Hakon Hakonarson, M.D., Ph.D.

Hakon Hakonarson, M.D., Ph.D.

Hakon Hakonarson, M.D., Ph.D.

Director of the Center for Applied Genomics

Resume

  • Department: Pediatrics
  • Division: Human Genetics and Molecular Biology
  • Primary Address:
    The Joseph Stokes Jr. Research Institute, Room 1216E
    The Children's Hospital of Philadelphia
    3615 Civic Center Blvd.
    Philadelphia, PA 19104
  • 267-426-0088

    Expertise

    Dr. Hakonarson is investigating genetic factors that underlie complex medical disorders in children and adults.

    Appointments

    • Associate Professor of Pediatrics, University of Pennsylvania School of Medicine (2008 – present)
    • Adjunct Assistant Professor of Pediatrics, University of Pennsylvania School of Medicine (1999 – 2008)
    • Assistant Professor of Pediatrics at the Children's Hospital of Philadelphia (1996 – 1998)

    Education

    • PhD, University of Iceland, School of Medicine (2002)
    • MD, University of Iceland, School of Medicine (1986)

    Extended Bio

    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.

    Publications

    • Hakonarson H, Kim C, Whelan R, Leiter J, Campbell D.. T Lymphocyte-Induced Changes in Airway Smooth Muscle Responsiveness are Attributed to Autocrine Release and Interactions of Interleukin (IL)-5 and IL-1beta.. J Immunol (Submitted for Publication), 2000. .
    • Hakonarson H, Carter C, Kim C, Grunstein MM.. Regulation and Action of the Low-Affinity IgE Receptor, Fc RII (CD23), in Asthmatic Airways Smooth Muscle.. J Allerg Clin Immunol, 1999, in Altered Responsiveness of Atopic Asthmatic Sensitized Airway Smooth Muscle. J Clin Invest, 1997. Vol 99. 117-124.
    • Shan X, Chuang S, Hakonarson H, Grunstein MM.. Induction of the Pro-Asthmatic Phenotype in Airway Smooth Cells Transfected to Over-Express CD23.. .
    • Arnar DO, Thorvaldsson S, Manolio TS, Thorgeirsson G, Stefansson K, Hakonarson H.. Evidence of heritability of atrial fibrillation is stronger among patients under age of 60 years than those over 60.. .
    • Edvardsson V, Thoroddsson S, Palsson R, Indridason OS, Kristjansson K, Stefansson K, Hakonarson H.. Genetic Contribution to Calcium Kidney Stone Disease.. .
    • Gottfredsson M, Thorvaldsson S, Jonsson T, Kristjansson MS, Kristjansson K, Love A, Blondal T, Kristinsson KG, Stefansson K, Hakonarson H, Gulcher JR.. Lessons from the past: Familial aggregation analysis of fatal pandemic influenza (Spanish flu) in 1918.. .
    • Blakey JD, Halapi E, Hakonarson H, Hall IP.. Linkage Analysis for Nicotine Dependence: New Data and Meta-analysis.. .
    • Andersen K, Haraldsdottir S, Sigurdsson AF, Eyjolfsson K, Gudnason T, Scheving S, Jonsdottir B, Hakonarson H.. In-Stent Restenosis can be accurately predicted by 64-slice MDCT scan.. .
    • Kanterakis S, Roeder K, Kui S, Bradfield J, Grant SFA.. Long-range computational haplotyping of the Human Major Histocompatibility Complex reveals insufficiency of current computational methods for accurate haplotype reconstruction.. .
    • Shaikh TH, Gai X, Perin J, Rappaport E, White PS, Grant S, Shaffer L, Saitta S, Zackai EH, Hakonarson H.. Copy number variation in human genomic disorders.. .
    • Wang K, Hadley D, Liu R, Glessner J, Kim J, Li M, Hakonarson H, Bucan M.. Genetic analysis of copy number variation in autism families.. .
    • Spinner NB, Greco AJ, Thiel BT, Glessner J, Munoz P, Gai X, Piccoli DA, Hakonarson H, Krantz ID, Kamath BM.. SNP array mapping of 20p deletions: genotypes, phenotypes and copy number variation.. .
    • Wang K, Li M, Hadley D, Liu R, Glessner J, Grant S, Kim J, Hakonarson H, Bucan M.. High-resolution copy number variation detection: application of an integrated hidden Markov Model on Illumina whole-genome SNP genotyping data.. .
    • Hakonarson H, Grant SFA, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Capasso M, Skraban R, Chiavacci RM, Stanley CA, Kirsch SE, Monos DS, Devoto M, Qu HQ, Polychronnakos C.. A Genome-Wide Association Study Identifies a Novel Type 1 Diabetes Gene.. .
    • Hakonarson H, Steinsen H.. Remitting Seronegative Symmetrical Synovitis with Pitting Edema.. Icel Med J. Vol 75. 1989:187-189.
    • Steinsen H, Hakonarson H.. Reiters Syndrome, Long-term Prophylactic Antibiotic Therapy.. Icel Med J. Vol 77. 1991:319-323.
    • Hakonarson H, Moskovitz J, Daigle KL, Cassidy SB, Cloutier MM.. Pulmonary function abnormalities in Prader-Willi syndrome.. J Pediatr. Vol 126. 1995:565-70.
    • Hakonarson H, Herrick DJ, Grunstein MM.. Mechanism of impaired beta-adrenoceptor responsiveness in atopic sensitized airway smooth muscle.. Am J Physiol (Lung Cell Mol Physiol). Vol 269. 1995:L645-652.
    • Hakonarson H, Herrick DJ, Gonzalez-Serrano PG, Grunstein MM.. Mechanism of cytokine-induced modulation of beta-adrenoceptor responsiveness in airway smooth muscle.. J Clin Invest. Vol 97. 1996:2593-2600.
    • Hakonarson H.. Asthma.. In: The Five Minute Pediatric Consult. Williams and Wilkins; 1996:126-129.
    • Hakonarson H.. Bronchiolitis.. In: The Five Minute Pediatric Consult. Williams and Wilkins; 1996:178-180.
    • Hakonarson H.. Apnea.. In: The Five Minute Pediatric Consult. Williams and Wilkins; 1996:110-112.
    • Hakonarson H, Kravitz RM.. Hemoptysis.. In: Clinical Handbook of Pediatrics (CHOP). Williams and Wilkins; 1996 (2nd edition, 1999):344-352.
    • Hakonarson H, Grunstein MM.. Management of Childhood Asthma.. In: Asthma. Vol 2(126) . Raven Press; 1997:1847-1868.
    • Hakonarson H, Herrick DJ, Gonzalez-Serrano PG, Grunstein MM.. Autocrine role of interleukin 1beta in altered responsiveness of atopic asthmatic sensitized airway smooth muscle.. J Clin Invest. Vol 99. 1997:117-124.
    • Hakonarson H, Grunstein MM.. Autologously up-regulated Fc receptor expression and action in airway smooth muscle mediates its altered responsiveness in the atopic asthmatic sensitized state.. Proc Natl Acad Sci USA. Vol 95. 1998:5257-5262.
    • Hakonarson H, Maskeri N, Carter C, Hodinka RL, Campbell D, Grunstein MM.. Mechanism of rhinovirus-induced changes in airway smooth muscle responsiveness.. J Clin Invest. Vol 102. 1998:1732-1741.
    • Hakonarson H, Grunstein MM.. Regulation of second messengers associated with airway smooth muscle contraction and relaxation.. Am J Respir Crit Care Med. Vol 158. 1998:S115-S122.
    • Rajah R, Nachajon RV, Collins MH, Hakonarson H, Grunstein MM, Cohen P.. Elevated levels of the IGF-binding protein protease MMP-1 in asthmatic airway smooth muscle.. Am J Respir Cell Mol Biol. Vol 20. 1999:199-208.
    • Hakonarson H, Carter C, Maskeri N, Kim C, Grunstein MM.. Regulation of TH1- and TH2-type cytokine expression and action in asthmatic sensitized airway smooth muscle.. J Clin Invest. Vol 103. 1999:1077-1087.
    • Hakonarson H, Carter C, Maskeri N, Hodinka R, Grunstein MM.. Rhinovirus-mediated changes in airway smooth muscle responsiveness: induced autocrine role of interleukin-1beta.. Am J Physiol (Lung Cell Mol Physiol 21). 1999:L13-L21.
    • Hakonarson H, Maskeri N, Kim C, Grunstein MM.. Autocrine interaction between IL-5 and IL-1beta mediates altered responsiveness of atopic asthmatic sensitized airway smooth muscle.. J Clin Invest. Vol 104. 1999:657-667.
    • Hakonarson H, Carter C, Kim C, Grunstein MM.. Regulation and Action of the Low-Affinity IgE Receptor, Fc RII (CD23), in Asthmatic Airway Smooth Muscle.. J Allergy Clin Immunol. Vol 104. 1999:575-584.
    • Hakonarson H.. Medical Research. Business or Science. Collaboration between Academia and Industry.. Icel Med J. Vol 85(9). 1999:737-741.
    • Grunstein MM, Hakonarson H, Maskeri N, Kim C, Chuang S.. Intrinsic ICAM-1/LFA-1 activation mediates altered responsiveness of atopic asthmatic airway smooth muscle.. Am J Physiol Lung Cell Mol Physiol. Vol 278. 2000 Jun:L1154-63.
    • Grunstein MM, Hakonarson H, Maskeri N, Kim C, Chuang S.. Autocrine cytokine signaling mediates effects of rhinovirus on airway responsiveness.. Am J Physiol Lung Cell Mol Physiol. Vol 278(6). 2000 Jun:L1146-53.
    • Grunstein MM, Hakonarson H, Hodinka RL, Maskeri N, Kim C, Chuang S.. Mechanism of cooperative effects of rhinovirus and atopic sensitization on airway responsiveness.. Am J Physiol Lung Cell Mol Physiol. Vol 280(2). 2001 Feb:L229-38.
    • Grunstein MM, Hakonarson H, Leiter J, Chen M, Whelan R, Grunstein JS, Chuang S.. Autocrine signaling by IL-10 mediates altered responsiveness of atopic sensitized airway smooth muscle.. Am J Physiol Lung Cell Mol Physiol. Vol 281(5). 2001 Nov:L1130-7.
    • Hakonarson H, Kim C, Whelan R, Campbell D, Grunstein MM.. Bi-directional activation between human airway smooth muscle cells and T lymphocytes: role in induction of altered airway responsiveness.. J Immunol. Vol 166(1). 2001 Jan:293-303.
    • Grunstein MM, Hakonarson H, Whelan R, Yu Z, Grunstein JS, Chuang S.. Rhinovirus elicits proasthmatic changes in airway responsiveness independently of viral infection.. J Allergy Clin Immunol. Vol 108(6). 2001 Dec:997-1004.
    • 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.. Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland.. Am J Respir Crit Care Med. Vol 164(11). 2001 Dec:2036-44.
    • Hakonarson H, Halapi E, Whelan R, Gulcher J, Stefansson K, Grunstein MM.. Association between IL-1beta/TNF-alpha-induced glucocorticoid-sensitive changes in multiple gene expression and altered responsiveness in airway smooth muscle.. Am J Respir Cell Mol Biol. Vol 25(6). 2001:761-71.
    • Hakonarson H, Thorsson A.. Common causes of sleep disturbances in Icelandic children who undergo sleep studies.. Laeknabladid. Vol 87(10). 2001:799-804.
    • Agustsson TT, Hakonarson H, Olafsson I, Hjaltadottir G, Thornorsson AV.. A mutation detection in a transcription factor for adipocyte development in children with severe obesity.. Laeknabladid. Vol 87(2). 2001:119-124.
    • Hakonarson H, Wjst M.. Current concepts on the genetics of asthma.. Curr Opin Pediatr. Vol 13. 2001:267-77.
    • Hakonarson H, Halapi E.. Genetics of obstructive airways disease: Cystic fibrosis, alpha-1 antitrypsin deficiency and Hermansky Pudlak syndrome.. Immunol Allergy Clin North Am. 2002:243-60.
    • Hakonarson H, Halapi E.. Current Understanding of the Genetics of Asthma: Clinical Implications.. Am J Pharmacog. Vol 2. 2002:155-166.
    • Halapi E, Hakonarson H.. Advances in the Development of Genetic Markers for the Diagnosis of Disease and Drug Response.. Expert Rev Mol Diagn. Vol 2. 2002:411-21.
    • Grunstein MM, Hakonarson H, Leiter J, Chen M, Whelan R, Grunstein JS, Chuang S.. IL-13-dependent autocrine signaling mediates altered responsiveness of IgE-sensitized airway smooth muscle.. Am J Physiol Lung Cell Mol Physiol. Vol 282. 2002:L520-8.
    • Hakonarson H, Kim C, Whelan R, Grunstein MM.. T lymphocyte-mediated changes in airway smooth muscle responsiveness are attributed to induced autocrine actions and release of IL-5 and IL-1beta.. J Allergy Clin Immunol. Vol 110. 2002:624-33.
    • Gislason T, Johannsson JH, Haraldsson A, Olafsdottir BR, Jonsdottir H, Kong A, Frigge ML, Jonsdottir GM, Hakonarson H, Gulcher J, Stefansson K.. Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome.. Am J Respir Crit Care Med. Vol 166. 2002:833-8.
    • 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.. A major susceptibility gene for asthma maps to chromosome 14q24.. Am J Hum Genet. Vol 71. 2002:483.
    • Hakonarson H, Whelan RS, Leiter JA, Kim C, Grunstein MM.. Induction of Pro-Asthmatic Cytokine Expression and Production in T-Lymphocytes By Activated Human Airway Smooth Muscle Cells.. Am J Respir Crit Care Med. 2003.
    • Hakonarson H, Whelan RS, Leiter JA, Grunstein MM.. Upregulated NFATc and STAT5A Expression is Coupled to Induced Release and Autocrine Action of TH2- and Proinflammatory Cytokines in T-Lymphocyte-Activated Human Airway Smooth Muscle Cells.. Am J Respir Crit Care Med. 2003.
    • Hakonarson H, Gulcher J, Stefansson K.. deCODE genetics Inc.. Pharmacogenomics. Vol 4. 2003:209-215.
    • Hakonarson H, Stefansson K.. Emerging diagnostic and drug discovery platforms for common complex disease.. Current Drug Discovery. 2003 Mar:25-29.
    • Hakonarson H, Grunstein MM.. Autocrine Role of Airway Smooth Muscle in Asthma.. Respir Physiol Neurobiol. Vol 137. 2003:263-76.
    • Halapi E, Hakonarson H.. Recent Development in Genomic and Proteomic Research for Asthma.. Curr Opin Pulm Med. Vol 10. 2003:22-30.
    • Halapi E, Stefansson K, Hakonarson H.. Population Genomics of Drug Response.. Am J PharmacoGenomics. Vol 4. 2004:73-82.
    • Hakonarson H, Stefansson K.. Role of Pharmacogenomics in Drug Development.. Drug Dev Research. Vol 62. 2004:86-96.
    • Laufs J, Andrason H, Sigvaldason A, Halapi E, Thorsteinsson L, Jonasson K, Soebech E, Gislason T, Gulcher JR, Stefansson K, Hakonarson H.. Association of Vitamin D Binding Protein Variants with Chronic Mucus Hypersecretion in Iceland.. American Journal of PharmacoGenomics. Vol 4(1) . 2004:63-68(6).
    • 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, Thorhallsdottir M, Andresdottir M, Frigge ML, Topol EJ, Kong A, Gudnason V, Hakonarson H, Gulcher JR, Stefansson K.. The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke.. Nat Genet, online. 2004 Feb.
    • Birkisson IF, Halapi E, Bjornsdottir US, Shkolny DL, Adalsteinsdottir E, Arnason T, Gislason D, Gislason T, Gulcher J, Stefansson K, Hakonarson H.. Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma.. Am J Respir Crit Care Med. 2004 May.
    • Whelan R, Kim C, Leiter J, Grunstein MM, Hakonarson H.. Role and regulation of IL-1 molecules in pro-asthmatic sensitized airway smooth muscle.. Eur Respir J. Vol 24. 2004:559-67.
    • Pack AI, Gislason T, Hakonarson H.. Linkage to apnea-hypopnea index across the life-span: is this a viable strategy?. Am J Respir Crit Care Med. Vol 170. 2004:1260.
    • Hakonarson H, Halapi E, Sigvaldason A, Jonsson H, Gislason T, Andrason H, Kong A, Gulcher JR, Stefansson K.. A linkage study in heavy smokers identifies both causative and protective genes for chronic obstructive pulmonary disease.. Am J Respir Crit Care Med. 2004.
    • Halapi E, Bjornsdottir US, Upmanyu R, Jonsson H, Soebech BA, Gislason D, Kristinsson S, Gislason T, Kong A, Gulcher R, Stefansson K, Hakonarson H.. Genome-wide search in asthma and atopy patients in Iceland identifies multiple loci of genome-wide significance but fails to identify linkage or association to the ADMA33 locus on chr 20p.. Am J Respir Crit Care Med. 2004.
