Joseph Glessner, PhD

Joseph Glessner, PhD, is the Associate Director of the Center for Applied Genomics at Children's Hospital of Philadelphia.

Appointments and referrals
215-590-2920

About Joseph Glessner, PhD

Titles

Associate Director, Center for Applied Genomics

Research Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Leadership and Memberships

Memberships in Professional Organizations

2012-present, American Association for the Advancement of Science
2011-present, American Society of Human Genetics
2006-present, Alpha Chi National Honor Society

Education & training

Undergraduate Degree

BS in Bioinformatics - University of the Sciences, Philadelphia, PA

Graduate Degree

PhD in Genomics and Computational Biology - University of Pennsylvania, Philadelphia, PA
MS in Bioinformatics - University of the Sciences, Philadelphia, PA

Fellowship

Postdoctoral Research Fellow - Massachusetts General Hospital, Center for Human Genetic Research, Boston, MA

Team affiliations

Genetics

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Publications

2022

Glazer AM, Davogustto G, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger EH, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A, Mosley JD, Van Driest SL, Wells QS, Shaffer LL, Kalash OR, Wada Y, Bland S, Yoneda ZT, Mitchell DW, Kroncke BM, Kullo IJ, Jarvik GP, Gordon AS, Larson EB, Manolio TA, Mirshahi T, Luo JZ, Schaid D, Namjou B, Alsaied T, Singh R, Singhal A, Liu C, Weng C, Hripcsak G, Ralston JD, McNally EM, Chung WK, Carrell DS, Leppig KA, Hakonarson H, Sleiman P, Sohn S, Glessner J; eMERGE Network, Denny J, Wei WQ, George AL Jr, Shoemaker MB, Roden DM.: Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation 145: 877-891, Mar 2022.

Chang X, Liu Y, Glessner J, Hou C, Qu H, Nguyen K, Sleiman P, Lee L, Diskin SJ, Maris JM, Hakonarson H.: Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma. J Natl Cancer Inst 114: 910-913, Jun 2022.

Chang X, March M, Mentch F, Nguyen K, Glessner J, Qu H, Liu Y, Furuta G, Aceves S, Gonsalves N, Nadeau K, Cianferoni A, Spergel J, Sleiman P, Hakonarson H.: A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci. J Allergy Clin Immunol 2022.

Liu Y, Qu HQ, Mentch FD, Qu J, Chang X, Nguyen K, Tian L, Glessner J, Sleiman PMA, Hakonarson H.: Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients. Mol Psychiatry 2022.

Qu HQ, Qu J, Glessner J, Hakonarson H.: Mendelian randomization study of obesity and type 2 diabetes in hospitalized COVID-19 patients. Metabolism 2022.

Qu HQ, Qu J, Glessner J, Liu Y, Mentch F, Chang X, March M, Li J, Roizen JD, Connolly JJ, Sleiman P, Hakonarson H.: Improved genetic risk scoring algorithm for type 1 diabetes prediction. Pediatr Diabetes 2022.

2021

Glessner JT, Hou X, Zhong C, Zhang J, Khan M, Brand F, Krawitz P, Sleiman PMA, Hakonarson H, Wei Z.: DeepCNV: a deep learning approach for authenticating copy number variations. Brief Bioinform Jan 2021.

Yao X, Glessner JT, Li J, Qi X, Hou X, Zhu C, Li X, March ME, Yang L, Mentch FD, Hain HS, Meng X, Xia Q, Hakonarson H, Li J.: Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders. Transl Psychiatry 11: 69, Jan 2021.

Glessner JT, Chang X, Liu Y, Li J, Khan M, Wei Z, Sleiman PMA, Hakonarson H.: MONTAGE: a new tool for high-throughput detection of mosaic copy number variation. BMC Genomics 22: 133, Feb 2021.

Liu Y, Chang X, Qu HQ, Tian L, Glessner J, Qu J, Li D, Qiu H, Sleiman P, Hakonarson H.: Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry. Genes (Basel) 12: 310, Feb 2021.

Liu Y, Qu HQ, Chang X, Tian L, Qu J, Glessner J, Sleiman PMA, Hakonarson H.: Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters. Int J Mol Sci 22: 3364, Mar 2021.

