0003583. Epub 2008 Oct 31.

Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
Grant SF, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Skraban R, Imielinski M, Chiavacci RM, Grundmeier RW, Stanley CA, Kirsch SE, et al.
Diabetes. 2009 Jan;58(1):290-5. doi: 10.2337/db08-1022. Epub 2008 Oct 7.

Modeling genetic inheritance of copy number variations.
Wang K, Chen Z, Tadesse MG, Glessner J, Grant SF, Hakonarson H, Bucan M, Li M.
Nucleic Acids Res. 2008 Dec;36(21):e138. doi: 10.1093/nar/gkn641. Epub 2008 Oct 2.

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.
Diskin SJ, Li M, Hou C, Yang S, Glessner J, Hakonarson H, Bucan M, Maris JM, Wang K.
Nucleic Acids Res. 2008 Nov;36(19):e126. doi: 10.1093/nar/gkn556. Epub 2008 Sep 10.

ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.
Sleiman PM, Annaiah K, Imielinski M, Bradfield JP, Kim CE, Frackelton EC, Glessner JT, Eckert AW, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson W, Garris M, Gunnlaugsson S, Chiavacci RM, Allen J, Spergel J, Grundmeier R, Grunstein MM, Magnusson M, Bisgaard H, et al.
J Allergy Clin Immunol. 2008 Dec;122(6):1225-7. doi: 10.1016/j.jaci.2008.06.041. Epub 2008 Aug 28. No abstract available.

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
Kugathasan S, Baldassano RN, Bradfield JP, Sleiman PM, Imielinski M, Guthery SL, Cucchiara S, Kim CE, Frackelton EC, Annaiah K, Glessner JT, Santa E, Willson T, Eckert AW, Bonkowski E, Shaner JL, Smith RM, Otieno FG, Peterson N, Abrams DJ, Chiavacci RM, Grundmeier R, et al.
Nat Genet. 2008 Oct;40(10):1211-5. doi: 10.1038/ng.203. Epub 2008 Aug 31.

Identification of ALK as a major familial neuroblastoma predisposition gene.
Mossé YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM.
Nature. 2008 Oct 16;455(7215):930-5. doi: 10.1038/nature07261. Epub 2008 Aug 24.

Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection.
Sindhi R, Higgs BW, Weeks DE, Ashokkumar C, Jaffe R, Kim C, Wilson P, Chien N, Glessner J, Talukdar A, Mazariegos G, Barmada MM, Frackleton E, Petro N, Eckert A, Hakonarson H, Ferrell R.
Gastroenterology. 2008 Sep;135(3):830-9, 839.e1-10. doi: 10.1053/j.gastro.2008.05.080. Epub 2008 Jun 3.

Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.
Behrens EM, Finkel TH, Bradfield JP, Kim CE, Linton L, Casalunovo T, Frackelton EC, Santa E, Otieno FG, Glessner JT, Chiavacci RM, Grant SF, Hakonarson H.
Arthritis Rheum. 2008 Jul;58(7):2206-7. doi: 10.1002/art.23603. No abstract available.

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U.
Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3.

Microarray technology and applications in the arena of genome-wide association.
Grant SF, Hakonarson H.
Clin Chem. 2008 Jul;54(7):1116-24. doi: 10.1373/clinchem.2008.105395. Epub 2008 May 22. Review.

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.
Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole KA, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, et al.
N Engl J Med. 2008 Jun 12;358(24):2585-93. doi: 10.1056/NEJMoa0708698. Epub 2008 May 7.

Association analysis of type 2 diabetes Loci in type 1 diabetes.
Qu HQ, Grant SF, Bradfield JP, Kim C, Frackelton E, Hakonarson H, Polychronakos C.
Diabetes. 2008 Jul;57(7):1983-6. doi: 10.2337/db08-0270. Epub 2008 Apr 21.

Classification of genetic profiles of Crohn's disease: a focus on the ATG16L1 gene.
Grant SF, Baldassano RN, Hakonarson H.
Expert Rev Mol Diagn. 2008 Mar;8(2):199-207. doi: 10.1586/14737159.8.2.199. Review.

Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP.
Grant SF, Li M, Bradfield JP, Kim CE, Annaiah K, Santa E, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Imielinski M, Eckert AW, Chiavacci RM, Berkowitz RI, Hakonarson H.
PLoS One. 2008 Mar 12;3(3):e1746. doi: 10.1371/journal.pone.0001746.

A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
Hakonarson H, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Onyiah CC, Skraban R, Chiavacci RM, Robinson LJ, Stanley CA, et al.
Diabetes. 2008 Apr;57(4):1143-6. doi: 10.2337/db07-1305. Epub 2008 Jan 15.

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M.
Genome Res. 2007 Nov;17(11):1665-74. Epub 2007 Oct 5.

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, et al.
Nature. 2007 Aug 2;448(7153):591-4. Epub 2007 Jul 15.

Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease.
Baldassano RN, Bradfield JP, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SF, Hakonarson H.
Gut. 2007 Aug;56(8):1171-3. No abstract available.

Recent development in pharmacogenomics: from candidate genes to genome-wide association studies.
Grant SF, Hakonarson H.
Expert Rev Mol Diagn. 2007 Jul;7(4):371-93. Review.

Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease.
Baldassano RN, Bradfield JP, Monos DS, Kim CE, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Kanterakis S, Shaner JL, Smith RM, Eckert AW, Robinson LJ, Onyiah CC, Abrams DJ, Chiavacci RM, Skraban R, Devoto M, Grant SF, Hakonarson H.
Clin Gastroenterol Hepatol. 2007 Aug;5(8):972-6. Epub 2007 Jul 6.

Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.
Jackson EM, Shaikh TH, Zhang F, Wainwright LM, Storm PB, Hakonarson H, Zackai EH, Biegel JA.
Am J Med Genet A. 2007 Aug 1;143A(15):1767-70.

[Common causes of sleep disturbances in Icelandic children who undergo sleep studies.]
Hákonarson H, Thornórsson A.
Laeknabladid. 2001 Oct;87(10):799-804. Icelandic.

[A mutation detection in a transcription factor for adipocyte development in children with severe obesity.]
Agústsson TT, Hákonarson H, Olafsson I, Hjaltadóttir G, Thornórsson AV.
Laeknabladid. 2001 Feb;87(2):119-124. Icelandic.

Role of FLAP and PDE4D in myocardial infarction and stroke: target discovery and future treatment options.
Hakonarson H.
Curr Treat Options Cardiovasc Med. 2006 May;8(3):183-92.

Research with Arctic peoples: unique research opportunities in heart, lung, blood and sleep disorders. Working group summary and recommendations.
Smith HS, Bjerregaard P, Chan HM, Corriveau A, Ebbesson SO, Etzel RA, Fabsitz RR, Hakonarson H, Hild C, Nobmann ED, Reading J, Tereshchenko L, Young TK, Howard BV.
Int J Circumpolar Health. 2006 Feb;65(1):79-90.

Familial aggregation of atrial fibrillation in Iceland.
Arnar DO, Thorvaldsson S, Manolio TA, Thorgeirsson G, Kristjansson K, Hakonarson H, Stefansson K.
Eur Heart J. 2006 Mar;27(6):708-12. Epub 2006 Jan 20.

A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction.
Helgadottir A, Manolescu A, Helgason A, Thorleifsson G, Thorsteinsdottir U, Gudbjartsson DF, Gretarsdottir S, Magnusson KP, Gudmundsson G, Hicks A, Jonsson T, Grant SF, Sainz J, O'Brien SJ, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Levey AI, Abramson JL, Reilly MP, Vaccarino V, Wolfe ML, et al.
Nat Genet. 2006 Jan;38(1):68-74. Epub 2005 Nov 10.

Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients.
Hakonarson H, Bjornsdottir US, Halapi E, Bradfield J, Zink F, Mouy M, Helgadottir H, Gudmundsdottir AS, Andrason H, Adalsteinsdottir AE, Kristjansson K, Birkisson I, Arnason T, Andresdottir M, Gislason D, Gislason T, Gulcher JR, Stefansson K.
Proc Natl Acad Sci U S A. 2005 Oct 11;102(41):14789-94. Epub 2005 Oct 3.

Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review.
Thakkinstian A, McEvoy M, Minelli C, Gibson P, Hancox B, Duffy D, Thompson J, Hall I, Kaufman J, Leung TF, Helms PJ, Hakonarson H, Halpi E, Navon R, Attia J.
Am J Epidemiol. 2005 Aug 1;162(3):201-11. Epub 2005 Jun 29. Review.

Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial.
Hakonarson H, Thorvaldsson S, Helgadottir A, Gudbjartsson D, Zink F, Andresdottir M, Manolescu A, Arnar DO, Andersen K, Sigurdsson A, Thorgeirsson G, Jonsson A, Agnarsson U, Bjornsdottir H, Gottskalksson G, Einarsson A, Gudmundsdottir H, Adalsteinsdottir AE, Gudmundsson K, Kristjansson K, Hardarson T, Kristinsson A, et al.
JAMA. 2005 May 11;293(18):2245-56.

Contribution of ADAM33 polymorphisms to the population risk of asthma.
Blakey J, Halapi E, Bjornsdottir US, Wheatley A, Kristinsson S, Upmanyu R, Stefansson K, Hakonarson H, Hall IP.
Thorax. 2005 Apr;60(4):274-6.

Association between the gene encoding 5-lipoxygenase-activating protein and stroke replicated in a Scottish population.
Helgadottir A, Gretarsdottir S, St Clair D, Manolescu A, Cheung J, Thorleifsson G, Pasdar A, Grant SF, Whalley LJ, Hakonarson H, Thorsteinsdottir U, Kong A, Gulcher J, Stefansson K, MacLeod MJ.
Am J Hum Genet. 2005 Mar;76(3):505-9. Epub 2005 Jan 7.

Linkage to apnea-hypopnea index across the life-span: is this a viable strategy?
Pack AI, Gislason T, Hakonarson H.
Am J Respir Crit Care Med. 2004 Dec 1;170(11):1260; author reply 1260-1. No abstract available.

Role and regulation of interleukin-1 molecules in pro-asthmatic sensitised airway smooth muscle.
Whelan R, Kim C, Chen M, Leiter J, Grunstein MM, Hakonarson H.
Eur Respir J. 2004 Oct;24(4):559-67.

Population genomics of drug response.
Halapi E, Stefansson K, Hakonarson H.
Am J Pharmacogenomics. 2004;4(2):73-82. Review.

Association of vitamin D binding protein variants with chronic mucus hypersecretion in Iceland.
Laufs J, Andrason H, Sigvaldason A, Halapi E, Thorsteinsson L, Jónasson K, Söebech E, Gislason T, Gulcher JR, Stefansson K, Hakonarson H.
Am J Pharmacogenomics. 2004;4(1):63-8.

Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma.
Birkisson IF, Halapi E, Bjornsdottir US, Shkolny DL, Adalsteinsdottir E, Arnason T, Gislason D, Gislason T, Gulcher J, Stefansson K, Hakonarson H.
Am J Respir Crit Care Med. 2004 May 1;169(9):1007-13. Epub 2004 Feb 12.

The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke.
Helgadottir A, Manolescu A, Thorleifsson G, Gretarsdottir S, Jonsdottir H, Thorsteinsdottir U, Samani NJ, Gudmundsson G, Grant SF, Thorgeirsson G, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Johannsson H, Gudmundsdottir O, Gurney ME, Sainz J, Thorhallsdottir M, Andresdottir M, Frigge ML, Topol EJ, Kong A, et al.
Nat Genet. 2004 Mar;36(3):233-9. Epub 2004 Feb 8.

Recent development in genomic and proteomic research for asthma.
Halapi E, Hakonarson H.
Curr Opin Pulm Med. 2004 Jan;10(1):22-30. Review.