    • Arnar DO, Thorvaldsson S, Manolio T, Thorgeirsson G, Stefansson K, Hakonarson H.. Familial aggregation of atrial fibrillation in Iceland.. Am J Hum Genet. 2004.
    • Karason A, Steinsson K, Hauksson VB, Halapi E, Jonsson H, Jonsdottir G, Gulcher J, Stefansson K, Hakonarson H.. Genome-Wide significant Non-MHC locus in Rheumatoid Arthritis families from Iceland.. Am J Hum Genet. 2004.
    • Halapi E, Sigvaldason A, Gislason T, Hakonarson H, Hall I, Reykjavik, Iceland, Nottingham, England. A Genome Wide Screen for Smoking Susceptibility Suggests that Several Genes of Moderate Effect May Be Involved.. Am J Respir Crit Care Med. 2005.
    • 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, Gudnason V, Quyyumi AA, Topol EJ, Rader DJ, Thorgeirsson G, Gulcher JR, Hakonarson H, Kong A, Stefansson K.. A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction.. Am J Hum Genet. 2005.
    • 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.. Association between the Gene Encoding 5-Lipoxygenase-Activating Protein and Stroke Replicated in a Scottish Population.. Am J Hum Genet. Vol 7. 2005:76.
    • Blakey J, Halapi E, Bjornsdottir US, Wheatley A, Kristinsson S, Upmanyu R, Stefansson K, Hakonarson H, Hall IP.. Contribution of ADAM33 polymorphisms to the population risk of asthma.. Thorax. Vol 60(4). 2005:274-6.
    • Hakonarson H, Thorvaldsson S, Helgadottir A, Gudbjartsson D, Zink F, Andresdottir M, Arnar DO, Andersen K, Sigurdsson A, Thorgeirsson G, Jonsson A, Agnarsson U, Bjornsdottir H, Adalsteinsdottir AE, Kristjansson K, Hardarson T, Kristinsson A, Topol EJ, Gulcher J, Kong A, Gurney M, Thorgeirsson G, Stefansson K.. A randomized, placebo-controlled, crossover trial of an inhibitor of the 5-lipoxygenase activating protein (FLAP), DG-031, shows reduction in concentrations of biomarkers of risk of myocardial infarction in patients with coronary artery disease and at-risk variants of the FLAP and leukotriene A4 (LTA4) hydrolase genes.. JAMA. Vol 293. 2005:2245-56.
    • Hakonarson H, Bjornsdottir US, Halapi E, Bradfield J, Zink F, Helgadottir H, Bjarkarson I, Arnason T, Thorarinsson F, Gudmundsdottir AS, Ingvarsson S, Amundadottir L, Andresdottir M, Adalsteinsdottir EA, Gislason D, Gislason T, Gurney M, Gulcher J, Stefansson K.. Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients.. PNAS. Vol 102(41) . 2005:14789-14794.
    • Halapi E, Hakonarson H.. Application of Pharmacogenomic Approaches In The Study of Drug Response in Complex Diseases.. Current Pharmacogenomics. Vol 3. 2005:87-95.
    • Thakkinstian A, McEvoy M, Minelli C, Gibson P, Hancox B, Duffy D, Thompson J, Hall I, Kaufman J, Leung TF, Helms PJ, Hakonarson H, Halapi E, Navon R, Attia J.. Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review.. Am J Epidemiol. Vol 162. 2005:201-11.
    • Hakonarson H.. Leukotriene B4 (LTB4)-a risk factor of heart attacks?. International Atherosclerosis Society. 2006.
    • Hakonarson H.. Role of FLAP and PDE4D in Myocardial Infarction and Stroke: Target Discovery and Future Treatment Options.. Curr Treat Options Cardiovasc Med. Vol 8. 2006:183-92.
    • Smith HS, Bjerregaard P, Chan HM, Corriveau A, Ebbesson SO, Etzel RA, Fabsitz RR, Hadonarson H, Hild C, Nobmann ED, Reading J, Tereshchenko L, Young TK, Howard BV.. Research with Arctic peoples: unique research opportunities in heart, lung, blood and sleep disorders. Working groupo summary and recommendations.. Int J Circumpolar Health. Vol 65. 2006:79-90.
    • Arnar DO, Thorvaldsson S, Manolio T, Thorgeirsson G, Hakonarson H, Stefansson K.. Familial aggregation of atrial fibrillation in Iceland.. Eur Heart J. Vol 27. 2006:708-12.
    • 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, Gudnason V, Quyyumi AA, Topol EJ, Rader DJ, Thorgeirsson G, Gulcher JR, Hakonarson H, Kong A, Stefansson K.. A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction.. Nat Genet. Vol 38. 2006:68-74.
    • Halapi E, Hakonarson H.. Introduction to genetics.. In: Genetics of Asthma and COPD. Taylor & Francis Group LLC; 2006 (In Press).
    • Hakonarson H, Halapi E.. Identification of Treatment Response Genes.. In: Pharmacogenomics. 2007.
    • Devoto M, 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, Grant SFA, Hakonarson H.. Association of variants of the IL23R and ATG16L1 genes with susceptibility to pediatric Crohn's disease.. Poster presentation, ESHG, Nice, France, 2007. 2007.
    • Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Capasso M, Skraban R, Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos DS, Devoto M, Qu HQ, Polychronakos C.. A pediatric genome-wide association study identifies a novel Type 1 diabetes gene.. Poster presentation at the 9th International Meeting on Human Genome Variation and Complex Genome Analysis, Barcelona, Spain, 2007. 2007.
    • Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SFA, Kim J, Hakonarson H, Bucan M.. High resolution copy number variation detection: application of an integrated hidden Markov Model on whole-genome SNP genotyping data.. Genome Research (In review). 2007.
    • 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.. Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease.. Gut. Vol 56. 2007:1165-1176.
    • 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, Polychronakos C.. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.. Nature. 2007 Jul.
    • Wang Kai, Li Mingyao, Hadley Dexter, Liu Rui, Glessner Joseph, Grant Struan F A, Hakonarson Hakon, Bucan Maja. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.. Genome research. Vol 17(11) . 2007 Nov:1665-74.
    • Baldassano Robert N, Bradfield Jonathan P, Monos Dimitri S, Kim Cecilia E, Glessner Joseph T, Casalunovo Tracy, Frackelton Edward C, Otieno F George, Kanterakis Stathis, Shaner Julie L, Smith Ryan M, Eckert Andrew W, Robinson Luke J, Onyiah Chioma C, Abrams Debra J, Chiavacci Rosetta M, Skraban Robert, Devoto Marcella, Grant Struan F A, Hakonarson Hakon. Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease.. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association. Vol 5(8) . 2007 Aug:972-6.
    • Jackson Eric M, Shaikh Tamim H, Zhang Fan, Wainwright Luanne M, Storm Phillip B, Hakonarson Hakon, Zackai Elaine H, Biegel Jaclyn A. Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.. American journal of medical genetics. Part A. Vol 143A(15) . 2007 Aug:1767-70.
    • Grant S, Hakonarson H.. Recent development in pharmacogenomics: from candidate genes to genome-wide association studies.. Expert Rev Mol Diagn. Vol 7:4(4) . 2007 (In Press) Jul:2-23.
    • Grant S.F.A., R.N. Baldassano and H. Hakonarson. Classification of genetic profiles of Crohn's disease: A focus on the ATG16L1 gene. Expert Rev Mol Diagn. Vol 8(2) . 2008.
    • Grant SF, Hakonarson H.. Microarray Technology and Applications in the Arena of Genome-Wide Association.. Clin Chem. 2008 May.
    • Wang Kai, Chen Zhen, Tadesse Mahlet G, Glessner Joseph, Grant Struan F A, Hakonarson Hakon, Bucan Maja, Li Mingyao. Modeling genetic inheritance of copy number variations.. Nucleic acids research. Vol 36(21) . 2008 Dec:e138.
    • Diskin Sharon J, Li Mingyao, Hou Cuiping, Yang Shuzhang, Glessner Joseph, Hakonarson Hakon, Bucan Maja, Maris John M, Wang Kai. Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.. Nucleic acids research. Vol 36(19) . 2008 Nov:e126.
    • Sleiman Patrick M A, Annaiah Kiran, Imielinski Marcin, Bradfield Jonathan P, Kim Cecilia E, Frackelton Edward C, Glessner Joseph T, Eckert Andrew W, Otieno F George, Santa Erin, Thomas Kelly, Smith Ryan M, Glaberson Wendy, Garris Maria, Gunnlaugsson Sigfus, Chiavacci Rosetta M, Allen Julian, Spergel Jonathan, Grundmeier Robert, Grunstein Michael M, Magnusson Mark, Bisgaard Hans, Grant Struan F A, Hakonarson Hakon. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.. The Journal of allergy and clinical immunology. Vol 122(6) . 2008 Dec:1225-7.
    • Kugathasan Subra, Baldassano Robert N, Bradfield Jonathan P, Sleiman Patrick M A, Imielinski Marcin, Guthery Stephen L, Cucchiara Salvatore, Kim Cecilia E, Frackelton Edward C, Annaiah Kiran, Glessner Joseph T, Santa Erin, Willson Tara, Eckert Andrew W, Bonkowski Erin, Shaner Julie L, Smith Ryan M, Otieno F George, Peterson Nicholas, Abrams Debra J, Chiavacci Rosetta M, Grundmeier Robert, Mamula Petar, Tomer Gitit, Piccoli David A, Monos Dimitri S, Annese Vito, Denson Lee A, Grant Struan F A, Hakonarson Hakon. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.. Nature genetics. Vol 40(10) . 2008 Oct:1211-5.
    • Mossé Yaël P, Laudenslager Marci, Longo Luca, Cole Kristina A, Wood Andrew, Attiyeh Edward F, Laquaglia Michael J, Sennett Rachel, Lynch Jill E, Perri Patrizia, Laureys Geneviève, Speleman Frank, Kim Cecilia, Hou Cuiping, Hakonarson Hakon, Torkamani Ali, Schork Nicholas J, Brodeur Garrett M, Tonini Gian P, Rappaport Eric, Devoto Marcella, Maris John M. Identification of ALK as a major familial neuroblastoma predisposition gene.. Nature. Vol 455(7215) . 2008 Oct:930-5.
    • Sindhi Rakesh, Higgs Brandon W, Weeks Daniel E, Ashokkumar Chethan, Jaffe Ronald, Kim Cecilia, Wilson Patrick, Chien Nydia, Glessner Joseph, Talukdar Anjan, Mazariegos George, Barmada M Michael, Frackleton Edward, Petro Nancy, Eckert Andrew, Hakonarson Hakon, Ferrell Robert. Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection.. Gastroenterology. Vol 135(3) . 2008 Sep:830-9, 839.e1-10.
    • Behrens Edward M, Finkel Terri H, Bradfield Jonathan P, Kim Cecilia E, Linton LaKenya, Casalunovo Tracy, Frackelton Edward C, Santa Erin, Otieno F George, Glessner Joseph T, Chiavacci Rosetta M, Grant Struan F A, Hakonarson Hakon. Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.. Arthritis and rheumatism. Vol 58(7) . 2008 Jul:2206-7.
    • Deardorff Matthew A, Gaddipati Himabindu, Kaplan Paige, Sanchez-Lara Pedro A, Sondheimer Neal, Spinner Nancy B, Hakonarson Hakon, Ficicioglu Can, Ganesh Jaya, Markello Thomas, Loechelt Brett, Zand Dina J, Yudkoff Marc, Lichter-Konecki Uta. 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.. Molecular genetics and metabolism. Vol 94(4) . 2008 Aug:498-502.
    • Grant Struan F A, Hakonarson Hakon. Microarray technology and applications in the arena of genome-wide association.. Clinical chemistry. Vol 54(7) . 2008 Jul:1116-24.
    • Maris John M, Mosse Yael P, Bradfield Jonathan P, Hou Cuiping, Monni Stefano, Scott Richard H, Asgharzadeh Shahab, Attiyeh Edward F, Diskin Sharon J, Laudenslager Marci, Winter Cynthia, Cole Kristina A, Glessner Joseph T, Kim Cecilia, Frackelton Edward C, Casalunovo Tracy, Eckert Andrew W, Capasso Mario, Rappaport Eric F, McConville Carmel, London Wendy B, Seeger Robert C, Rahman Nazneen, Devoto Marcella, Grant Struan F A, Li Hongzhe, Hakonarson Hakon. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.. The New England journal of medicine. Vol 358(24) . 2008 Jun:2585-93.
    • Qu Hui-Qi, Grant Struan F A, Bradfield Jonathan P, Kim Cecilia, Frackelton Edward, Hakonarson Hakon, Polychronakos Constantin. Association analysis of type 2 diabetes Loci in type 1 diabetes.. Diabetes. Vol 57(7) . 2008 Jul:1983-6.
    • Grant Struan F A, Baldassano Robert N, Hakonarson Hakon. Classification of genetic profiles of Crohn's disease: a focus on the ATG16L1 gene.. Expert review of molecular diagnostics. Vol 8(2) . 2008 Mar:199-207.
    • Grant Struan F A, Li Mingyao, Bradfield Jonathan P, Kim Cecilia E, Annaiah Kiran, Santa Erin, Glessner Joseph T, Casalunovo Tracy, Frackelton Edward C, Otieno F George, Shaner Julie L, Smith Ryan M, Imielinski Marcin, Eckert Andrew W, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon. Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP.. PloS one. Vol 3(3) . 2008:e1746.
    • Hakonarson Hakon, Qu Hui-Qi, Bradfield Jonathan P, Marchand Luc, Kim Cecilia E, Glessner Joseph T, Grabs Rosemarie, Casalunovo Tracy, Taback Shayne P, Frackelton Edward C, Eckert Andrew W, Annaiah Kiran, Lawson Margaret L, Otieno F George, Santa Erin, Shaner Julie L, Smith Ryan M, Onyiah Chioma C, Skraban Robert, Chiavacci Rosetta M, Robinson Luke J, Stanley Charles A, Kirsch Susan E, Devoto Marcella, Monos Dimitri S, Grant Struan F A, Polychronakos Constantin. A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.. Diabetes. Vol 57(4) . 2008 Apr:1143-6.
    • Sievert, A.J., Jackson, E.M., Gai, X., Hakonarson, H., Judkins, A.R., Resnick, A.C., Shaikh,T.H.,Biegel, J.A.. Duplication of 7q34 in pediatric low grade astrocytomas detected by high density SNP based genotyping.. Poster Presentation, ISPNO 2008.. 2008.
    • Conlin LK, Thiel BD, Medne L, Campbell L, Glessner J, Bonnemann C, Krantz ID,Hakonarson H, Spinner NB.. SNP Arrays Open a Window on Complex Mosaicism.. Selected for presentation, American Cytogenetics Conference, Monterey, California April 8-11. 2008. 2008.
    • Yaël P Mosse, Luca Longo, Marci Laudenslager, Patrizia Perri, Gian Paolo Tonini, Carmel M McConville, Nadine Van Roy, Frank Speleman, Cuiping Hou, Cecilia Kim, Hakon Hakonarson, Garrett M Brodeur, Eric Rappaport, Marcella Devoto, John M Maris.. A Genome-wide Linkage Screen Identifies a Hereditary Neuroblastoma Predisposition Locus at Chromosome 2p24-23.. Poster Presentation ANR, 2008.. 2008.
    • Yaël P Mosse, Marci Laudenslager, Luca Longo, Patrizia Perri, Gian Paolo Tonini, Rani George, Megan Hanna, Heidi Greulich, Matthew Meyerson, A. Thomas Look, Carmel M McConville, Genevieve Laureys, Frank Speleman, Cuiping Hou, Cecilia Kim, Hakon Hakonarson, Garrett M Brodeur, Eric Rappaport, Marcella Devoto, John M Maris.. Identification of ALK as the Major Familial Neuroblastoma Predisposition Gene.. Oral Presentation AACR (late breaking abstract), 2008. 2008.
    • Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF,Diskin SJ, Laudenslager M, Winter C, Cole K, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SFA, Li H, Hakonarson H. A genome-wide association study identifies a susceptibility locus to clinically aggressive neuroblastoma at 6p22 (2008).. Presentation. 2008.
    • Ginwala N, M. Li, M. S. Burnett, N. Mehta, A. Qasim, S. Restine, L. Pruscino, M. Wolfe, H. Chandrupatla, L. Satler, A. Pichard, R. Waksman, Z. Chen, J. He, J. Devaney, B. Keating, H. Hakonarson, S. E. Epstein, D. Rader, M. P. Reilly.. Inflammatory Gene Associations with Acute v. Chronic Coronary Artery Disease (CAD).. Poster Presentation. ASHG, Philadelphia, Nov, 2008. 2008.
    • Paluru P, J. Garbarini, X. Gai, J. Glessner, J. Biegel, H. Hakonarson, P. S. White, T. Shaikh, E. Goldmuntz. Copy Number Analysis in Patients with Congenital Heart Disease and Multiple Congenital Anomalies.. Poster Presentation. ASHG, Philadelphia, Nov, 2008.. 2008.