Chang X, Li Y, Nguyen K, Qu H, Liu Y, Glessner J, Sleiman PMA, Hakonarson H.: Genetic correlations between COVID-19 and a variety of traits and diseases. Innovation (N Y) 2: 100112, May 2021.

Qu HQ, Qu J, Dunn T, Snyder J, Miano TA, Connolly J, Glessner J, Anderson BJ, Reilly JP, Jones TK, Giannini HM, Agyekum RS, Weisman AR, Ittner CAG, Rodrigues LG, Kao C, Shashaty MGS, Sleiman P, Meyer NJ, Hakonarson H.: Elevation of Circulating LIGHT (TNFSF14) and Interleukin-18 Levels in Sepsis-Induced Multi-Organ Injuries. medRxiv May 2021.

Salehian-Dehkordi H, Xu YX, Xu SS, Li X, Luo LY, Liu YJ, Wang DF, Cao YH, Shen M, Gao L, Chen ZH, Glessner JT, Lenstra JA, Esmailizadeh A, Li MH, Lv FH.: Genome-Wide Detection of Copy Number Variations and Their Association With Distinct Phenotypes in the World's Sheep. Front Genet 12: 670582, May 2021.

Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium.: Neptune: an environment for the delivery of genomic medicine. Genet Med Jul 2021.

Liu Y, Qu HQ, Chang X, Nguyen K, Qu J, Tian L, Glessner J, Sleiman PM, Hakonarson H.: Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation. Exp Biol Med (Maywood) Jul 2021.

Qu HQ, Qu J, Bradfield J, Marchand L, Glessner J, Chang X, March M, Li J, Connolly JJ, Roizen JD, Sleiman P, Polychronakos C, Hakonarson H.: Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci. Commun Biol 4: 908, Jul 2021.

Huang X, Glessner JT, Huang J, Zhou D, March ME, Wang H, Xia Q, Hakonarson H, Li J.: Discovery of Novel Host Molecular Factors Underlying HBV/HCV Infection. Front Cell Dev Biol 9: 690882, Aug 2021.

Qu J, Qu HQ, Bradfield JP, Glessner JT, Chang X, Tian L, March M, Connolly JJ, Roizen JD, Sleiman PMA, Hakonarson H.: Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients. Sci Rep 11: 16013, Aug 2021.

Van Driest SL, Abul-Husn NS, Glessner JT, Bastarache L, Nirenberg S, Schildcrout JS, Eswarappa MS, Belbin GM, Shaffer CM, Mentch F, Connolly J, Shi M, Stein CM, Roden DM, Hakonarson H, Cox NJ, Borinstein SC, Mosley JD.: Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients. JAMA Intern Med 181: 1100-1105, Aug 2021.

COVID-19 Host Genetics Initiative.: Mapping the human genetic architecture of COVID-19. Nature 2021.

Meng X, Hou X, Wang P, Glessner JT, Qu HQ, March ME, Zhang S, Qi X, Zhu C, Nguyen K, Gao X, Li X, Liu Y, Zhou W, Zhang S, Li J, Sun Y, Yang J, Sleiman PMA, Xia Q, Hakonarson H, Li J.: Association of novel rare coding variants with juvenile idiopathic arthritis. Ann Rheum Dis 2021.

Qu HQ, Qu J, Bradfield J, Glessner J, Chang X, March M, Mentch FD, Roizen JD, Connolly JJ, Sleiman P, Hakonarson H.: Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction. Diabetes Obes Metab 2021.

Qu J, Qu HQ, Bradfield JP, Glessner JT, Chang X, Tian L, March ME, Roizen JD, Sleiman PM, Hakonarson H.: Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score. Metabolism 2021.

Strong A, Li D, Mentch F, Bedoukian E, Hartung EA, Meyers K, Skraban C, Wen J, Medne L, Glessner J, Watson D, Krantz I, Hakonarson H.: Ciliopathies: Coloring outside of the lines. Am J Med Genet A 2021.

2020

Glessner JT, Li J, Desai A, Palmer M, Kim D, Lucas AM, Chang X, Connolly JJ, Almoguera B, Harley JB, Jarvik GP, Ritchie MD, Sleiman PMA, Roden DM, Crosslin D, Hakonarson H.: CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. Int J Cardiol 298: 107-113, Jan 2020.