Autocrine regulation of airway smooth muscle responsiveness.
Hakonarson H, Grunstein MM.
Respir Physiol Neurobiol. 2003 Sep 16;137(2-3):263-76. Review.

deCODE genetics, Inc.
Hakonarson H, Gulcher JR, Stefansson K.
Pharmacogenomics. 2003 Mar;4(2):209-15.

Genetic analyses in asthma: current concepts and future directions.
Hakonarson H, Halapi E.
Am J Pharmacogenomics. 2002;2(3):155-66. Review.

T lymphocyte-mediated changes in airway smooth muscle responsiveness are attributed to induced autocrine release and actions of IL-5 and IL-1beta.
Hakonarson H, Whelan R, Leiter J, Kim C, Chen M, Campbell D, Grunstein MM.
J Allergy Clin Immunol. 2002 Oct;110(4):624-33.

Advances in the development of genetic markers for the diagnosis of disease and drug response.
Halapi E, Hakonarson H.
Expert Rev Mol Diagn. 2002 Sep;2(5):411-21. Review.

Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome.
Gislason T, Johannsson JH, Haraldsson A, Olafsdottir BR, Jonsdottir H, Kong A, Frigge ML, Jonsdottir GM, Hakonarson H, Gulcher J, Stefansson K.
Am J Respir Crit Care Med. 2002 Sep 15;166(6):833-8.

A major susceptibility gene for asthma maps to chromosome 14q24.
Hakonarson H, Bjornsdottir US, Halapi E, Palsson S, Adalsteinsdottir E, Gislason D, Finnbogason G, Gislason T, Kristjansson K, Arnason T, Birkisson I, Frigge ML, Kong A, Gulcher JR, Stefansson K.
Am J Hum Genet. 2002 Sep;71(3):483-91. Epub 2002 Jul 15.

IL-13-dependent autocrine signaling mediates altered responsiveness of IgE-sensitized airway smooth muscle.
Grunstein MM, Hakonarson H, Leiter J, Chen M, Whelan R, Grunstein JS, Chuang S.
Am J Physiol Lung Cell Mol Physiol. 2002 Mar;282(3):L520-8.

Rhinovirus elicits proasthmatic changes in airway responsiveness independently of viral infection.
Grunstein MM, Hakonarson H, Whelan R, Yu Z, Grunstein JS, Chuang S.
J Allergy Clin Immunol. 2001 Dec;108(6):997-1004.

Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland.
Hakonarson H, Bjornsdottir US, Ostermann E, Arnason T, Adalsteinsdottir AE, Halapi E, Shkolny D, Kristjansson K, Gudnadottir SA, Frigge ML, Gislason D, Gislason T, Kong A, Gulcher J, Stefansson K.
Am J Respir Crit Care Med. 2001 Dec 1;164(11):2036-44.

Association between IL-1beta/TNF-alpha-induced glucocorticoid-sensitive changes in multiple gene expression and altered responsiveness in airway smooth muscle.
Hakonarson H, Halapi E, Whelan R, Gulcher J, Stefansson K, Grunstein MM.
Am J Respir Cell Mol Biol. 2001 Dec;25(6):761-71.

Autocrine signaling by IL-10 mediates altered responsiveness of atopic sensitized airway smooth muscle.
Grunstein MM, Hakonarson H, Leiter J, Chen M, Whelan R, Grunstein JS, Chuang S.
Am J Physiol Lung Cell Mol Physiol. 2001 Nov;281(5):L1130-7.

Current concepts on the genetics of asthma.
Hakonarson H, Wjst M.
Curr Opin Pediatr. 2001 Jun;13(3):267-77. Review.

Mechanism of cooperative effects of rhinovirus and atopic sensitization on airway responsiveness.
Grunstein MM, Hakonarson H, Hodinka RL, Maskeri N, Kim C, Chuang S.
Am J Physiol Lung Cell Mol Physiol. 2001 Feb;280(2):L229-38.