    • Bisgaard H, P. M. A. Sleiman, K. Bonnelykke, M. Brasholt, B. Chaves, E. Kreiner-Moller, M. Stage, C. E. Kim, S. F. A. Grant, R. Tavendale, C. B. Piper, C. N. A. Palmer, H. Hakonarson.. Polymorphism associated with ORMDL3 expression Defines Non-Atopic Early Childhood Asthma.. Poster Presentation. ASHG, Philadelphia, Nov, 2008.. 2008.
    • Baldassano RN, S. Kugathasan, J. P. Bradfield, P. M. A. Sleiman, M. Imielinski, S. L. Guthery, S. Cucchiara, T. Willson, E. Bonkowski, N. Peterson, D. J. Abrams, R. Grundmeier, P. Mamula, G. Tomer, D. A. Piccoli, D. S. Monos, V. Annese, L. A. Denson, S. F. A. Grant, H. Hakonarson.. A Genome Wide Association Study Identifies Novel Inflammatory Bowel Disease Susceptibility Loci on 20q13 and 21q22 in Patients with Pediatric Onset IBD.. Poster Presentation. ASHG, Philadelphia, Nov, 2008.. 2008.
    • Conlin LK, B. D. Thiel, S. A. Hosain, P. S. Munoz, J. T. Glessner, H. Hakonarson, I. D. Krantz, N. B. Spinner.. Mechanistic insights into ring chromosome formation using SNP arrays.. Poster Presentation. ASHG, Philadelphia, Nov, 2008.. 2008.
    • Lantieri F, T. Takeda, R. Deberardinis, J. Accardo, P. J. Ambrosini, N. J. Blum, L. W. Brown, W. Berrettini, J. Glessner, C. Kim, M. Devoto, H. Hakonarson, J. Elia.. Association analysis of SNPs located in regions linked to enuresis in children with ADHD and enuresis.. Poster Presentation. ASHG, Philadelphia, Nov, 2008.. 2008.
    • Reilly MP, M. Li, MS. Burnett, A. Qasim, NN. Mehta, S. Restine, M. Wolfe, A. Edmondson, I. Stylianou, J. Devaney, B. Keating, T. Cappola, H. Hakonarson, Z. Chen, C. Knouff, V. Mooser, SE. Epstein, DJ. Rader,. Genome Wide Association Studies of Angiographic Coronary Artery Disease.. WTCCC, MI-GEN Consortium, Ottawa Heart Study, ADVANCE, Intermountain Heart Study, Emory CV Gene Bank. Poster Presentation. ASHG, Philadelphia, Nov, 2008.. 2008.
    • Annaiah K, P. M. A. Sleiman, M. Imielinski, J. P. Bradfield, C. E. Kim, E. C. Frackelton, J. T. Glessner, F. G. Otieno, E. Santa, W. Glaberson, M. Garris, R. Chiavacci, J. Allen, J. Spergel, R. Grundmeier, M. M. Grunstein, M. Magnusson, H. Bisgaard, S. F. A. Grant, H. Hakonarson.. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.. Poster Presentation. ASHG, Philadelphia, Nov, 2008.. 2008.
    • Clark D, M. Berman, L. Conlin, H. Rehm, M. Kaur, J. Glessner, H. Hakonarson, S. Grant, N. B. Spinner, I. D. Krantz.. Genome-Wide Copy Number Analysis in a Cohort 525 Probands with Non-Syndromic Bilateral Sensorineural Hearing Loss Using a Novel Analysis Software (PECONPI).. Poster Presentation. ASHG, Philadelphia, Nov, 2008. 2008.
    • Deardorff M, M. Kaur, M. Berman, L. Conlin, D. Clark, X. Gai, J. Perin, T. Shaikh, H. Hakonarson, L. Jackson, I. Krantz.. Genomewide copy number analysis in Cornelia de Lange Syndrome.. Poster Presentation. ASHG, Philadelphia, Nov, 2008.. 2008.
    • Mehta NN, M. Li, M. S. Burnett, N. T. Ginwala, A. Qasim, S. Restine, L. Pruscino, I. Stylianou, Z. Chen, J. He, M. L. Wolfe, J. Devaney, H. Chandrupatla, H. Hakonarson, B. Keating, J. Lindsay, R. Waksman, S. E. Epstein, D. J. Rader, M. P. Reilly.. The ITMAT/Broad/CARE (IBC) Candidate Gene Array Identifies Novel Type 2 Diabetes Gene Associations with Coronary Artery Disease: The GRAND-CAD Consortium.. Poster Presentation. ASHG Philadelphia 2008.. 2008.
    • Bradfield JP, M. Li, C. E. Kim, K. Annaiah, E. Santa, J. T. Glessner, E. C. Frackelton, F. G. Otieno, J. L. Shaner, R. M. Smith, A. W. Eckert, M. Imielinski, R. M. Chiavacci, R. L. Berkowitz, H. Hakonarson, S. F. A. Grant.. Correlation of HMGA2 gene variation with height in specific pediatric age categories.. Poster Presentation. ASHG Philadelphia 2008.. 2008.
    • Sullivan K, S. F. A. Grant, M. A. Petri, J. P. Bradfield, C. E. Kim, E. Santa, K. Annaiah, E. C. Frackelton, J. T. Glessner, F. G. Otieno, J. L. Shaner, R. M. Smith, A. W. Eckert, R. M. Chiavacci, M. Imielinski, H. Hakonarson.. Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.. Poster Presentation. ASHG Philadelphia 2008.. 2008.
    • White PS, X. Gai, T. H. Shaikh, J. C. Perin, J. T. Glessner, H. M. Xie, T. Casalunovo, M. D'arcy, E. C. Frackleton, C. E. Kim, K. Murphy, R. O'Hara, R. Grundmeier, M. Imielinski, S. Ostapenko, R. M. Chiavacci, E. F. Rappaport, S. F. A. Grant, H. Hakonarson.. High-Resolution Mapping and Analysis of Copy Number Variations in the Human Genome.. Poster Presentation. ASHG Philadelphia 2008.. 2008.
    • Gai X, J. C. Perin, H. Xie, J. T. Glessner, S. F. A. Grant, H. Hakonarson, E. F. Rappaport, T. H. Shaikh, P. S. White.. An integrated analysis workflow for high-throughput analysis of copy number variation for discovery and clinical diagnostics.. Poster Presentation. ASHG Philadelphia 2008.. 2008.
    • Wang K, B. Keating, J. Glessner, T. Cappola, M. Bucan, H. Hakonarson, D. Rader, M. Reilly, M. Li.. Comparative analysis of whole-genome genotyping arrays and candidate gene arrays for copy number variation detection.. Poster Presentation. ASHG Philadelphia 2008.. 2008.
    • Hakonarson H, J. T. Glessner, H. Q. Qu, K. Wang, J. P. Bradfield, C. E. Kim, L. Marchand, S. F. A. Grant, C. Polychronakos.. Genome Wide Association of Copy Number Variations (CNVs) in Type 1 Diabetes (T1D) Identifies Novel Genes in Previously Associated T1D Pathways.. Poster Presentation. ASHG Philadelphia. 2008.
    • Glessner JT, K. Wang, O. Krastoshevsky, J. P. Bradfield, C. E. Kim, S. Shin, N. R. Mendell, S. F. A. Grant, J. Sebat, D. L. Levy, H. Hakonarson.. Genome Wide Association of Copy Number Variations (CNVs) in Schizophrenia Identifies Novel Genes in Glutamate Receptor Networks.. Poster Presentation. ASHG Philadelphia 2008.. 2008.
    • Imielinski M, J. P. Bradfield, K. Annaiah, C. E. Kim, A. W. Eckert, J. T. Glessner, K. Thomas, G. Otieno, E. Santa, E. Frackleton, R. M. Chiavacci, S. F. A. Grant, H. Hakonarson.. GWAS identifies genes affecting quantitative variation of white blood cell count in African-American children on 1q23.. Poster Presentation. ASHG Philadelphia 2008.. 2008.
    • Thiel BD, L. K. Conlin, D. Dipatri, X. Gai, M. Xie, J. C. Perin, T. H. Shaikh, P. White, J. Glessner, C. Kim, L. M. Medne, C. Bonnemann, L. Campbell, D. Clark, I. D. Krantz, H. Hakonarson, N. B. Spinner.. SNP arrays in the cytogenomics lab: Telling us things we didn?t know.. Poster Presentation. ASHG Philadelphia 2008. 2008.
    • Grant SFA, H. Q. Qu, J. P. Bradfield, L. Marchand, M. Imielinski, C. E. Kim, J. T. Glessner, R. Grabs, S. P. Taback, E. C. Frackelton, K. Annaiah, M. L. Lawson, R. W. Grundmeier, C. A. Stanley, S. E. Kirsch, D. Waggott, A. D. Paterson, D. S. Monos, C. Polychronakos, H. Hakonarson.. Follow up analysis of genome-wide association data and replication identifies novel loci for type 1 diabetes.. Oral Presentation. ASHG Philadelphia 2008.. 2008.
    • Capasso M, M. Devoto, C. Hou, S. Asgharzadeh, E. Attiyeh, Y. Mosse, J. Bradfield, R. Scott, S. Diskin, J. Jagannathan, J. Glessner, C. Kim, W. London, R. Seeger, S. Grant, H. Li, N. Rahman, H. Hakonarson, J. Maris.. A GWAS identifies common variations in the BARD1 tumor suppressor gene predisposing to high-risk neuroblastoma.. Oral Presentation. ASHG Philadelphia 2008.. 2008.
    • Sleiman P, M. Imielinski, J. P. Bradfield, K. Annaiah, S. Willis-Owen, N. M. Rafael, S. Michel, C. E. Kim, R. Grundmeier, J. Allen, J. Spergel, J. Christie, M. Kabesch, M. F. Moffatt, M. M. Grunstein, K. C. Barnes, M. Magnusson, S. F. A. Grant, H. Bisgaard, H. Hakonarson.. Genome wide association identifies an asthma susceptibility locus on chromosome 1q31 in both Caucasian and African American children.. Oral Presentation. ASHG Philadelphia 2008.. 2008.
    • Bucan M, K. Wang, J. Glessner, M. Imielinski, D. Hadley, J. Bradfield, C. Kim, L. Sonnenblick, N. Gidaya, V. Kustanovich, A. Singelton, C. Lajonchere, J. Kim, M. Li, R. Cantor, B. Abrahams, S. Grant, D. Geschwind, H. Hakonarson.. Genomic Landscape of Autism Spectrum Disorders.. Oral Presentation. ASHG Philadelphia 2008.. 2008.
    • Keating Brendan J, Tischfield Sam, Murray Sarah S, Bhangale Tushar, Price Thomas S, Glessner Joseph T, Galver Luana, Barrett Jeffrey C, Grant Struan F A, Farlow Deborah N, Chandrupatla Hareesh R, Hansen Mark, Ajmal Saad, Papanicolaou George J, Guo Yiran, Li Mingyao, Derohannessian Stephanie, de Bakker Paul I W, Bailey Swneke D, Montpetit Alexandre, Edmondson Andrew C, Taylor Kent, Gai Xiaowu, Wang Susanna S, Fornage Myriam, Shaikh Tamim, Groop Leif, Boehnke Michael, Hall Alistair S, Hattersley Andrew T, Frackelton Edward, Patterson Nick, Chiang Charleston W K, Kim Cecelia E, Fabsitz Richard R, Ouwehand Willem, Price Alkes L, Munroe Patricia, Caulfield Mark, Drake Thomas, Boerwinkle Eric, Reich David, Whitehead A Stephen, Cappola Thomas P, Samani Nilesh J, Lusis A Jake, Schadt Eric, Wilson James G, Koenig Wolfgang, McCarthy Mark I, Kathiresan Sekar, Gabriel Stacey B, Hakonarson Hakon, Anand Sonia S, Reilly Muredach, Engert James C, Nickerson Deborah A, Rader Daniel J, Hirschhorn Joel N, Fitzgerald Garret A. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.. PloS one. Vol 3(10) . 2008:e3583.
    • Grant Struan F A, Qu Hui-Qi, Bradfield Jonathan P, Marchand Luc, Kim Cecilia E, Glessner Joseph T, Grabs Rosemarie, Taback Shayne P, Frackelton Edward C, Eckert Andrew W, Annaiah Kiran, Lawson Margaret L, Otieno F George, Santa Erin, Shaner Julie L, Smith Ryan M, Skraban Robert, Imielinski Marcin, Chiavacci Rosetta M, Grundmeier Robert W, Stanley Charles A, Kirsch Susan E, Waggott Daryl, Paterson Andrew D, Monos Dimitri S, Polychronakos Constantin, Hakonarson Hakon. Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.. Diabetes. Vol 58(1) . 2009 Jan:290-5.
    • Grant S & Hakonarson H.. Genetics and Proteomics of Asthma. In Asthma Genetics. 2009.
    • Glessner JT, Hakonarson H.. Common variants in polygenic schizophrenia.. Genome Biol. Vol 10(9) . 2009 Sep:236.
    • W. D. Li1, G. M. Yuan1, S. F. A. Grant2, H. Hakonarson2, R. A. Price1. SPAG16 Gene Variants are Associated with Fasting Glucose and Insulin Sensitivity.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • H. Q. Qu1, Q. Li1, J. T. Glessner2, K. Wang2, S. F. A. Grant2, H. Hakonarson2, C. Polychronakos1. The Genetic Association of Copy Number Variation and Type 1 Diabetes.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • J. Gerfen1, L. K. Conlin1, B. Kamath1, B. Thiel2, L. Ernst1, H. Hakonarson3, N. B. Spinner1,2. Array based genomic analysis reveals hidden complexity of chromosome aberrations.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • M. Crowley1, L. Conlin1, M. Berman1, B. Thiel2, C. Haldeman-Englert1, D. Clark1, L. Ernst2, J. Ganesh1, C. Ficicioglu1, X. Gai3, H. Hakonarson4, I. Krantz1, N. Spinner1,2. Diagnosis of recessive disorders using a genome-wide SNP microarray.. Poster presentation. ASHG Hawaii 2009. 2009.
    • M. Deardorff1, E. Loy1, M. Kaur1, M. Berman1, L. Conlin1, X. Gai2, J. Perin2, T. Shaikh1, H. Hakonarson3, L. Jackson4, I. Krantz1. Pursuit of additional ?Cohesinopathy? loci involved in human developmental disorders.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • S. H. Wong1, S. Gochhait2, D. Malhotra2, Y. Y. Teo1, A. Rautanen1, C. C. Khor3, S. J. Chapman1, A. Srivastava2, S. Ali2, S. Aggarwal2, R. Chopra2, B. S. N. Reddy4, V. K. Garg4, S. K. Hazra5, B. Saha5, C. Kim6, H. Hakonarson6, R. N. K. Bamezai2, A. V. S. Hill1, F. O. Vannberg1. Loss of TLR1 function is under selection and protects against leprosy.. Poster presentation. ASHG Hawaii 2009. 2009.
    • Zhao1, J. P. Bradfield2, H. Zhang2, K. Annaiah2, K. Wang2, C. E. Kim2, J. T. Glessner2, E. C. Frackelton2, F. G. Otieno2, K. A. Thomas2, M. Garris2, R. M. Chiavacci2, M. Li3, R. I. Berkowitz4,5, H. Hakonarson1,2,6, S. F. A. Grant1,2,6. Examination of all type 2 diabetes GWAS loci reveals HHEX as a locus influencing pediatric BMI.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • J. P. Bradfield1, H. Q. Qu2, K. Wang1, H. Zhang1, P. M. Sleiman1, C. E. Kim1, K. Annaiah1, J. T. Glessner1, K. Thomas1, E. C. Frackelton1, R. Chiavacci1, M. Imielinski1, D. S. Monos3,4, S. F. A. Grant1,3,5, C. Polychronakos2, H. Hakonarson1,3,5. Meta-analysis of six large type 1 diabetes cohorts identifies multiple loci.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • S. F. A. Grant1,2,3, J. P. Bradfield1, J. Zhao2, H. Zhang1, K. Annaiah1, C. E. Kim1, J. T. Glessner1, E. C. Frackelton1, F. G. Otieno1, K. A. Thomas1, M. Garris1, R. M. Chiavacci1, K. Wang1, M. Li4, R. I. Berkowitz5,6, H. Hakonarson1,2,3. Interim analysis from a genome-wide association study of childhood obesity identifies FTO as strongly associated with the trait.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • L. K. Conlin1, M. Kaur1, D. Clark1, E. Zackai1, M. A. Deardorff1, H. Hakonarson1,2, N. B. Spinner1,3, I. D. Krantz1. Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from Pallister-Killian patients.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • J. H. Flory1, R. Chiavacci1, K. Annaiah1, W. Glaberson1, H. Zhang1, K. Wang1, C. Kim1, R. Grundmeier2, S. Ostapenko2, A. Thomas1, K. Harden1, A. Hill1, S. Wildrick1, C. Johnson-Honesty1, K. Fain1, S. Harrison1, C. Drummond1, D. E. Surrey1, S. F. Grant1, H. Hakonarson1. Genome-wide genotyping linked to electronic medical records: demographics, ancestry, and other factors influencing consent in a large pediatric cohort.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • Z. Wei1, W. Sun2, K. Wang3, H. Hakonarson3,4. A HMM-based optimal Multiple Testing procedure for GWAS.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • P. M. A. Sleiman1, V. M. Van Deerlin2,3, M. Martinez-Lage2, A. Chen-Plotkin2,4, L. S. Wang2, G. Schellenberg2,3, H. Hakonarson1,5, J. Q. Trojanowski2,3, V. M. Y. Lee2,3. Association of common variants at 7p21 with Frontotemporal Dementia with TDP-43 Inclusions.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • L. Wang1,4, D. Hranilovic7, K. Wang6, L. Yurcaba5, Z. Petkovic8, N. Gidaya2, B. Jernej9, H. Hakonarson3,6, M. Bucan2,4. Genome-wide patterns of genetic variation in individuals with autism spectrum disorders from Croatia.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • H. Zhang1, K. Wang1, Z. Wei2, H. Qu3, J. Bradfield1, C. Kim1, E. Frackleton1, C. Hou1, J. T. Glessner1, R. Chiavacci1, C. Stanley4, D. Monos5, S. F. Grant1,6, C. Polychronakos3, H. Hakonarson1,6. From association to disease risk prediction: an optimistic view from genome-wide association studies on type 1 diabetes.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • S. J. Diskin1, C. Hou1,2, M. Laudenslager1, M. Diamond1, K. Bosse1, M. Li3, P. A. Kanetsky3, K. Wang2, J. Glessner2, H. Zhang2, C. Kim2, A. I. F. Blakemore4, M. Devoto5,6, H. Li3, E. F. Attiyeh1,6, E. R. Rappaport1,6, K. L. Nathanson7,8, H. Hakonarson2,5, J. M. Maris1,6,8. Copy number variation within NME7 associated with neuroblastoma.. Platform presentation. ASHG Hawaii 2009.. 2009.