Glessner JT, Li J, Desai A, Palmer M, Kim D, Lucas AM, Chang X, Connolly JJ, Almoguera B, Harley JB, Jarvik GP, Ritchie MD, Sleiman PMA, Roden DM, Crosslin D, Hakonarson H. : CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. doi: 10.1016/j.ijcard.2019.07.058. Epub 2019 Jul 19. Int J Cardiol. 298(107-113): 107-113, Jan 2020.

Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, Connolly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, Bakay M, Cardinale C, Lemma M, Abrams D, Bridglall-Jhingoor A, Behr M, Harrison S, Otieno G, Thomas A, Wang F, Chiavacci R, Wu L, Hadley D, Goldmuntz E, Elia J, Maris J, Grundmeier R, Devoto M, Keating B, March M, Pellagrino R, Grant SFA, Sleiman PMA, Li M, Eichler EE, Hakonarson H.: Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nat Commun 11: 255, Jan 2020.

Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, Connolly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, Bakay M, Cardinale C, Lemma M, Abrams D, Bridglall-Jhingoor A, Behr M, Harrison S, Otieno G, Thomas A, Wang F, Chiavacci R, Wu L, Hadley D, Goldmuntz E, Elia J, Maris J, Grundmeier R, Devoto M, Keating B, March M, Pellagrino R, Grant SFA, Sleiman PMA, Li M, Eichler EE, Hakonarson H. : Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. doi: 10.1038/s41467-019-13624-1. Nat Commun. 11(1): 255, Jan 2020.

Chang X, Bakay M, Liu Y, Glessner J, Rathi KS, Hou C, Qu H, Vaksman Z, Nguyen K, Sleiman PMA, Diskin SJ, Maris JM, Hakonarson H.: Mitochondrial DNA haplogroups and susceptibility to neuroblastoma.doi: 10.1093/jnci/djaa024. Epub ahead of print. J Natl Cancer Inst. Feb 2020.

Liu Y, Chang X, Qu H, Glessner J, Tian L, Li D, Qiu H, Sleiman PMA, Hakonarson H.: Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children. Sci Rep 10: 15252, Sep 2020.

Liu Y, Chang X, Qu H, Glessner J, Tian L, Li D, Qiu H, Sleiman PMA, Hakonarson H. : Non-coding structural variation differentially impacts attention- deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children.doi: 10.1038/s41598-020-71307-0. Sci Rep. 10(1): 15252, Sep 2020.

So J, Ningappa M, Glessner J, Min J, Ashokkumar C, Ranganathan S, Higgs BW, Li D, Sun Q, Schmitt L, Biery AC, Dobrowolski S, Trautz C, Fuhrman L, Schwartz MC, Klena NT, Fusco J, Prasadan K, Adenuga M, Mohamed N, Yan Q, Chen W, Horne W, Dhawan A, Sharif K, Kelly D, Squires RH, Gittes GK, Hakonarson H, Morell V, Lo C, Subramaniam S, Shin D, Sindhi R.: Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality. Front Physiol 11: 538701, Oct 2020.

Chang X, Liu Y, Mentch F, Glessner J, Qu H, Nguyen K, Sleiman PMA, Hakonarson H.: Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans. Transl Psychiatry 10: 370, Nov 2020.

Chang X, Bakay M, Liu Y, Glessner J, Rathi KS, Hou C, Qu H, Vaksman Z, Nguyen K, Sleiman PMA, Diskin SJ, Maris JM, Hakonarson H.: Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma. J Natl Cancer Inst 112: 1259-1266, Dec 2020.

2019

Chang X, Qu H, Liu Y, Glessner J, Hou C, Wang F, Li J, Sleiman P, Hakonarson H. : Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa. doi: 10.1016/j.jpsychires.2019.01.021. Epub 2019 Jan 29. J Psychiatr Res. 113: 34-38, Jun 2019.

Liu Y, Chang X, Glessner J, Qu H, Tian L, Li D, Nguyen K, Sleiman PMA, Hakonarson H.: Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios. Front Genet 10: 819, Sep 2019.

Liu Y, Chang X, Glessner J, Qu H, Tian L, Li D, Nguyen K, Sleiman PMA, Hakonarson H. : Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios. doi: 10.3389/fgene.2019.00819. Front Genet. 10(819), Sep 2019.

eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium.: Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. Am J Hum Genet 105: 588-605, Sep 2019.