Bi-directional activation between human airway smooth muscle cells and T lymphocytes: role in induction of altered airway responsiveness.
Hakonarson H, Kim C, Whelan R, Campbell D, Grunstein MM.
J Immunol. 2001 Jan 1;166(1):293-303.

Intrinsic ICAM-1/LFA-1 activation mediates altered responsiveness of atopic asthmatic airway smooth muscle.
Grunstein MM, Hakonarson H, Maskeri N, Kim C, Chuang S.
Am J Physiol Lung Cell Mol Physiol. 2000 Jun;278(6):L1154-63.

Autocrine cytokine signaling mediates effects of rhinovirus on airway responsiveness.
Grunstein MM, Hakonarson H, Maskeri N, Chuang S.
Am J Physiol Lung Cell Mol Physiol. 2000 Jun;278(6):L1146-53.

Autocrine interaction between IL-5 and IL-1beta mediates altered responsiveness of atopic asthmatic sensitized airway smooth muscle.
Hakonarson H, Maskeri N, Carter C, Chuang S, Grunstein MM.
J Clin Invest. 1999 Sep;104(5):657-67.

Altered expression and action of the low-affinity IgE receptor FcepsilonRII (CD23) in asthmatic airway smooth muscle.
Hakonarson H, Carter C, Kim C, Grunstein MM.
J Allergy Clin Immunol. 1999 Sep;104(3 Pt 1):575-84.

Rhinovirus-mediated changes in airway smooth muscle responsiveness: induced autocrine role of interleukin-1beta.
Hakonarson H, Carter C, Maskeri N, Hodinka R, Grunstein MM.
Am J Physiol. 1999 Jul;277(1 Pt 1):L13-21.

Regulation of TH1- and TH2-type cytokine expression and action in atopic asthmatic sensitized airway smooth muscle.
Hakonarson H, Maskeri N, Carter C, Grunstein MM.
J Clin Invest. 1999 Apr;103(7):1077-87.

Elevated levels of the IGF-binding protein protease MMP-1 in asthmatic airway smooth muscle.
Rajah R, Nachajon RV, Collins MH, Hakonarson H, Grunstein MM, Cohen P.
Am J Respir Cell Mol Biol. 1999 Feb;20(2):199-208.

Regulation of second messengers associated with airway smooth muscle contraction and relaxation.
Hakonarson H, Grunstein MM.
Am J Respir Crit Care Med. 1998 Nov;158(5 Pt 3):S115-22. Review.

Mechanism of rhinovirus-induced changes in airway smooth muscle responsiveness.
Hakonarson H, Maskeri N, Carter C, Hodinka RL, Campbell D, Grunstein MM.
J Clin Invest. 1998 Nov 1;102(9):1732-41.

Autologously up-regulated Fc receptor expression and action in airway smooth muscle mediates its altered responsiveness in the atopic asthmatic sensitized state.
Hakonarson H, Grunstein MM.
Proc Natl Acad Sci U S A. 1998 Apr 28;95(9):5257-62.

Autocrine role of interleukin 1beta in altered responsiveness of atopic asthmatic sensitized airway smooth muscle.
Hakonarson H, Herrick DJ, Serrano PG, Grunstein MM.
J Clin Invest. 1997 Jan 1;99(1):117-24.

Mechanism of cytokine-induced modulation of beta-adrenoceptor responsiveness in airway smooth muscle.
Hakonarson H, Herrick DJ, Serrano PG, Grunstein MM.
J Clin Invest. 1996 Jun 1;97(11):2593-600.

Mechanism of impaired beta-adrenoceptor responsiveness in atopic sensitized airway smooth muscle.
Hakonarson H, Herrick DJ, Grunstein MM.
Am J Physiol. 1995 Nov;269(5 Pt 1):L645-52.

Pulmonary function abnormalities in Prader-Willi syndrome.
Hákonarson H, Moskovitz J, Daigle KL, Cassidy SB, Cloutier MM.
J Pediatr. 1995 Apr;126(4):565-70.