    • K. Wang1, H. Zhang1, H. Cui1, S. J. Diskin2, C. Winter2, C. Bosse2, J. T. Glessner1, C. Kim1, L. Nguyen3, M. Diamond2, S. F. Grant1,4, Y. Mosse2, S. Hannenhalli5, H. Li3, M. Devoto3,4, W. London6, M. Capasso7, N. Rahman8, H. Hakonarson1,4, J. M. Maris2. Integrative genomics identifies LMO1 as a neuroblastoma predisposition gene.. Platform presentation. ASHG Hawaii 2009.. 2009.
    • N. B. Spinner1,2, L. K. Conlin1, B. D. Thiel2, P. S. Munoz1, W. Kramer1, J. T. Glessner3, H. Hakonarson1,3, S. A. Hosain4. Molecular Analysis and Clinical Correlations in Ring Chromosome 20 Syndrome.. Platform presentation. ASHG Hawaii 2009.. 2009.
    • H. Hakonarson1,2, J. T. Glessner1, K. Wang1, X. Gai3, N. Takahashi4, P. M. A. Sleiman1, J. H. Flory1, H. Zhang1, C. E. Kim1, J. P. Bradfield1, M. Imielinski1, C. Rabin5, P. Shaw5, T. H. Shaikh6,7, S. F. A. Grant1,6,7, J. D. Buxbaum4, J. L. Rapoport5, M. Devoto6,7,8,9, P. S. White3,7,10, J. Elia11,12. Genome Wide Copy Number Variation Study Associates Metabotropic Glutamate Receptor Genes with Attention Deficit Hyperactivity Disorder.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • J.T. Glessner1, K. Wang1, C. E. Kim1, C. Hou1, J. P. Bradfield1, H. Zhang1, P. M. A. Sleiman1, M. Imielinski1, E. C. Frackelton1, R. Chiavacci1, K. Annaiah1, K. Thomas1, F. G. Otieno1, J. Doran1, M. Garris1, J. H. Flory1, S. F. A. Grant1, R. E. Gur2, H. Hakonarson1,3. Neuronal Calcium Ras Signaling in Schizophrenia Impacted by Copy Number Variation.. Poster presentation. ASHG Hawaii 2009.. 2009.
    • X. Gai1, J. Elia2,3, H. Xie1, J. C. Perin1, E. Geiger4, J. T. Glessner5, M. D'arcy1, R. deBerardinis2, E. Frackleton5, C. Kim5, F. Lantieri4, B. M. Muganga1, L. Wang1, T. Takeda2, E. F. Rappaport6, W. Berrettini3, M. Devoto4,7,8,9, T. H. Shaikh4,7, H. Hakonarson5,7,10, P. S. White1,7,11. Rare Structural Variants found in Attention-Deficit Hyperactivity Disorder are Preferentially Associated with Neurodevelopmental Genes.. Platform presentation. ASHG Hawaii 2009.. 2009.
    • M. Imielinski1, R. N. Baldassano2, A. Griffiths3, R. K. Russell4, V. Annese5, M. Dubinsky6, S. Kugathasan7, J. Bradfield1, T. Walters3, P. Sleiman1, C. Kim1, J. Van Limbergen11, S. L. Guthery12, L. Denson1, D. C. Wilson8, S. F. A. Grant1,2, M. Daly9, M. Silverberg10, J. Satsangi11, H. Hakonarson1,2. Novel Risk Variants in a Genome Wide Scan of Pediatric Onset Inflammatory Bowel Disease.. Platform presentation. ASHG Hawaii 2009.. 2009.
    • K. Annaiah1, J. Spergel1, J. Sherrill2, L. Martin2, C. Blanchard2, R. Chiavacci1, C. Kim1, J. Flory1, W. Glaberson1, A. Thomas1, P. Sleiman1, M. Rothenberg2, H. Hakonarson1. Common variants in the TSLP/WDR36 region are associated with Eosinophilic Esophagitis.. Platform presentation. ASHG Hawaii 2009.. 2009.
    • S. S. Murray1, M. Shaw1, S. Topol1, P. C. Ng2, N. J. Schork1, K. Wang3, H. Hakonarson3,4, S. R. Cummings5, E. S. Orwoll6, E. J. Topol1. Identifying the Genetic Underpinnings Associated With Healthspan.. Platform presentation. ASHG Hawaii 2009.. 2009.
    • B. Glaser, K. Wang, J. Glessner, J.Golding, C. Steer, S.F.A. Grant, H.Hakonarson, G. Davey Smith:. Association between a high-risk autism locus and autism-spectrum disorder-related phenotypes in the Avon Longitudinal Study of Parents and Children (ALSPAC).. XVII World Congress on Psychiatric Genetics, San Diego, USA 2009. 2009.
    • H. Hakonarson, J.T. Glessner, K. Wang, X. Gai, N. Takahashi, P.M.A. Sleiman, J.H. Flory, H. Zhang, C.E. Kim, J.P. Bradfield, M. Imielinski, C. Rabin, P. Shaw, T.H. Shaikh, S.F.A. Grant, J.D. Buxbaum, J.L. Rapoport, M. Devoto, P.S. White and J. Elia:. Genome Wide Copy Number Variation Study Associates Metabotropic Glutamate Receptor Genes with Attention Deficit Hyperactivity Disorder.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Poster.. 2009.
    • H. Zhang, K. Wang, Z. Wei, H. Qu, J. Bradfield, C. Kim, E. Frackleton, C. Hou, J. T. Glessner, R. Chiavacci, C. Stanley, D. Monos, S.F.A. Grant, C. Polychronakos and H. Hakonarson:. From association to disease risk prediction: an optimistic view from genome-wide association studies on type 1 diabetes.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Poster.. 2009.
    • H.Q. Qu, Q. Li, J.T. Glessner, K. Wang, S.F.A. Grant, H. Hakonarson and C. Polychronakos:. The Genetic Association of Copy Number Variation and Type 1 Diabetes.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Poster.. 2009.
    • Zhao, J.P. Bradfield, H. Zhang, K. Annaiah, K. Wang, C.E. Kim, J.T. Glessner, E.C. Frackelton, F.G. Otieno, J. Doran, K.A. Thomas, C. Hou, M. Garris, R.M. Chiavacci, M. Li, R.I. Berkowitz, H. Hakonarson, and S.F.A. Grant:. Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.. NIDDK Mid-Atlantic Diabetes Research Symposium, Bethesda, USA 2009 Notes: Poster.. 2009.
    • J. Zhao, J.P. Bradfield, H. Zhang, K. Annaiah, K. Wang, C.E. Kim, J.T. Glessner, E.C. Frackelton, F.G. Otieno, J. Doran, K.A. Thomas, C. Hou, M. Garris, R.M. Chiavacci, M. Li, R.I. Berkowitz, H. Hakonarson, and S.F.A. Grant. Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.. CHOP PostDoc Day 2009 Notes: Poster.. 2009.
    • J. Zhao, J.P. Bradfield, H. Zhang, K. Annaiah, K. Wang, C.E. Kim, J.T. Glessner, E.C. Frackelton, F.G. Otieno, K.A. Thomas, M. Garris, R.M. Chiavacci, M. Li, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant:. Examination of all type 2 diabetes GWAS loci reveals HHEX as a locus influencing pediatric BMI.. 8th UPenn Biomedical PostDoc Research Symposium 2009 Notes: Poster.. 2009.
    • J. Zhao, J.P. Bradfield, H. Zhang, K. Annaiah, K. Wang, C.E. Kim, J.T. Glessner, E.C. Frackelton, F.G. Otieno, K.A. Thomas, M. Garris, R.M. Chiavacci, M. Li, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant. Examination of all type 2 diabetes GWAS loci reveals HHEX as a locus influencing pediatric BMI.. NIDDK Mid-Atlantic Diabetes Research Symposium, Bethesda, USA 2009.. 2009.
    • J. Zhao, J.P. Bradfield, H. Zhang, K. Annaiah, K. Wang, C.E. Kim, J.T. Glessner, E.C. Frackelton, F.G. Otieno, K.A. Thomas, M. Garris, R.M. Chiavacci, M. Li, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant :. Examination of all type 2 diabetes GWAS loci reveals HHEX as a locus influencing pediatric BMI.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Poster.. 2009.
    • J. Zhao, J.P. Bradfield, M. Li, K. Wang, H. Zhang, C.E. Kim, K. Annaiah, J.T. Glessner, K. Thomas, E.C. Frackelton, F.G. Otieno, R.M. Chiavacci, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant:. The role of obesity-associated loci identified in genome wide association studies in the determination of pediatric BMI.. UPenn Institute for Diabetes, Obesity and Metabolism Spring Symposium, Philadelphia, USA. Poster, 2009.. 2009.
    • J. Zhao, J.P. Bradfield, M. Li, K. Wang, H. Zhang, C.E. Kim, K. Annaiah, J.T. Glessner, K. Thomas, E.C. Frackelton, F.G. Otieno, R.M. Chiavacci, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant:. The role of obesity-associated loci identified in genome wide association studies in the determination of pediatric BMI.. Obesity Society, Washington DC, USA 2009 Notes: Poster.. 2009.
    • J. Zhao, M. Li, J.P. Bradfield, K. Wang, H. Zhang, P. Sleiman, C.E. Kim, K. Annaiah, W. Glaberson, J.T. Glessner, C. Hou, R.M. Chiavacci, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant:. Examination of all established type 2 diabetes loci reveals CDKAL1 as a birth weight gene.. Obesity Society, Washington DC, USA 2009 Notes: Poster.. 2009.
    • J.H. Flory, R. Chiavacci, K. Annaiah, W. Glaberson, H. Zhang, K. Wang, C. Kim, R. Grundmeier, S. Ostapenko , A. Thomas, K. Harden, A. Hill, S. Wildrick, C. Johnson-Honesty, K. Fain, S. Harrison, C. Drummond, D.E. Surrey, S.F.A. Grant and H Hakonarson:. Genome-wide genotyping linked to electronic medical records: demographics, ancestry, and other factors influencing consent in a large pediatric cohort.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Poster.. 2009.
    • J.P. Bradfield, H.Q. Qu, K. Wang, H. Zhang, P.M. Sleiman, C.E. Kim, K. Annaiah, J.T. Glessner, K. Thomas, E.C. Frackelton, R. Chiavacci, M. Imielinski, D.S. Monos, S.F.A. Grant, C. Polychronakos and H. Hakonarson:. Meta-analysis of six large type 1 diabetes genome wide association studies identifies multiple loci.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Poster.. 2009.
    • J.T. Glessner, H.Q. Qu, K. Wang, J.P. Bradfield, C.E. Kim, L. Marchand, S.F.A. Grant, C. Polychronakos and H. Hakonarson:. Genome Wide Association of Copy Number Variations (CNVs) in Type 1 Diabetes (T1D) Identifies Novel Genes in Previously Associated T1D Pathways.. Children's Hospital of Philadelphia Poster Day, Philadelphia, USA. Poster, 2009.. 2009.
    • J.T. Glessner, J.P. Bradfield, C.E. Kim, K. Annaiah, R.M. Chiavacci, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant. INSIG2 is exclusively impacted by copy number variation in childhood obesity.. Obesity Society, Washington DC, USA 2009 Notes: Poster.. 2009.
    • J.T. Glessner, J.P. Bradfield, C.E. Kim, K. Annaiah, R.M. Chiavacci, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant:. INSIG2 is exclusively impacted by copy number variation in childhood obesity.. Children's Hospital of Philadelphia Poster Day, Philadelphia, USA 2009 Notes: Poster.. 2009.
    • J.T. Glessner, K. Wang, C.E. Kim, C. Hou, J.P. Bradfield, H. Zhang, P.M.A. Sleiman, M. Imielinski, E.C. Frackelton, R. Chiavacci, K. Annaiah, K. Thomas, F.G. Otieno, J. Doran, M. Garris, J.H. Flory, S.F.A. Grant, R.E. Gur and H. Hakonarson. Neuronal Calcium Ras Signaling in Schizophrenia Impacted by Copy Number Variation.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Poster.. 2009.
    • K. Wang, H. Zhang, D.Q. Ma, M. Bucan, J.T. Glessner, B.S. Abrahams, D. Salyakina, M. Imielinski, J.P. Bradfield, P.M.A. Sleiman, C.E. Kim, R. Chiavacci, C.M. Lajonchere, J. Munson, A. Estes, O. Korvatska, J. Piven, L.I. Sonnenblick, A.I. Alvarez Retuerto, E.I. Herman, H. Dong, T. Hutman, M. Sigman, S. Ozonoff, A. Klin, T. Owley, J.A. Sweeney, C.W. Brune, R. Cantor, R. Bernier, J.R. Gilbert, M.L. Cuccaro, T.H. Wassink, W.M. McMahon, H. Coon, J. Miller, J.I. Nurnberger Jr., M.W. State, J.L. Haines, J.S. Sutcliffe, E.H. Cook, N.J. Minshew, J.D. Buxbaum, G. Dawson, S.F.A. Grant, D.H. Geschwind, M.A. Pericak-Vance, G.D. Schellenberg and H. Hakonarson. Common Genetic Variation in the Intergenic Region Between CDH10 and CDH9 is Associated With Susceptibility to Autism Spectrum Disorders.. Children's Hospital of Philadelphia Poster Day, Philadelphia, USA. Poster, 2009.. 2009.
    • K. Wang, H. Zhang, H. Cui, S. J. Diskin, C. Winter, C. Bosse, J. T. Glessner, C. Kim, L. Nguyen, M. Diamond, S.F.A. Grant, Y. Mosse, S. Hannenhalli, H. Li, M. Devoto, W. London, M. Capasso, N. Rahman, H. Hakonarson and J. M. Maris. :. Integrative genomics identifies LMO1 as a neuroblastoma predisposition gene.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Oral.. 2009.
    • K. Wang, H. Zhang, M. Imielinski, H.Q. Qu, S. Kugathasan, V. Annese, M. Dubinsky, R.K. Russell, J.P. Bradfield, P.M.A. Sleiman, J. Glessner, T. Walters, C. Hou, C. Kim, E.C. Frackelton, M. Garris, J. Doran, P. Lionetti, A. Barabino, J. Van Limbergen, S. Guthery, L. Denson, D. Piccoli, M. Silverberg, C. Stanley, D. Monos, D.C. Wilson, A. Griffiths, S.F.A. Grant, J. Satsangi, C. Polychronakos, R. Baldassano and H. Hakonarson. Bi-directional sharing of susceptibility variants in patients with inflammatory bowel disease and Type 1 diabetes.. 8th UPenn Biomedical PostDoc Research Symposium 2009 Notes: Oral.. 2009.
    • M. Imielinski, R.N. Baldassano, A. Griffiths, R.K. Russell, V. Annese, M. Dubinsky, S. Kugathasan, J. Bradfield, T. Walters, P. Sleiman, C. Kim, J. Van Limbergen, S.L. Guthery, L. Denson, D.C. Wilson, S.F.A. Grant, M. Daly, M. Silverberg, J. Satsangi and H. Hakonarson:. Novel Risk Variants in a Genome Wide Scan of Pediatric Onset Inflammatory Bowel Disease.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Oral.. 2009.
    • P. Sleiman, J. Flory, M. Imielinski, J.P. Bradfield, K. Annaiah, S. Willis-Owen, N.M. Rafael, S. Michel, C.E. Kim, R. Grundmeier, J. Allen, J. Spergel, J. Christie, M. Kabesch, M.F. Moffatt, M.M. Grunstein, K.C. Barnes, M. Magnusson, S.F.A. Grant, H. Bisgaard and H. Hakonarson. Genome Wide Association Identifies an Asthma Susceptibility Locus on Chromosome 1q31 in Both Caucasian and African-American Children.. Children's Hospital of Philadelphia Poster Day, Philadelphia, USA 2009 Notes: Poster.. 2009.
    • R.M. Freathy, U. Sovio, D.O. Mook-Kanamori, I. Prokopenko, N.J. Timpson, D.J. Berry, N.M. Warrington, E. Widen, J.J. Hottenga, M. Kaakinen, L.A. Lange, J.P. Bradfield, M. Kerkhof, J.A. Marsh, R. Mägi, C.M. Chen, L.S. Adair, Y.S. Aulchenko, A.J. Bennett, J.B. Borja, N. Bouatia-Naji, P. Charoen, L.J. M. Coin, D.L. Cousminer, E. de Geus, P. Deloukas, P. Elliott, D. Evans, P. Froguel, B. Glaser, C.J. Groves, A.L. Hartikainen, N. Hassanali, A. Hofman, J.M. P. Holly, E. Hyppönen, S. Kanoni, B.A. Knight, J. Laitinen, C.M. Lindgren, P. O'Reilly, C.E. Pennell, D.S. Postma, A. Pouta, A. Ramasamy, N.W. Rayner, S.M. Ring, F. Rivadeneira, B.M. Shields, D.P. Strachan, I. Surakka, A. Taanila, C. Tiesler, A.G. Uitterlinden, C.M. van Duijn, A.H. Wijga, G. Willemsen, H. Zhang, J. Zhao, E.A.P. Steegers, A.T. Hattersley, J.G. Eriksson, L. Peltonen, K.L. Mohlke, S.F.A. Grant, H. Hakonarson, G.H. Koppelman, G.V. Dedoussis, J. Heinrich, L.J. Palmer, T.M. Frayling, D. Boomsma, G. Davey Smith, C. Power, M.R. Jarvelin, V.W.V. Jaddoe and M.I. McCarthy. New loci on chromosomes 3q25 and 3q21 are associated with size at birth.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Oral.. 2009.
    • S.F.A. Grant, J.P. Bradfield, J. Zhao, H. Zhang, K. Annaiah, C.E. Kim, J.T. Glessner, E.C. Frackelton, F.G. Otieno, K.A. Thomas, M. Garris, R.M. Chiavacci, K. Wang, M. Li, R.I. Berkowitz and H. Hakonarson. Interim analysis from a genome-wide association study of childhood obesity identifies FTO as strongly associated with the trait.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Poster.. 2009.