Chang X, Qu H, Liu Y, Glessner J, Hou C, Wang F, Li J, Sleiman P, Hakonarson H.: Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa. J Psychiatr Res 2019.

2018

Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ.: An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat Genet 50: 727-736, Apr 2018.

Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, et al: An analytical framework for whole- genome sequence association studies and its implications for autism spectrum disorder. doi: 10.1038/s41588-018-0107-y. Nat Genet. 50(5): 727-736, Apr 2018.

Willmes M, Ransom KM, Lewis LS, Denney CT, Glessner JJG, Hobbs JA.: IsoFishR: An application for reproducible data reduction and analysis of strontium isotope ratios (87Sr/86Sr) obtained via laser-ablation MC-ICP-MS. PLoS One 13: e0204519, Sep 2018.

2017

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, ... Glessner JT, et al: The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 49(1): 36-45, Jan 2017.

Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME.: Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol 18: 36, Mar 2017.

Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. : Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid humanÂ genome. doi: 10.1186/s13059-017-1158-6. Genome Biol. 18(1): 36, Mar 2017.

Chang X, Zhao Y, Hou C, Glessner J, McDaniel L, Diamond MA, Thomas K, Li J, Wei Z, Liu Y, Guo Y, Mentch FD, Qiu H, Kim C, Evans P, Vaksman Z, Diskin SJ, Attiyeh EF, Sleiman P, Maris JM, Hakonarson H.: Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. Nat Commun 8: 569, Sep 2017.

Chang X, Zhao Y, Hou C, Glessner J, McDaniel L, Diamond MA, Thomas K, Li J, Wei Z, Liu Y, Guo Y, Mentch FD, Qiu H, Kim C, Evans P, Vaksman Z, Diskin SJ, Attiyeh EF, Sleiman P, Maris JM, Hakonarson H. : Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. doi: 10.1038/s41467-017-00408-8. Nat Commun. 8(1): 569, Sep 2017.

Glessner JT, Li J, Wang D, March M, Lima L, Desai A, Hadley D, Kao C, Gur RE, Cohen N, Sleiman PMA, Li Q, Hakonarson H; Janssen-CHOP Neuropsychiatric Genomics Working Group.: Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. Genome Med 9: 106, Nov 2017.

Glessner JT, Li J, Wang D, March M, Lima L, Desai A, Hadley D, Kao C, Gur RE, Cohen N, Sleiman PMA, Li Q, Hakonarson H; Janssen-CHOP Neuropsychiatric Genomics Working Group. : Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. doi: 10.1186/s13073-017-0494-1. Genome Med. 9(1): 106, Nov 2017.

2016

Eerkens JW, Carlson T, Malhi RS, Blake J, Bartelink EJ, Barfod GH, Estes A, Garibay R, Glessner J, Greenwald AM, Lentz K, Li H, Marshall CK. : Isotopic and genetic analyses of a mass grave in central California: Implications for precontact hunter-gatherer warfare. doi: 10.1002/ajpa.22843.Epub 2015 Sep 2. Am J Phys Anthropol. 159(1): 116-25, Jan 2016.

Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H.: Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Hum Genomics 10: 5, Jan 2016.

Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H. : Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. doi: 10.1186/s40246-016-0060-8. Erratum for: Hum Genomics. Hum Genomics 10: 5, Jan 2016.

Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H. : Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. doi: 10.1186/s40246-016-0060-8. Hum Genomics. Jan 2016.

Finkel TH, Li J, Wei Z, Wang W, Zhang H, Behrens EM, Reuschel EL, Limou S, Wise C, Punaro M, Becker ML, Munro JE, FlatÃ¸ B, FÃ¸rre ÃËœ, Thompson SD, Langefeld CD, Glass DN, Glessner JT, Kim CE, Frackelton E, Shivers DK, Thomas KA, Chiavacci RM, Hou C, Xu K, Snyder J, Qiu H, Mentch F, Wang K, Winkler CA, Lie BA, Ellis JA, Hakonarson H. : Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility. doi: 10.1186/s12881-016-0285-3. BMC Med Genet. 17: 24, Mar 2016.

