Bio

Joseph Glessner

Joseph Glessner, PhD, is an Adjunct Research Analyst with focus on copy number variations (CNVs). He has analyzed large cohorts of SNP microarray datasets and has taken statistical results into manuscripts. He has also fulfilled roles of developing quality control methods for SNP genotyping microarrays, provided collaborators with data and analytical support, and have led analyses of genotype and copy number variations from genome-wide association data that have been published in various high-impact journals, including Nature. His major focus has been copy number variation analysis of psychiatric disorders. He works with a CNV-calling method based on Hidden Markov Model (HMM) and implemented in the PennCNV software. He has also developed CNV association programs to characterize the complex overlap of CNV calls. He works to develop new genetic, computational, and statistical methods. He works on methods to improve robustness and reproducibility of signals from different array versions, types, processing centers, and sample sources.

Publications

CAG Publications

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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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 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.



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.



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.



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.



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.



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.



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.



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.



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.



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].



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.



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.



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 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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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].



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.



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.



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.



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.



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.



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.



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.



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.



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.



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.



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 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.



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.



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.



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 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.



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.



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.



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.



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 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.



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.