    • S.F.A. Grant, K. Wang, H. Zhang, K. Annaiah, C.E. Kim, J.P. Bradfield, J.T. Glessner, H.D. Nah, R.E. Kirschner and H. Hakonarson:. A genome-wide association study identifies a locus for non-syndromic cleft lip with or without cleft palate on 8q24.. Cleft 2009, Fortaleza, Brazil 2009 Notes: Oral.. 2009.
    • W.D. Li, G.M. Yuan, S.F.A. Grant, H. Hakonarson and R.A. Price :. SPAG16 Gene Variants are Associated with Fasting Glucose and Insulin Sensitivity.. American Society of Human Genetics, Honolulu, USA 2009 Notes: Poster.. 2009.
    • X. Gai, M. Xie, J.C. Perin, K. Murphy, R. O'Hara, M. D'arcy, J.T. Glessner, S.F.A. Grant, H. Hakonarson, E.F. Rappaport, T.H. Shaikh and P.S. White. An Integrated Analysis Workflow for High-throughput Analysis of Copy Number Variation for Discovery and Clinical Diagnostics.. Children's Hospital of Philadelphia Poster Day, Philadelphia, USA. Poster, 2009.. 2009.
    • Grant SF, Hakonarson H. Genome-wide association studies in type 1 diabetes.. Curr Diab Rep. Vol 9(2) . 2009 April:157-63.
    • Hakonarson H, Grant SF. Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders.. Semin Immunol. 2009 June.
    • Scherr R, Essers J, Hakonarson H, Kugathasan S.. Genetic determinants of pediatric inflammatory bowel disease: is age of onset genetically determind?. Dig Dis.. Vol 27(3) . 2009 September:236-239.
    • Diskin Sharon J, Hou Cuiping, Glessner Joseph T, Attiyeh Edward F, Laudenslager Marci, Bosse Kristopher, Cole Kristina, Mossé Yaël P, Wood Andrew, Lynch Jill E, Pecor Katlyn, Diamond Maura, Winter Cynthia, Wang Kai, Kim Cecilia, Geiger Elizabeth A, McGrady Patrick W, Blakemore Alexandra I F, London Wendy B, Shaikh Tamim H, Bradfield Jonathan, Grant Struan F A, Li Hongzhe, Devoto Marcella, Rappaport Eric R, Hakonarson Hakon, Maris John M. Copy number variation at 1q21.1 associated with neuroblastoma.. Nature. Vol 459(7249) . 2009 Jun:987-91.
    • Kanetsky Peter A, Mitra Nandita, Vardhanabhuti Saran, Li Mingyao, Vaughn David J, Letrero Richard, Ciosek Stephanie L, Doody David R, Smith Lauren M, Weaver Joellen, Albano Anthony, Chen Chu, Starr Jacqueline R, Rader Daniel J, Godwin Andrew K, Reilly Muredach P, Hakonarson Hakon, Schwartz Stephen M, Nathanson Katherine L. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer.. Nature genetics. Vol 41(7) . 2009 Jul:811-5.
    • Zhao Jianhua, Bradfield Jonathan P, Li Mingyao, Wang Kai, Zhang Haitao, Kim Cecilia E, Annaiah Kiran, Glessner Joseph T, Thomas Kelly, Garris Maria, Frackelton Edward C, Otieno F George, Shaner Julie L, Smith Ryan M, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon, Grant Struan F A. The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.. Obesity (Silver Spring, Md.). Vol 17(12) . 2009 Dec:2254-7.
    • Qu H Q, Grant S F A, Bradfield J P, Kim C, Frackelton E, Hakonarson H, Polychronakos C. Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies.. Journal of medical genetics. Vol 46(8) . 2009 Aug:553-4.
    • Elia Josephine, Takeda Toshinobu, Deberardinis Rachel, Burke Judy, Accardo Jennifer, Ambrosini Paul J, Blum Nathan J, Brown Lawrence W, Lantieri Francesca, Berrettini Wade, Devoto Marcella, Hakonarson Hakon. Nocturnal enuresis: a suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder.. The Journal of pediatrics. Vol 155(2) . 2009 Aug:239-44.e5.
    • Barrett Jeffrey C, Clayton David G, Concannon Patrick, Akolkar Beena, Cooper Jason D, Erlich Henry A, Julier Cécile, Morahan Grant, Nerup Jørn, Nierras Concepcion, Plagnol Vincent, Pociot Flemming, Schuilenburg Helen, Smyth Deborah J, Stevens Helen, Todd John A, Walker Neil M, Rich Stephen S. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.. Nature genetics. Vol 41(6) . 2009 Jun:703-7.
    • Himes Blanca E, Hunninghake Gary M, Baurley James W, Rafaels Nicholas M, Sleiman Patrick, Strachan David P, Wilk Jemma B, Willis-Owen Saffron A G, Klanderman Barbara, Lasky-Su Jessica, Lazarus Ross, Murphy Amy J, Soto-Quiros Manuel E, Avila Lydiana, Beaty Terri, Mathias Rasika A, Ruczinski Ingo, Barnes Kathleen C, Celedón Juan C, Cookson William O C, Gauderman W James, Gilliland Frank D, Hakonarson Hakon, Lange Christoph, Moffatt Miriam F, O'Connor George T, Raby Benjamin A, Silverman Edwin K, Weiss Scott T. Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.. American journal of human genetics. Vol 84(5) . 2009 May:581-93.
    • Capasso Mario, Devoto Marcella, Hou Cuiping, Asgharzadeh Shahab, Glessner Joseph T, Attiyeh Edward F, Mosse Yael P, Kim Cecilia, Diskin Sharon J, Cole Kristina A, Bosse Kristopher, Diamond Maura, Laudenslager Marci, Winter Cynthia, Bradfield Jonathan P, Scott Richard H, Jagannathan Jayanti, Garris Maria, McConville Carmel, London Wendy B, Seeger Robert C, Grant Struan F A, Li Hongzhe, Rahman Nazneen, Rappaport Eric, Hakonarson Hakon, Maris John M. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.. Nature genetics. Vol 41(6) . 2009 Jun:718-23.
    • Glessner Joseph T, Wang Kai, Cai Guiqing, Korvatska Olena, Kim Cecilia E, Wood Shawn, Zhang Haitao, Estes Annette, Brune Camille W, Bradfield Jonathan P, Imielinski Marcin, Frackelton Edward C, Reichert Jennifer, Crawford Emily L, Munson Jeffrey, Sleiman Patrick M A, Chiavacci Rosetta, Annaiah Kiran, Thomas Kelly, Hou Cuiping, Glaberson Wendy, Flory James, Otieno Frederick, Garris Maria, Soorya Latha, Klei Lambertus, Piven Joseph, Meyer Kacie J, Anagnostou Evdokia, Sakurai Takeshi, Game Rachel M, Rudd Danielle S, Zurawiecki Danielle, McDougle Christopher J, Davis Lea K, Miller Judith, Posey David J, Michaels Shana, Kolevzon Alexander, Silverman Jeremy M, Bernier Raphael, Levy Susan E, Schultz Robert T, Dawson Geraldine, Owley Thomas, McMahon William M, Wassink Thomas H, Sweeney John A, Nurnberger John I, Coon Hilary, Sutcliffe James S, Minshew Nancy J, Grant Struan F A, Bucan Maja, Cook Edwin H, Buxbaum Joseph D, Devlin Bernie, Schellenberg Gerard D, Hakonarson Hakon. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.. Nature. Vol 459(7246) . 2009 May:569-73.
    • Wang Kai, Zhang Haitao, Ma Deqiong, Bucan Maja, Glessner Joseph T, Abrahams Brett S, Salyakina Daria, Imielinski Marcin, Bradfield Jonathan P, Sleiman Patrick M A, Kim Cecilia E, Hou Cuiping, Frackelton Edward, Chiavacci Rosetta, Takahashi Nagahide, Sakurai Takeshi, Rappaport Eric, Lajonchere Clara M, Munson Jeffrey, Estes Annette, Korvatska Olena, Piven Joseph, Sonnenblick Lisa I, Alvarez Retuerto Ana I, Herman Edward I, Dong Hongmei, Hutman Ted, Sigman Marian, Ozonoff Sally, Klin Ami, Owley Thomas, Sweeney John A, Brune Camille W, Cantor Rita M, Bernier Raphael, Gilbert John R, Cuccaro Michael L, McMahon William M, Miller Judith, State Matthew W, Wassink Thomas H, Coon Hilary, Levy Susan E, Schultz Robert T, Nurnberger John I, Haines Jonathan L, Sutcliffe James S, Cook Edwin H, Minshew Nancy J, Buxbaum Joseph D, Dawson Geraldine, Grant Struan F A, Geschwind Daniel H, Pericak-Vance Margaret A, Schellenberg Gerard D, Hakonarson Hakon. Common genetic variants on 5p14.1 associate with autism spectrum disorders.. Nature. Vol 459(7246) . 2009 May:528-33.
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    • Sleiman Patrick M A, Hakonarson Hakon. Recent advances in the genetics and genomics of asthma and related traits.. Current opinion in pediatrics. Vol 22(3) . 2010 Jun:307-12.
    • Wang Kai, Dickson Samuel P, Stolle Catherine A, Krantz Ian D, Goldstein David B, Hakonarson Hakon. Interpretation of association signals and identification of causal variants from genome-wide association studies.. American journal of human genetics. Vol 86(5) . 2010 May:730-42.
    • Liu Jason Z, Tozzi Federica, Waterworth Dawn M, Pillai Sreekumar G, Muglia Pierandrea, Middleton Lefkos, Berrettini Wade, Knouff Christopher W, Yuan Xin, Waeber Gérard, Vollenweider Peter, Preisig Martin, Wareham Nicholas J, Zhao Jing Hua, Loos Ruth J F, Barroso Inês, Khaw Kay-Tee, Grundy Scott, Barter Philip, Mahley Robert, Kesaniemi Antero, McPherson Ruth, Vincent John B, Strauss John, Kennedy James L, Farmer Anne, McGuffin Peter, Day Richard, Matthews Keith, Bakke Per, Gulsvik Amund, Lucae Susanne, Ising Marcus, Brueckl Tanja, Horstmann Sonja, Wichmann H-Erich, Rawal Rajesh, Dahmen Norbert, Lamina Claudia, Polasek Ozren, Zgaga Lina, Huffman Jennifer, Campbell Susan, Kooner Jaspal, Chambers John C, Burnett Mary Susan, Devaney Joseph M, Pichard Augusto D, Kent Kenneth M, Satler Lowell, Lindsay Joseph M, Waksman Ron, Epstein Stephen, Wilson James F, Wild Sarah H, Campbell Harry, Vitart Veronique, Reilly Muredach P, Li Mingyao, Qu Liming, Wilensky Robert, Matthai William, Hakonarson Hakon H, Rader Daniel J, Franke Andre, Wittig Michael, Schäfer Arne, Uda Manuela, Terracciano Antonio, Xiao Xiangjun, Busonero Fabio, Scheet Paul, Schlessinger David, St Clair David, Rujescu Dan, Abecasis Gonçalo R, Grabe Hans Jörgen, Teumer Alexander, Völzke Henry, Petersmann Astrid, John Ulrich, Rudan Igor, Hayward Caroline, Wright Alan F, Kolcic Ivana, Wright Benjamin J, Thompson John R, Balmforth Anthony J, Hall Alistair S, Samani Nilesh J, Anderson Carl A, Ahmad Tariq, Mathew Christopher G, Parkes Miles, Satsangi Jack, Caulfield Mark, Munroe Patricia B, Farrall Martin, Dominiczak Anna, Worthington Jane, Thomson Wendy, Eyre Steve, Barton Anne, Mooser Vincent, Francks Clyde, Marchini Jonathan. Meta-analysis and imputation refines the association of 15q25 with smoking quantity.. Nature genetics. Vol 42(5) . 2010 May:436-40.
    • Imielinski Marcin, Hakonarson Hakon. Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond.. Pharmacogenomics. Vol 11(5) . 2010 May:663-5.
    • Qu Hui-Qi, Bradfield Jonathan P, Li Quan, Kim Cecilia, Frackelton Edward, Grant Struan F A, Hakonarson Hakon, Polychronakos Constantin. In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium.. Human molecular genetics. Vol 19(12) . 2010 Jun:2534-8.
    • Freathy Rachel M, Mook-Kanamori Dennis O, Sovio Ulla, Prokopenko Inga, Timpson Nicholas J, Berry Diane J, Warrington Nicole M, Widen Elisabeth, Hottenga Jouke Jan, Kaakinen Marika, Lange Leslie A, Bradfield Jonathan P, Kerkhof Marjan, Marsh Julie A, Mägi Reedik, Chen Chih-Mei, Lyon Helen N, Kirin Mirna, Adair Linda S, Aulchenko Yurii S, Bennett Amanda J, Borja Judith B, Bouatia-Naji Nabila, Charoen Pimphen, Coin Lachlan J M, Cousminer Diana L, de Geus Eco J C, Deloukas Panos, Elliott Paul, Evans David M, Froguel Philippe, Glaser Beate, Groves Christopher J, Hartikainen Anna-Liisa, Hassanali Neelam, Hirschhorn Joel N, Hofman Albert, Holly Jeff M P, Hyppönen Elina, Kanoni Stavroula, Knight Bridget A, Laitinen Jaana, Lindgren Cecilia M, McArdle Wendy L, O'Reilly Paul F, Pennell Craig E, Postma Dirkje S, Pouta Anneli, Ramasamy Adaikalavan, Rayner Nigel W, Ring Susan M, Rivadeneira Fernando, Shields Beverley M, Strachan David P, Surakka Ida, Taanila Anja, Tiesler Carla, Uitterlinden Andre G, van Duijn Cornelia M, Wijga Alet H, Willemsen Gonneke, Zhang Haitao, Zhao Jianhua, Wilson James F, Steegers Eric A P, Hattersley Andrew T, Eriksson Johan G, Peltonen Leena, Mohlke Karen L, Grant Struan F A, Hakonarson Hakon, Koppelman Gerard H, Dedoussis George V, Heinrich Joachim, Gillman Matthew W, Palmer Lyle J, Frayling Timothy M, Boomsma Dorret I, Davey Smith George, Power Chris, Jaddoe Vincent W V, Jarvelin Marjo-Riitta, McCarthy Mark I. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.. Nature genetics. Vol 42(5) . 2010 May:430-5.
    • Leyva-Vega Melissa, Gerfen Jennifer, Thiel Brian D, Jurkiewicz Dorota, Rand Elizabeth B, Pawlowska Joanna, Kaminska Diana, Russo Pierre, Gai Xiaowu, Krantz Ian D, Kamath Binita M, Hakonarson Hakon, Haber Barbara A, Spinner Nancy B. Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.. American journal of medical genetics. Part A. Vol 152A(4) . 2010 Apr:886-95.
    • Rothenberg Marc E, Spergel Jonathan M, Sherrill Joseph D, Annaiah Kiran, Martin Lisa J, Cianferoni Antonella, Gober Laura, Kim Cecilia, Glessner Joseph, Frackelton Edward, Thomas Kelly, Blanchard Carine, Liacouras Chris, Verma Ritu, Aceves Seema, Collins Margaret H, Brown-Whitehorn Terri, Putnam Phil E, Franciosi James P, Chiavacci Rosetta M, Grant Struan F A, Abonia J Pablo, Sleiman Patrick M A, Hakonarson Hakon. Common variants at 5q22 associate with pediatric eosinophilic esophagitis.. Nature genetics. Vol 42(4) . 2010 Apr:289-91.
    • Zajac Allison, Baek Seung-Hak, Salhab Imad, Radecki Melissa A, Kim Sukwha, Hakonarson Hakon, Nah Hyun-Duck. Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.. American journal of medical genetics. Part A. Vol 152A(3) . 2010 Mar:770-6.
    • Wang Kai, Baldassano Robert, Zhang Haitao, Qu Hui-Qi, Imielinski Marcin, Kugathasan Subra, Annese Vito, Dubinsky Marla, Rotter Jerome I, Russell Richard K, Bradfield Jonathan P, Sleiman Patrick M A, Glessner Joseph T, Walters Thomas, Hou Cuiping, Kim Cecilia, Frackelton Edward C, Garris Maria, Doran James, Romano Claudio, Catassi Carlo, Van Limbergen Johan, Guthery Stephen L, Denson Lee, Piccoli David, Silverberg Mark S, Stanley Charles A, Monos Dimitri, Wilson David C, Griffiths Anne, Grant Struan F A, Satsangi Jack, Polychronakos Constantin, Hakonarson Hakon. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.. Human molecular genetics. Vol 19(10) . 2010 May:2059-67.
    • Arcos-Burgos M, Jain M, Acosta M T, Shively S, Stanescu H, Wallis D, Domené S, Vélez J I, Karkera J D, Balog J, Berg K, Kleta R, Gahl W A, Roessler E, Long R, Lie J, Pineda D, Londoño A C, Palacio J D, Arbelaez A, Lopera F, Elia J, Hakonarson H, Johansson S, Knappskog P M, Haavik J, Ribases M, Cormand B, Bayes M, Casas M, Ramos-Quiroga J A, Hervas A, Maher B S, Faraone S V, Seitz C, Freitag C M, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch K-P, Swanson J, Vortmeyer A, Bailey-Wilson J E, Castellanos F X, Muenke M. A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.. Molecular psychiatry. Vol 15(11) . 2010 Nov:1053-66.
    • Van Deerlin Vivianna M, Sleiman Patrick M A, Martinez-Lage Maria, Chen-Plotkin Alice, Wang Li-San, Graff-Radford Neill R, Dickson Dennis W, Rademakers Rosa, Boeve Bradley F, Grossman Murray, Arnold Steven E, Mann David M A, Pickering-Brown Stuart M, Seelaar Harro, Heutink Peter, van Swieten John C, Murrell Jill R, Ghetti Bernardino, Spina Salvatore, Grafman Jordan, Hodges John, Spillantini Maria Grazia, Gilman Sid, Lieberman Andrew P, Kaye Jeffrey A, Woltjer Randall L, Bigio Eileen H, Mesulam Marsel, Al-Sarraj Safa, Troakes Claire, Rosenberg Roger N, White Charles L, Ferrer Isidro, Lladó Albert, Neumann Manuela, Kretzschmar Hans A, Hulette Christine Marie, Welsh-Bohmer Kathleen A, Miller Bruce L, Alzualde Ainhoa, Lopez de Munain Adolfo, McKee Ann C, Gearing Marla, Levey Allan I, Lah James J, Hardy John, Rohrer Jonathan D, Lashley Tammaryn, Mackenzie Ian R A, Feldman Howard H, Hamilton Ronald L, Dekosky Steven T, van der Zee Julie, Kumar-Singh Samir, Van Broeckhoven Christine, Mayeux Richard, Vonsattel Jean Paul G, Troncoso Juan C, Kril Jillian J, Kwok John B J, Halliday Glenda M, Bird Thomas D, Ince Paul G, Shaw Pamela J, Cairns Nigel J, Morris John C, McLean Catriona Ann, DeCarli Charles, Ellis William G, Freeman Stefanie H, Frosch Matthew P, Growdon John H, Perl Daniel P, Sano Mary, Bennett David A, Schneider Julie A, Beach Thomas G, Reiman Eric M, Woodruff Bryan K, Cummings Jeffrey, Vinters Harry V, Miller Carol A, Chui Helena C, Alafuzoff Irina, Hartikainen Päivi, Seilhean Danielle, Galasko Douglas, Masliah Eliezer, Cotman Carl W, Tuñón M Teresa, Martínez M Cristina Caballero, Munoz David G, Carroll Steven L, Marson Daniel, Riederer Peter F, Bogdanovic Nenad, Schellenberg Gerard D, Hakonarson Hakon, Trojanowski John Q, Lee Virginia M-Y. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.. Nature genetics. Vol 42(3) . 2010 Mar:234-9.
    • Dickson Samuel P, Wang Kai, Krantz Ian, Hakonarson Hakon, Goldstein David B. Rare variants create synthetic genome-wide associations.. PLoS biology. Vol 8(1) . 2010 Jan:e1000294.
    • Cappola Thomas P, Li Mingyao, He Jing, Ky Bonnie, Gilmore Joan, Qu Liming, Keating Brendan, Reilly Muredach, Kim Cecelia E, Glessner Joseph, Frackelton Edward, Hakonarson Hakon, Syed Faisel, Hindes Anna, Matkovich Scot J, Cresci Sharon, Dorn Gerald W. Common variants in HSPB7 and FRMD4B associated with advanced heart failure.. Circulation. Cardiovascular genetics. Vol 3(2) . 2010 Apr:147-54.
    • Conlin Laura K, Thiel Brian D, Bonnemann Carsten G, Medne Livija, Ernst Linda M, Zackai Elaine H, Deardorff Matthew A, Krantz Ian D, Hakonarson Hakon, Spinner Nancy B. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.. Human molecular genetics. Vol 19(7) . 2010 Apr:1263-75.
    • Sleiman Patrick M A, Flory James, Imielinski Marcin, Bradfield Jonathan P, Annaiah Kiran, Willis-Owen Saffron A G, Wang Kai, Rafaels Nicholas M, Michel Sven, Bonnelykke Klaus, Zhang Haitao, Kim Cecilia E, Frackelton Edward C, Glessner Joseph T, Hou Cuiping, Otieno F George, Santa Erin, Thomas Kelly, Smith Ryan M, Glaberson Wendy R, Garris Maria, Chiavacci Rosetta M, Beaty Terri H, Ruczinski Ingo, Orange Jordan S, Orange Jordan M, Allen Julian, Spergel Jonathan M, Grundmeier Robert, Mathias Rasika A, Christie Jason D, von Mutius Erika, Cookson William O C, Kabesch Michael, Moffatt Miriam F, Grunstein Michael M, Barnes Kathleen C, Devoto Marcella, Magnusson Mark, Li Hongzhe, Grant Struan F A, Bisgaard Hans, Hakonarson Hakon. Variants of DENND1B associated with asthma in children.. The New England journal of medicine. Vol 362(1) . 2010 Jan:36-44.
    • Dubinsky Marla C, Mei Ling, Friedman Madison, Dhere Tanvi, Haritunians Talin, Hakonarson Hakon, Kim Cecilia, Glessner Joseph, Targan Stephan R, McGovern Dermot P, Taylor Kent D, Rotter Jerome I. Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.. Inflammatory bowel diseases. Vol 16(8) . 2010 Aug:1357-66.
    • Grant Struan F A, Hakonarson Hakon, Schwartz Stanley. Can the genetics of type 1 and type 2 diabetes shed light on the genetics of latent autoimmune diabetes in adults?. Endocrine reviews. Vol 31(2) . 2010 Apr:183-93.
    • B. Keating, Y. Guo, M. Lanktree, C. Simpson, J. Glessner, H. Ongen, M. Kumari, K. Wang, H. Qui, P. Talmud, J. Peden, A. Reiner, S.F.A. Grant R. Hegele and H. Hakonarson. Large-scale association studies of adult height using a 50K SNP array.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Oral.. 2010.
    • C.A. Wise, S. Sharma, X. Gao, D. Londono, S.E. Devroy, K.N. Mauldin, J.T. Frankel, J.M. Brandon, D. Zhang, Q-Z. Li, M.B. Dobbs, C.A. Gurnett, S.F.A. Grant, H. Hakonarson, J.P. Dormans, J.A. Herring and D. Gordon. Genome-wide searches for idiopathic scoliosis susceptibility loci.. Genomics of Common Disease, Houston, USA 2010.. 2010.
    • C.E. Kim, J.T. Glessner, K. Wang, P.M.A. Sleiman, H. Zhang, J.H. Flory, J.P. Bradfield, M. Imielinski, E.C. Frackelton, H. Qiu, F. Mentch, S.F.A. Grant and H. Hakonarson:. Duplication of SLIT3 on 5q35.1 Predisposes to Major Depressive Disorder.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Poster.. 2010.
    • F.D. Mentch, D.J. Abrams, H. Qui, S. Ostapenko, J.J.M. Connolly, C.E. Kim, R.M. Chiavacci, L. Hermannsson, K. Wang, P.M. Sleiman, Y. Guo, B. Keating, S.F.A. Grant, R. Grundmeier and H. Hakonarson. Validation of Electronic Health Records in a large scale pediatric genomics study.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Poster.. 2010.
    • H. Hakonarson, J.T. Glessner, K. Wang, N. Takahashi, C.J. Shtir, P.M.A. Sleiman, H. Zhang, C.E. Kim, G.J. Lyon, J.H. Flory, J.P. Bradfield, M. Imielinski, C. Hou, E.C Frackelton, F. Middleton, A.A. Todorov, A. Reif, B. Franke, K.P. Lesch, R. Anney, P. Shaw, M. Devoto, S.F.A. Grant, P. White, J.D. Buxbaum, J.L. Rapoport, N.M. Williams, S.F. Nelson, S.V. Faraone, J. Elia and ADHD GWAS Consortium. Genome Wide Copy Number Variation Study Associates Metabotropic Glutamate Receptor Genes with Attention Deficit Hyperactivity Disorder.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Oral.. 2010.
    • H. Zhang, K. Wang, M.R. Sperling, D.J. Dlugos, W.D. Lo, C. Hou, J.T. Glessner, J.P. Bradfield, P. Sleiman, Y. Guo, C. Kim, R. Chiavacci, F. Mentch, H. Qiu, B. Keating, S.F.A. Grant, M. Privitera, J.A. French, S.C. Schachter, P. Cossette, F.W. Lohoff, W. Berrettini, H. Basehore, T.N. Ferraro, R.J. Buono and H. Hakonarson. Genome Wide Association Study Identifies DACH1 Gene Associated with Epilepsy.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Poster.. 2010.
    • J. Zhao, J.P. Bradfield, M. Li, H. Zhang, F.D. Mentch, K. Wang, P.M. Sleiman, C.E. Kim, J.T. Glessner, E.C. Frackelton, R.M. Chiavacci, R.I. Berkowitz, B.S. Zemel, H. Hakonarson and S.F.A. Grant. BMD-associated variation at the Osterix locus is correlated with pediatric BMI in females.. Sylvan M. Cohen Annual Retreat "Structurally Sound: Bone Health and Aging", Philadelphia, USA 2010 Notes: Poster.. 2010.
    • J. Zhao, J.P. Bradfield, M. Li, H. Zhang, F.D. Mentch, K. Wang, P.M. Sleiman, C.E. Kim, J.T. Glessner, E.C. Frackelton, R.M. Chiavacci, R.I. Berkowitz, B.S. Zemel, H. Hakonarson and S.F.A. Grant:. BMD-associated variation at the Osterix locus is correlated with pediatric BMI in females.. Obesity Society, San Diego, USA 2010 Notes: Poster.. 2010.
    • J. Zhao, J.P. Bradfield, M. Li, H. Zhang, F.D. Mentch, K. Wang, P.M. Sleiman, C.E. Kim, J.T. Glessner, E.C. Frackelton, R.M. Chiavacci, R.I. Berkowitz, B.S. Zemel, H. Hakonarson and S.F.A. Grant. BMD-associated variation at the Osterix locus is correlated with pediatric BMI in females.. American Society of Bone and Mineral Research, Toronto, Canada 2010 Notes: Poster.. 2010.
    • J.P. Bradfield, H.Q. Qu, K. Wang, H. Zhang, P.M. Sleiman, C.E. Kim, K. Annaiah, J.T. Glessner, K. Thomas, E.C. Frackelton, R. Chiavacci, M. Imielinski, D.S. Monos, S.F.A. Grant, C. Polychronakos and H. Hakonarson. Meta-analysis of type 1 diabetes GWAS datasets reveals novel loci.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Poster.. 2010.
    • J.P. Dormans, S.F.A. Grant, N. Rendon, F.D. Mentch, C.E. Kim, E.C. Frackelton, J.P. Bradfield, H. Zhang, R.M. Chiavacci and H. Hakonarson:. A Genome Wide Association Study Identifies an IL17RC Missense Mutation (S111L) as an Adolescent Idiopathic Scoliosis Locus.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Oral.. 2010.
    • P. Sleiman, K. Bonnelykke, S.F.A. Grant, C. Kim, R. Chiavacci, E.A. Nohr, D. Strachan, E. Widen, L. Palmer, A. Kustovic, J. Heinrich, V. Jaddoe, H. Bisgaard and H. Hakonarson:. A multi-center meta-analysis of pediatric asthma.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Oral.. 2010.
    • S. Deliard, J. Zhao, C.E. Kim, C. Hou, E.C. Frackelton, J.P. Bradfield, R.M. Chiavacci, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant:. Sequencing of FTO in lean and obese children of European and African ancestry reveals multiple novel exonic variants.. Obesity Society, San Diego, USA 2010 Notes: Poster.. 2010.
    • S. Deliard, J. Zhao, C.E. Kim, C. Hou, E.C. Frackelton, J.P. Bradfield, R.M. Chiavacci, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant. Sequencing of FTO in lean and obese children of European and African ancestry reveals multiple novel exonic variants.. American Diabetes Association Scientific Sessions, Orlando, USA 2010 Notes: Poster.. 2010.
    • S. Sharma, X. Gao, D. Londono, S.E. Devroy, K.N. Mauldin, J.T. Frankel, J.M. Brandon, D. Zhang, Q-Z. Li, M.B. Dobbs, C.A. Gurnett, S.F.A. Grant, H. Hakonarson, J.P. Dormans, J.A. Herring, D. Gordon and C.A. Wise. Genome-wide studies of idiopathic scoliosis susceptibility implicate genes encoding neural cell adhesion proteins.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Poster.. 2010.
    • S.F.A. Grant, J.T. Glessner, J.P. Bradfield, K. Wang, H. Zhang1, F.D. Mentch, J. Zhao, C.E. Kim, C. Hou, S. Deliard, E.C. Frackelton, R.M. Chiavacci, R.I. Berkowitz and H. Hakonarson:. Genome Wide Copy Number Variation Study Reveals Loci Exclusively Impacted in Childhood Obesity Cases.. American Diabetes Association Scientific Sessions, Orlando, USA 2010 Notes: Oral.. 2010.
    • S.F.A. Grant, J.T. Glessner, J.P. Bradfield, K. Wang, N. Takahashi, H. Zhang, F.D. Mentch, J. Zhao, C.E. Kim, S. Deliard, R.M. Chiavacci, M. Li, J.D. Buxbaum, R.I. Berkowitz and H. Hakonarson. Genome Wide Copy Number Variation Study Reveals Loci Impacted Only in Childhood Obesity.. Obesity Society, San Diego, USA 2010 Notes: Poster.. 2010.
    • S.F.A. Grant, J.T. Glessner, J.P. Bradfield, K. Wang, N. Takahashi, H. Zhang, P.M. Sleiman, F.D. Mentch, C.E. Kim, C. Hou, K.A. Thomas, M.L. Garris, S. Deliard, E.C. Frackelton, F.G. Otieno, J. Zhao, R.M. Chiavacci, M. Li, J.D. Buxbaum, R.I. Berkowitz and H. Hakonarson:. Genome Wide Copy Number Variation Study Reveals Novel Loci Impacting Childhood Obesity.. American Society of Human Genetics, Washington DC, USA 2010 Notes: Oral.. 2010.
    • Sleiman PM, Hakonarson H.. Recent advances in the genetics and genomics of asthma and related traits.. Curr Opin Pediatr. Vol 22(3) . 2010 Jun:307-12.
    • Swarr DT, Hakonarson H.. Unraveling the complex genetic underpinnings of asthma and allergic disorders.. Curr Opin Allergy Clin Immunol. Vol 10(5) . 2010 Oct:434-42.
    • Wang K, Li M, Hakonarson H. Analysing biological pathways in genome-wide association studies.. Nat Rev Genet. Vol 11(12) . 2010 Dec:434-42.
    • Imielinski M, Hakonarson H.. Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond.. Pharmacogenomics.. Vol 11(5) . 2010 May.
    • Connolly JM and Hakonarson H. The Genetics of Ausism Spectrum Disorders. InTech. 2011.
    • Marina B and Hakonarson H. The Genetics of Type 1 Diabetes. InTech. 2011.
    • Glessner JT, Hakonarson H.. Genome-wide Association: From Confounded to Confident.. Neuroscientist.. 2011 Jan.
    • March ME, Sleiman PM, Hakonarson H. The genetics of asthma and allergic disorders.. Discov Med.. Vol 11(56) . 2011 Jan:35-45.
    • Hakonarson H, Grant SF. Planning a genome-wide association study: Points to consider.. Ann Med.. Vol 43(6) . 2011 May:451-60.
    • Hakonarson H, Grant SF.. GWAS and its impact on elucidating the etiology of diabetes.. Diabetes Metab Res Rev. 2011 Jun.
    • J.P. Bradfield, H.Q. Qu, K. Wang, H. Zhang, P.M. Sleiman, C.E. Kim, F.D. Mentch, H. Qiu, J.T. Glessner, K.A. Thomas, E.C. Frackelton, R.M. Chiavacci, M. Imielinski, D.S. Monos, R. Pandey, M. Bakay, S.F.A. Grant, C. Polychronakos and H. Hakonarson. A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.. European Society of Human Genetics, Amsterdam, The Netherlands 2011 Notes: Poster.. 2011.
    • J.P. Bradfield, H.Q. Qu, K. Wang, H. Zhang, P.M. Sleiman, C.E. Kim, F.D. Mentch, H. Qiu, J.T. Glessner, K.A. Thomas, E.C. Frackelton, R.M. Chiavacci, M. Imielinski, D.S. Monos, R. Pandey, M. Bakay, S.F.A. Grant, C. Polychronakos and H. Hakonarson. A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.. American Diabetes Association Scientific Sessions, San Diego, USA 2011 Notes: Oral.. 2011.
    • J.P. Dormans, S.F.A. Grant, N. Rendon, F.D. Mentch, C.E. Kim, E.C. Frackelton, J.P. Bradfield, H. Zhang, R.M. Chiavacci and H. Hakonarson:. A Genome Wide Association Study Identifies an IL17RC Missense Mutation (S111L) as an Adolescent Idiopathic Scoliosis Locus.. American Academy of Orthopaedic Surgeons, San Diego, USA 2011 Notes: Oral.. 2011.
    • J.P. Dormans, S.F.A. Grant, N. Rendon, F.D. Mentch, C.E. Kim, E.C. Frackelton, J.P. Bradfield, H. Zhang, R.M. Chiavacci and H. Hakonarson. A Genome Wide Association Study Identifies an IL17RC Missense Mutation (S111L) as an Adolescent Idiopathic Scoliosis Locus.. American Academy of Orthopaedic Surgeons, San Diego, USA 2011 Notes: Oral.. 2011.
    • M. Bakay, R. Pandey, L. Monaco-Shawver, J. Glessner, C. Kim, F. Mentch, J. Bradfield, J. Kushner, S.F.A. Grant, C. Polychronakos, J.S. Orange and H. Hakonarson. Functional characterization of CLEC16A in natural killer (NK) cell lines.. American Diabetes Association Scientific Sessions, San Diego, USA 2011 Notes: Poster.. 2011.
    • Q. Li, H.Q. Qu, J.P. Bradfield, S.F.A. Grant, L.C. B. Chan, H. Hakonarson and C. Polychronakos. In silico mapping of the GLIS3 region in type 1 diabetes and type 2 diabetes.. American Diabetes Association Scientific Sessions, San Diego, USA 2011 Notes: Poster.. 2011.
    • S.F.A. Grant, J.T. Glessner, J.P. Bradfield, J. Zhao, J.E. Tirone, R.I. Berkowitz, H. Hakonarson and N. Sondheimer:. Relationship of mitochondrial heteroplasmy and variation with childhood obesity in European and African Americans.. Obesity Society, Orlando, USA 2011.. 2011.
    • J. T. Glessner, D. Hadley, K. Wang, J. Bradfield, C. Kim, F. Mentch, H. Qiu, E. Frackelton, J. Li, C. Hou, F. G. Otieno, K. Thomas, K. Seidler, R. Chiavacci, J. Connolly, G. Lyon, L. Tian, B. Keating, P. M. A. Sleiman, S. F. A. Grant, M. Li, H. Hakonarson.. Genome copy number variation landscape in 68,000 humans and relevance to complex disease.. Platform presentation ASHG, Montreal Canada, 2011.. 2011.
    • K. Curtin, S. Swierczek, F. Lorenzo, A. Thomas, K. Wang, H. Hakonarson, J. Prchal, N. Camp. A novel pairwise shared genomic segment statistic comparing cases and controls: application to polycythemia vera.. American Society of Human Genetics, Montreal, Canada, 2011 Notes: Poster.. 2011.
    • M. Bakay, R. Pandey, L. Monaco-Shawver, J. Glessner, C. Kim, F. Mentch, J. Bradfield, S. Grant, C. Polychronakos, J. Orange, H. Hakonarson. Functional Evaluation of CLEC16A: Role in Type 1 Diabetes.. American Society of Human Genetics, Montreal, Canada, 2011 Notes: Poster.. 2011.
    • R. Pandey, C. Cardinale, S. Panossian, F. Wang, E. Frackelton, C. Kim, M. Frank, R. Chiavacci, K. Kachelries, S. Grant, R. Baldassano, H. Hakonarson. Functional characterization of DcR3 in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis.. American Society of Human Genetics, Montreal, Canada, 2011 Notes: Poster.. 2011.
    • E. Sherr, S. Sajan, L. Fernandez, E. Rider, S. Esmaeeli, J. Glessner, H. Hakonarson, S. Christian, W. Dobyns. Copy Number Variants and Agenesis of the Corpus Callosum: A Significant Etiologic Mechanism that Overlaps with Autism.. American Society of Human Genetics, Montreal, Canada, 2011 Notes: Poster.. 2011.
    • D. Hadley, J. Glessner, F. Mentch, D. Abrams, C. Kim, E. Frackelton, C. Hou, R. Chiavacci, J. Connolly, G. Lyon, H. Hakonarson,. Autism Genome Project: Large-scale pathway analysis of copy number variants highlights defective GABAR-A signaling in autism spectrum disorders.. American Society of Human Genetics, Montreal, Canada, 2011 Notes: Poster.. 2011.
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    • Gai X, Xie H M, Perin J C, Takahashi N, Murphy K, Wenocur A S, D'arcy M, O'Hara R J, Goldmuntz E, Grice D E, Shaikh T H, Hakonarson H, Buxbaum J D, Elia J, White P S. Rare structural variation of synapse and neurotransmission genes in autism.. Molecular psychiatry. Vol 17(4) . 2012 Apr:402-11.
    • Casey Jillian P, Magalhaes Tiago, Conroy Judith M, Regan Regina, Shah Naisha, Anney Richard, Shields Denis C, Abrahams Brett S, Almeida Joana, Bacchelli Elena, Bailey Anthony J, Baird Gillian, Battaglia Agatino, Berney Tom, Bolshakova Nadia, Bolton Patrick F, Bourgeron Thomas, Brennan Sean, Cali Phil, Correia Catarina, Corsello Christina, Coutanche Marc, Dawson Geraldine, de Jonge Maretha, Delorme Richard, Duketis Eftichia, Duque Frederico, Estes Annette, Farrar Penny, Fernandez Bridget A, Folstein Susan E, Foley Suzanne, Fombonne Eric, Freitag Christine M, Gilbert John, Gillberg Christopher, Glessner Joseph T, Green Jonathan, Guter Stephen J, Hakonarson Hakon, Holt Richard, Hughes Gillian, Hus Vanessa, Igliozzi Roberta, Kim Cecilia, Klauck Sabine M, Kolevzon Alexander, Lamb Janine A, Leboyer Marion, Le Couteur Ann, Leventhal Bennett L, Lord Catherine, Lund Sabata C, Maestrini Elena, Mantoulan Carine, Marshall Christian R, McConachie Helen, McDougle Christopher J, McGrath Jane, McMahon William M, Merikangas Alison, Miller Judith, Minopoli Fiorella, Mirza Ghazala K, Munson Jeff, Nelson Stanley F, Nygren Gudrun, Oliveira Guiomar, Pagnamenta Alistair T, Papanikolaou Katerina, Parr Jeremy R, Parrini Barbara, Pickles Andrew, Pinto Dalila, Piven Joseph, Posey David J, Poustka Annemarie, Poustka Fritz, Ragoussis Jiannis, Roge Bernadette, Rutter Michael L, Sequeira Ana F, Soorya Latha, Sousa Inês, Sykes Nuala, Stoppioni Vera, Tancredi Raffaella, Tauber Maïté, Thompson Ann P, Thomson Susanne, Tsiantis John, Van Engeland Herman, Vincent John B, Volkmar Fred, Vorstman Jacob A S, Wallace Simon, Wang Kai, Wassink Thomas H, White Kathy, Wing Kirsty, Wittemeyer Kerstin, Yaspan Brian L, Zwaigenbaum Lonnie, Betancur Catalina, Buxbaum Joseph D, Cantor Rita M, Cook Edwin H, Coon Hilary, Cuccaro Michael L, Geschwind Daniel H, Haines Jonathan L, Hallmayer Joachim, Monaco Anthony P, Nurnberger John I, Pericak-Vance Margaret A, Schellenberg Gerard D, Scherer Stephen W, Sutcliffe James S, Szatmari Peter, Vieland Veronica J, Wijsman Ellen M, Green Andrew, Gill Michael, Gallagher Louise, Vicente Astrid, Ennis Sean. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.. Human genetics. Vol 131(4) . 2012 Apr:565-79.
    • Elia Josephine, Glessner Joseph T, Wang Kai, Takahashi Nagahide, Shtir Corina J, Hadley Dexter, Sleiman Patrick M A, Zhang Haitao, Kim Cecilia E, Robison Reid, Lyon Gholson J, Flory James H, Bradfield Jonathan P, Imielinski Marcin, Hou Cuiping, Frackelton Edward C, Chiavacci Rosetta M, Sakurai Takeshi, Rabin Cara, Middleton Frank A, Thomas Kelly A, Garris Maria, Mentch Frank, Freitag Christine M, Steinhausen Hans-Christoph, Todorov Alexandre A, Reif Andreas, Rothenberger Aribert, Franke Barbara, Mick Eric O, Roeyers Herbert, Buitelaar Jan, Lesch Klaus-Peter, Banaschewski Tobias, Ebstein Richard P, Mulas Fernando, Oades Robert D, Sergeant Joseph, Sonuga-Barke Edmund, Renner Tobias J, Romanos Marcel, Romanos Jasmin, Warnke Andreas, Walitza Susanne, Meyer Jobst, Pálmason Haukur, Seitz Christiane, Loo Sandra K, Smalley Susan L, Biederman Joseph, Kent Lindsey, Asherson Philip, Anney Richard J L, Gaynor J William, Shaw Philip, Devoto Marcella, White Peter S, Grant Struan F A, Buxbaum Joseph D, Rapoport Judith L, Williams Nigel M, Nelson Stanley F, Faraone Stephen V, Hakonarson Hakon. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.. Nature genetics. Vol 44(1) . 2012 Jan:78-84.
    • Jain M, Vélez J I, Acosta M T, Palacio L G, Balog J, Roessler E, Pineda D, Londoño A C, Palacio J D, Arbelaez A, Lopera F, Elia J, Hakonarson H, Seitz C, Freitag C M, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch K-P, Swanson J, Castellanos F X, Bailey-Wilson J E, Arcos-Burgos M, Muenke M. A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD.. Molecular psychiatry. Vol 17(7) . 2012 Jul:741-7.
    • Huff Chad D, Witherspoon David J, Zhang Yuhua, Gatenbee Chandler, Denson Lee A, Kugathasan Subra, Hakonarson Hakon, Whiting April, Davis Chadwick T, Wu Wilfred, Xing Jinchuan, Watkins W Scott, Bamshad Michael J, Bradfield Jonathan P, Bulayeva Kazima, Simonson Tatum S, Jorde Lynn B, Guthery Stephen L. Crohn's disease and genetic hitchhiking at IBD5.. Molecular biology and evolution. Vol 29(1) . 2012 Jan:101-11.
    • J. Bradfield, D. S. Monos, H. Q. Qu, C. Kim, M. Rossman, K. D. Rosenman, S. F. A. Grant, C. Polychronakos, H. Hakonarson.. HLA typing of a large type 1 diabetes cohort using SNP genotyping of the extended MHC.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • S. Esmaeeli Nieh, L. Fernandez, S. Sajan, E. Rider, P. Bukshpun, M. Wakahiro, J. T. Glessner, H. Hakonarson, S. L. Christian, W. B. Dobyns, E. H. Sherr.. Copy number variations (CNV) and agenesis of the corpus callosum, narrowing the recurrent 8p duplication interval.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • D. S. K. Kim, I. B. S. Stanaway, R. R. Rajagopalan, G. W. Wernovsky, J. B. Bernbaum, C. B. S. Solot, N. B. Burnham, E. Z. Zackai, R. R. C. Clancy, S. C. N. Nicolson, M. G. Gerdes, D. A. N. Nickerson, H. H. Hakonarson, J. W. G. Gaynor, G. P. J. Jarvik.. Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • Y. Guo, F. W. Asselbergs, E. P. A. van Iperen, S. Sivapalaratnam, V. Tragante, C. Elbers, H. Hakonarson, B. J. Keating, F. Drenos, IBC-Lipids consortium.. Twenty-three unreported genetic associations with lipid phenotypes: a dense gene-centric meta-analysis in 66,240 individuals across 32 studies.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • M. E. March, P. M. A. Sleiman, C. Hou, J. Bradfield, C. E. Kim, E. C. Frackleton, J. T. Glessner, H. Hakonarson.. Differential Behavior of Splice Isoforms of the Asthma Susceptibility Gene DENND1B.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • S. F. A. Grant, H. Hakonarson, T. R. Rebbeck, J. A. Mitchell.. Obesity susceptibility loci and associations across the pediatric body mass index distribution.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • D. Hadley, J. Bradfield, H. Hakonarson, S. Grant on behalf of the Early Growth Genetics Consortium.. A genome-wide meta-analysis of copy number variation identifies novel childhood obesity loci.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • J. Li, J. T. Glessner, H. Zhang, C. Hou, Z. Wei, J. P. Bradfield, F. D. Mentch, Y. Guo, C. Kim, Q. Xia, R. M. Chiavacci, K. A. Thomas, H. Qiu, S. Grant, S. L. Furth, H. Hakonarson, P. M. A. Sleiman.. GWAS of Blood Cell Traits Identifies Novel Associated Loci and Epistatic Interactions in Caucasian and African American Children.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • C. Kao, Z. Wei, J. Li, W. Wang, J. Glessner, C. Cardinale, J. Bradfield, E. Frackelton, C. Kim, F. Mentch, H. Qui, S. Grant, R. Baldassano, H. Hakonarson, International IBD Genetics Consortium.. Pathway-Based Meta Analysis of Ulcerative Colitis Genome-Wide Association Studies.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • E. Frackelton, P. M. A. Sleiman, L. Tien, S. Panossian, K. Xu, B. Tweddale, N. Abdel-Magid, C. Kim, Y. Housawi, H. Hakonarson.. Homozygosity mapping and exome sequencing in a Saudi-Arabian family with unspecified juvenile neurodegeneration.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • P. M. A. Sleiman, T. Satterthwaite, K. Ruparel, C. Kim, R. Chiavacci, M. E. Calkins, R. C. Gur, R. E. Gur, H. Hakonarson.. Genome-wide association of structural MRI data in a large, normally developing, pediatric population.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • R. Pellegrino, I. H. Kavakli, N. Goel, C. Cardinale, D. Dinges, S. Tufik, J. Hogenesh, A. Pack, H. Hakonarson.. DEC2 Gene Mutations Associated with distinct Sleep Phenotypes and Sleep length.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • L. Tian, D. Li, M. Keller, K. Cecilia, E. Frackelton, F. Otieno, H. Hakonarson, J. S. Orange.. Exome sequencing identifies missense IRF2BP2 mutation in a family with autosomal dominant common variable immunodeficiency (CVID).. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • A. S. Desai, D. Hadley, L. Tian, C. Kim, E. Frankelton, R. Chiavacci, F. G. Otieno, F. Mentch, H. Hakonarson, K. Wang, S. Pannosian.. From large-scale clinical recruitment to identification of a novel mutation in ADAMTSL2 in a family with Ehler-Danlos Syndrome.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • J. Glessner, H. Hakonarson.. ParseCNV Intregrative CNV Association Software with Quaility Tracking.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • Z. Wei, W. Wang, J. Bradfield, E. Frackelton, C. Kim, F. Mentch, R. Baldassano, H. Hakonarson. The International IBD Genetics Consortium. Large-sample size, comprehensive catalog of variants and advanced machine learning technique boost risk prediction for inflammatory bowel disease.. Platform presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • C. J. Cardinale, S. Panossian, F. Wang, E. C. Frackelton, C. E. Kim, F. D. Mentch, R. M. Chiavacci, K. E. Kachelries, R. Pandey, S. F. A. Grant, R. N. Baldassano, H. Hakonarson.. Targeted resequencing identifies secretion-defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • G. Lyon, T. Jiang, G. Sun, W. Wang, J. Hu, P. Bodily, L. Tian, B. Moore, H. Hakonarson, J. Wang, M. Yandell, E. Johnson, Z. Wei, K. Wang.. Low concordance of variant calling algorithms in exome sequencing.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • H. Qiu, F. Mentch, E. Frackelton, C. Kim, L. Hermannsson, H. Hakonarson.. Use of an ad-hoc information system to support data search at a genomics center.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • S. Sanna-Cherchi, K. Kiryluk, K. E. Burgess, M. Bodria, M. G. Sampson, D. Hadley, S. N. Nees, M. Verbitsky, V. J. Lozanovski, A. Materna-Kiryluk, B. J. Perry, N. Ristoska-Bojkovska, M. Zaniew, H. Flogelova, K. Drnasin, V. Goj, R. P. Lifton, L. N. Clark, M. Saraga, A. F. Dominiczak, L. Gesualdo, Z. Gucev, L. Allegri, A. Latos-Bielenska, D. Cusi, F. Scolari, V. Tasic, H. Hakonarson, G. M. Ghiggeri, A. G. Gharavi.. A High Frequency of Genomic Disorders in Patients with Congenital Kidney Malformations.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • R. Pandey, C. J. Cardinale, S. Panossian, F. Wang, E. Frackelton, C. Kim, F. Mentch, R. Chiavacci, K. Kachelries, S. Grant, R. Baldassano, H. Hakonarson.. Functional characterization of DcR3 and NF-?B in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • A. Mohamed-Hadley, D. Hadley, Z. Wu, C. Kao, A. Kini, J. Glessner, R. Pellegrino, C. Kim, K. Thomas, H. Hakonarson, AGP Consortium.. The impact of glutamate and gamma-aminobutyric acid receptor signaling in non-syndromic autism.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • J. J. Connolly, P. M. Sleiman, R. C. Gur, M. E. Calkins, D. J. Abrams, R. M. Chiavacci, H. Qiu, F. D. Mentch, R. E. Gur, H. Hakonarson.. Genome-wide association of executive function in a normally developing pediatric cohort. Poster presentation.. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • D. Li, A. Haghighi, F. Salehzade, L. Tian, H. Haghighi-Kakhki, C. Kim, E. Frackelton, F. Otieno, H.-D. Nah, H. Hakonarson.. Exome sequencing identifies a de novo missense mutation in TGF-ß1 in a sporadic patient with craniotubular bone dysplasia.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • C. Kim, P. M. A. Sleiman, L. Tien, S. Panossian, K. Xu, B. Tweddale, N. Abdel-Magid, E. Frackelton, Y. Housawi, H. Hakonarson. Exome sequencing identifies a missense mutation of ANKRD26 in autosomal dominant Thrombocytopenia.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • A. B. Santani, T. Tischler, A. Sasson, J. Perin, M. Sarmady, E. Frackelton, B. Tweddale, N. Abdel-Magid, S. Panossian, P. Warren, H. Feret, M. Deardorff, A. Wilkens, M. Italia, B. Ruth, J. Miller, E. Zackai, D. Monos, E. Rappaport, H. Hakonarson, P. White, C. Stolle.. A next generation sequencing assay for the diagnosis of the Noonan spectrum of disorders.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012. 2012.
    • B. S. Zemel, M. Li, S. Deliard, C. E. Kim, L. Qu, R. M. Chiavacci, J. M. Lappe, H. J. Kalkwarf, V. Gilsanz, H. Hakonarson, S. E. Oberfield, J. A. Shepherd, S. F. A. Grant.. The C7orf58 locus is strongly associated with both bone mineral content and density at the pediatric distal radius.. Poster presentation. ASHG, San Francisco, CA, Nov, 2012.. 2012.
    • Connolly JJ, Hakonarson H.. The impact of genomics on pediatric research and medicine.. Pediatrics. Vol 129(6) . 2012 Jun:1150-60.
    • Connolly JJ, Hakonarson H. Role of Cytokines in Systemic Lupus Erythematosus: Recent Progress from GWAS and Sequencing.. J Biomed Biotechnol. 2012 May.
    • Ferraro TN, Dlugos DJ, Hakonarson H, Buono RJ. Strategies for Studying the Epilepsy Genome.. In. Jasper's Basic Mechanisms of the Epilepsies. 4th edition; 2012.
    • Hakonarson H.. Ask the experts: pharmacogenomics and genome-wide association studies.. Pharmacogenomics. Vol 14(4) . 2013 Mar:365-8.
    • Hakonarson H.. Ask the experts: pharmacogenomics and genome-wide association studies.. Pharmacogenomics. Vol 14(4) . 2013 Mar:365-8.
    • March ME, Sleiman PM, Hakonarson H.. Genetic polymorphisms and associated susceptibility to asthma.. Int J Gen Med. 2013 Apr.
    • J. Glessner, J. Li, B. Chang, K. Thomas, R. Golhar, X. Chang, Y. Guo, D. Li, N. Abdel-Magid, C. Kao, Y. Li, J. Bradfield, C. Kim, C. Hou, F. Mentch, H. Qiu, C. Cardinale, M. Garris, L. Vazquez, D. Abrams, G. Otieno, T. Wang, R. Pellegrino da Silva, R. Chiavacci, J. Connolly, B. Keating, P. Sleiman, S. Grant, H. Hakonarson.. Rare Recurrent Homozygous Deletions in a Large Population Reveals High Penetrance Loss of Function Variants Underlying Rare Strong Phenotypes.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • R. Pandey, C. Cardinale, K. Kachelries, S. F. A. Grant, R. Baldassano, H. Hakonarson.. Functional characterization of DcR3 in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • C. Kim, Z. Wei, J. Glessner, K. Thomas, H. K. Åkerblom, M. Knip, H. Hakonarson, I. Ilonen.. A pilot T1D risk prediction study using custom panel and advanced multivariate predictive models.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • J. Connolly1, D. Li1, H. Hakonarson1, 2. Association of rare variants with anorexia nervosa by whole exome sequencing. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • T. L. Wenger, C. Kao, D. M. McDonald-McGinn, A. Bailey, R. T. Schultz, B. S. Emanuel, B. E. Morrow, E. H. Zackai, H. Hakonarson.. MGluR gene network alterations confer risk for Autism Spectrum Disorder in 22q11.2 Deletion Syndrome.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • R. Golhar, J. Liang, D. Li, C. Kao, Y. Guo, W. Chen, L. Tian, F. Wang, J. Synder, N. Abdel-Magid, L. Vazquez, B. Keating, J. Zhang, H. Hakonarson.. Exome sequencing of a familial trio with a suspected autosomal dominant idiopathic immune deficient syndrome identifies novel candidate mutations in the complement system and two other genes.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • L. Tian, J. Martignetti, L. Dong, M. Ramirez, O. Camacho, C. Camacho-Vanegas, Y. Guo, D. Zand, A. Bernstein, S. Masur, C. Kim, F. Otieno, C. Hou, N. Abdel-Magid, B. Tweddale, D. Metry, J. Fournet, E. Papp, E. McPherson, C. Zabel, G. Vaksmann, C. Morisot, B. Keating, P. Sleiman, J. Cleveland, D. Everman, D. Cho, Z. Li, E. Zackai, H. Hakonarson.. Mutations in PDGFRB and NOTCH3 as Causes of Autosomal Dominant Infantile Myofibromatosis.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • X. Chang, P. Sleiman, H. Hakonarson.. Genome-wide Association Study of serum minerals in pediatric African-American and Caucasian cohorts.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • R. Pellegrino, C. Kao, L. Vazquez, D. Hadley, A. Kini, J. Glessner, H. Hakonarson.. Application of customized CGH-array for mGluR genes in Attention Deficit/Hyperactivity Disorder (ADHD).. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • J. P. Bradfield, Z. Wei, C. Kim, R. Chiavacci, F. Mentch, W. Lo, M. R. Sperling, D. J. Dlugos, T. N. Ferraro, R. J. Buono, H. Hakonarson.. A genome wide association study of epilepsy in a multi-ethnic cohort.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • B. Keating, V. Tragante, M. Barnes, S. Ganesh, I. H. Gho, X. Zhu, D. Levy, H. Hakonarson, P. I. W. de Bakker, F. W. Asselbergs, P. B. Munroe, The IBC BP consortium.. Eleven novel loci influencing blood pressure.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • C. Kao, J. Liang, A. Alodaib, Y. Guo, L. Tian, X. Liu, L. Dai, B. Keating, M. Menezes, W. Gold, M. Wilson, L. Ades, J. Zhang, A. Kakakios, J. Wang, H. Hakonarson, J. Teo.. Whole exome sequencing uncovers mutations in MYH9 associated with expanded phenotype spectrum.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • C. Hensel, N. Matsunami, D. Hadley, G. B. Christensen, C. Kim, E. Frackelton, K. Thomas, R. Pellegrino da Silva, J. Stevens, L. Baird, B. Otterud, K. Ho, T. Varvil, T. Leppert, C. Lambert, M. Leppert, H. Hakonarson.. Identification of Rare Genetic Variants in High-Risk ASD Families and Their Role in a Large ASD Case/Control Population.. Platform Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • C. J. Cardinale, Z. Wei, J. Li, J. Zhu, R. N. Baldassano, H. Hakonarson.. Transcriptome profiling of human ulcerative colitis mucosa shows altered expression of pathways overlapping genome-wide association susceptibility loci.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • M. Bakay, M. Rankin, S. Yoeun, J. Kushner, H. Hakonarson.. Generation of CLEC16A inducible knockout mouse as a novel model to study the pivotal role of NK cells in the pathogenesis of Type 1 Diabetes.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • A. Sasson, J. P. Dormans, F. J. Salley, C. E. Kim, S. Deliard, J. Talarico, J. C. Perin, RM. Chiavacci, H. Hakonarson, S. F. A. Grant.. Whole exome sequencing of families with multiple cases of adolescent idiopathic scoliosis implicate novel mutations in FBN2, MESP2 and SNTG1.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • P. Sleiman, D. Wang, J. Glessner, D. Hadley, R. E. Gur, N. Cohen, Q. Li, H. Hakonarson, Janssen-CHOP Neuropsychiatric Genomics Working Group.. Meta analysis identifies TSNARE1 as novel Schizophrenia / Bipolar susceptibility locus.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • Y. R. Li, S. A. Shalev, J. Liang, Y. Guo, J. Zhang, B. J. Keating, Y. Chen, L. Tian, S. S. Vergano, X. Xu, H. Hakonarson, J. Wang, M. A. Deardorff.. Exome sequencing identifies loss of function mutations in UBE3B in a family with intellectual and developmental delay, hypotonia, distal digital hypoplasia, and hearing loss.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • D. Hadley, Z. Wu, C. Kao, A. Kini, A. Mohamed-Hadley, K. Thomas, L. Vazquez, H. Qiu, F. Mentch, R. Pellegrino, C. Kim, J. Glessner, H. Hakonarson, Autism Genome Project Consortium.. The impact of the metabotropic glutamate receptor and other gene family interaction networks on the autism spectrum disorders.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • Z. Wei, J. Li, W. Wang, H. Hakonarson.. A supervised dimension reduction approach for pathway-based analysis in Genome-wide association study.. Poster Presentation. ASHG, Boston, MA, Oct 2013. 2013.
    • B. Almoguera, J. Liang, P. Fernandez, M. Corton, Y. Guo, B. Keating, J. Zhang, H. Hakonarson, X. Xu, C. Ayuso.. A novel missense mutation in PRPS1 leads to PRS-I deficiency in females displaying retinitis pigmentosa and variable expression of a neurologic phenotype.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • M. E. March, P. M. A. Sleiman, C. Hou, J. Bradfield, C. E. Kim, J. T. Glessner, H. Hakonarson.. Regulation by the Asthma Susceptibility Gene DENND1B of Rab35 and TNFa signaling.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • D. Li, M. J. Falk, X. Gai, E. McCormick, E. Place, F. M. Lasorsa, F. G. Otieno, C. Hou, C. E. Kim, N. Abdel-Magid, L. Vazquez, F. D. Mentch, R. Chiavacci, G. Giannuzzi, E. D. Marsh, Y. Guo, L. Tian, F. Palmieri, H. Hakonarson.. SLC25A12 homozygous missense mutation reduces neuronal AGC1 activity to cause global developmental delay, intractable epilepsy, and reduced N-acetylaspartate in consanguineous.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • Y. Meng, J. Nemesh, D. Altshuler, EJ. Benjamin, E. Boerwinkle, D. Bowden, CWK. Chiang, M. Fornage, J. Glessner, A. Kutlar, G. Lettre, M. Li, S. Musani, G. Papanicolaou, S. Redline, A. Reiner, S. Rich, D. Siscovick, X. Zhu, H. Hakonarson, JG. Wilson, B. Keating, JN. Hirschhorn, SA. McCarroll.. CNP imputation using 1000 Genome Project data as reference panel and intensity based analysis of copy number variation in African Americans.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • J. Li, B. A. Ong, J. M. McDonough, Z. Wei, C. Kim, R. Chiavacci, F. Mentch, J. B. Caboot, J. Spergel, J. L. Allen, P. M. A. Sleiman, H. Hakonarson.. Gene Network Analysis with GWAS Data Identifies Novel Lung Function Gene Set.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • L. Vazquez, J. Liang, B. Almoguera, X. Liu, P. Fernandez, Y. Guo, M. Corton, B. Keating, X. Xu, C. Ayuso, H. Hakonarson, J. Wang.. Characterization of three families with provisional diagnosis of autosomal dominant retinitis pigmentosa using whole exome sequencing.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • Y. Guo, I. Prokudin, C. Yu, J. Liang, Y. Xie, M. Flaherty, L. Tian, S. Crofts, F. Wang, J. Snyder, C. Donaldson, N. Abdel-Magid, L. Vazquez, B. Keating, H. Hakonarson, J. Wang, R. Jamieson.. Value of whole exome sequencing for novel variant identification in Leber congenital amaurosis.. Poster Presentation. ASHG, Boston, MA, Oct 2013.. 2013.
    • Li YR, Levine JE, Hakonarson H, Keating BJ.. Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation.. Eur J Hum Genet.. Vol doi: 10.1038. 2013 Nov 20.
    • Cardinale CJ, Kelsen JR, Baldassano RN, Hakonarson H.. Impact of exome sequencing in inflammatory bowel disease.. World J Gastroenterol.. Vol 19(40) . 2013 Oct:6721-6729.
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    • Glessner Joseph T, Smith Albert Vernon, Panossian Saarene, Kim Cecilia E, Takahashi Nagahide, Thomas Kelly A, Wang Fengxiang, Seidler Kallyn, Harris Tamara B, Launer Lenore J, Keating Brendan, Connolly John, Sleiman Patrick M A, Buxbaum Joseph D, Grant Struan F A, Gudnason Vilmundur, Hakonarson Hakon. Copy number variations in alternative splicing gene networks impact lifespan.. PloS one. Vol 8(1) . 2013 Jan:e53846.
    • Gallant Emily, Francey Lauren, Fetting Heather, Kaur Maninder, Hakonarson Hakon, Clark Dinah, Devoto Marcella, Krantz Ian D. Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.. American journal of otolaryngology. Vol 34(3) . 2013 May-Jun:230-5.
    • Holton Patrick, Ryten Mina, Nalls Michael, Trabzuni Daniah, Weale Michael E, Hernandez Dena, Crehan Helen, Gibbs J Raphael, Mayeux Richard, Haines Jonathan L, Farrer Lindsay A, Pericak-Vance Margaret A, Schellenberg Gerard D, Ramirez-Restrepo Manuel, Engel Anzhelika, Myers Amanda J, Corneveaux Jason J, Huentelman Matthew J, Dillman Allissa, Cookson Mark R, Reiman Eric M, Singleton Andrew, Hardy John, Guerreiro Rita. Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.. Annals of human genetics. Vol 77(2) . 2013 Mar:85-105.
    • Matsunami Nori, Hadley Dexter, Hensel Charles H, Christensen G Bryce, Kim Cecilia, Frackelton Edward, Thomas Kelly, da Silva Renata Pellegrino, Stevens Jeff, Baird Lisa, Otterud Brith, Ho Karen, Varvil Tena, Leppert Tami, Lambert Christophe G, Leppert Mark, Hakonarson Hakon. Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.. PloS one. Vol 8(1) . 2013 Jan:e52239.
    • Cui Shuang, Leyva-Vega Melissa, Tsai Ellen A, EauClaire Steven F, Glessner Joseph T, Hakonarson Hakon, Devoto Marcella, Haber Barbara A, Spinner Nancy B, Matthews Randolph P. Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.. Gastroenterology. Vol 144(5) . 2013 May:1107-1115.e3.
    • Ganesh Santhi K, Tragante Vinicius, Guo Wei, Guo Yiran, Lanktree Matthew B, Smith Erin N, Johnson Toby, Castillo Berta Almoguera, Barnard John, Baumert Jens, Chang Yen-Pei Christy, Elbers Clara C, Farrall Martin, Fischer Mary E, Franceschini Nora, Gaunt Tom R, Gho Johannes M I H, Gieger Christian, Gong Yan, Isaacs Aaron, Kleber Marcus E, Mateo Leach Irene, McDonough Caitrin W, Meijs Matthijs F L, Mellander Olle, Molony Cliona M, Nolte Ilja M, Padmanabhan Sandosh, Price Tom S, Rajagopalan Ramakrishnan, Shaffer Jonathan, Shah Sonia, Shen Haiqing, Soranzo Nicole, van der Most Peter J, Van Iperen Erik P A, Van Setten Jessic A, Vonk Judith M, Zhang Li, Beitelshees Amber L, Berenson Gerald S, Bhatt Deepak L, Boer Jolanda M A, Boerwinkle Eric, Burkley Ben, Burt Amber, Chakravarti Aravinda, Chen Wei, Cooper-Dehoff Rhonda M, Curtis Sean P, Dreisbach Albert, Duggan David, Ehret Georg B, Fabsitz Richard R, Fornage Myriam, Fox Ervin, Furlong Clement E, Gansevoort Ron T, Hofker Marten H, Hovingh G Kees, Kirkland Susan A, Kottke-Marchant Kandice, Kutlar Abdullah, Lacroix Andrea Z, Langaee Taimour Y, Li Yun R, Lin Honghuang, Liu Kiang, Maiwald Steffi, Malik Rainer, Murugesan Gurunathan, Newton-Cheh Christopher, O'Connell Jeffery R, Onland-Moret N Charlotte, Ouwehand Willem H, Palmas Walter, Penninx Brenda W, Pepine Carl J, Pettinger Mary, Polak Joseph F, Ramachandran Vasan S, Ranchalis Jane, Redline Susan, Ridker Paul M, Rose Lynda M, Scharnag Hubert, Schork Nicholas J, Shimbo Daichi, Shuldiner Alan R, Srinivasan Sathanur R, Stolk Ronald P, Taylor Herman A, Thorand Barbara, Trip Mieke D, van Duijn Cornelia M, Verschuren W Monique, Wijmenga Cisca, Winkelmann Bernhard R, Wyatt Sharon, Young J Hunter, Boehm Bernhard O, Caulfield Mark J, Chasman Daniel I, Davidson Karina W, Doevendans Pieter A, Fitzgerald Garret A, Gums John G, Hakonarson Hakon, Hillege Hans L, Illig Thomas, Jarvik Gail P, Johnson Julie A, Kastelein John J P, Koenig Wolfgang, März Winfried, Mitchell Braxton D, Murray Sarah S, Oldehinkel Albertine J, Rader Daniel J, Reilly Muredach P, Reiner Alex P, Schadt Eric E, Silverstein Roy L, Snieder Harold, Stanton Alice V, Uitterlinden André G, van der Harst Pim, van der Schouw Yvonne T, Samani Nilesh J, Johnson Andrew D, Munroe Patricia B, de Bakker Paul I W, Zhu Xiaofeng, Levy Daniel, Keating Brendan J, Asselbergs Folkert W. Loci influencing blood pressure identified using a cardiovascular gene-centric array.. Human molecular genetics. Vol 22(8) . 2013 Apr:1663-78.
    • Glessner Joseph T, Li Jin, Hakonarson Hakon. ParseCNV integrative copy number variation association software with quality tracking.. Nucleic acids research. Vol 41(5) . 2013 Mar:e64.
    • Jackson EM, Shaikh TH, Zhang F, Wainwright LM, Storm PB, Hakonarson H, Zackai EH, Biegel JA.. Atypical Teratoid/Rhabdoid Tumor in a Patient with Beckwith-Wiedemann Syndrome.. Am J Med Genet A. 29 Jun:2007.
    • 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.. Association of Variants of the Interleukin-23 Receptor Gene With Susceptibility to Pediatric Crohn's Disease.. Clin Gastroenterol Hepatol. 5 Jul:2007.
    • Flory J and Hakonarson H. Genetics and the Community: Population-Based Genetics and Newborn Screening. The American Academy of Pediatrics. In Prress.