Finkel TH, Li J, Wei Z, Wang W, Zhang H, Behrens EM, Reuschel EL, Limou S, Wise C, Punaro M, Becker ML, Munro JE, Flatø B, Førre Ø, Thompson SD, Langefeld CD, Glass DN, Glessner JT, Kim CE, Frackelton E, Shivers DK, Thomas KA, Chiavacci RM, Hou C, Xu K, Snyder J, Qiu H, Mentch F, Wang K, Winkler CA, Lie BA, Ellis JA, Hakonarson H.: Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility. BMC Med Genet 17: 24, Mar 2016.

Lima Lde A, Feio-dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do Rosário MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, Simões SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H.: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Sci Rep 6: 22851, Mar 2016.

Gadelha A, Coleman J, Breen G, Mazzoti DR, Yonamine CM, Pellegrino R, Ota VK, Belangero SI, Glessner J, Sleiman P, Hakonarson H, Hayashi MA, Bressan RA. : Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity. doi: 10.1016/j.schres.2016.01.043. Epub 2016 Feb 2. Schizophr Res. 172(1-3): 60-7, Apr 2016.

Lima Lde A, Feio-Dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do RosÃ¡rio MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, SimÃµes SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H. : Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. doi: 10.1038/srep25861. Sci Rep. May 2016.

Lima Lde A, Feio-Dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do Rosário MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, Simões SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H.: Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Sci Rep 6: 25861, May 2016.

Lima Lde A, Feio-dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do RosÃ¡rio MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, SimÃµes SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H.: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. doi: 10.1038/srep25861. Erratum for: Sci Rep. Sci Rep. 6: 25861, May 2016.

Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, Chinn IK, Monaco-Shawver L, Heimall J, Hou C, Otieno FG, Jyonouchi S, Calabrese L, van Montfrans J, Orange JS, Hakonarson H. : Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. doi: 10.1016/j.jaci.2016.01.018. Epub 2016 Mar 23. J Allergy Clin Immunol. 138(2): 544-550. e4, Aug 2016.

Thapar A, Martin J, Mick E, Arias VÃ¡squez A, Langley K, Scherer SW, Schachar R, Crosbie J, Williams N, Franke B, Elia J, Glessner J, Hakonarson H, Owen MJ, Faraone SV, O'Donovan MC, Holmans P. : Psychiatric gene discoveries shape evidence on ADHD's biology. doi: 10.1038/mp.2015.163. Epub 2015 Nov 17. Mol Psychiatry. 21(9): 1202-7, Sep 2016.

Eerkens JW, Carlson T, Malhi RS, Blake J, Bartelink EJ, Barfod GH, Estes A, Garibay R, Glessner J, Greenwald AM, Lentz K, Li H, Marshall CK.: Isotopic and genetic analyses of a mass grave in central California: Implications for precontact hunter-gatherer warfare. Am J Phys Anthropol 2016.

Gadelha A, Coleman J, Breen G, Mazzoti DR, Yonamine CM, Pellegrino R, Ota VK, Belangero SI, Glessner J, Sleiman P, Hakonarson H, Hayashi MA, Bressan RA.: Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity. Schizophr Res 2016.

Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, Chinn IK, Monaco-Shawver L, Heimall J, Hou C, Otieno FG, Jyonouchi S, Calabrese L, van Montfrans J, Orange JS, Hakonarson H.: Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. J Allergy Clin Immunol 2016.

Kim D, Lucas A, Glessner J, Verma SS, Bradford Y, Li R, Frase AT, Hakonarson H, Peissig P, Brilliant M, Ritchie MD.: BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN. Pac Symp Biocomput 2016.

Kim D, Lucas A, Glessner J, Verma SS, Bradford Y, Li R, Frase AT, Hakonarson H, Peissig P, Brilliant M, Ritchie MD. : BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN. Pac Symp Biocomput. 21: 357-68, 2016.

Thapar A, Martin J, Mick E, Arias Vásquez A, Langley K, Scherer SW, Schachar R, Crosbie J, Williams N, Franke B, Elia J, Glessner J, Hakonarson H, Owen MJ, Faraone SV, O'Donovan MC, Holmans P.: Psychiatric gene discoveries shape evidence on ADHD's biology. Mol Psychiatry 2016.

2015

Mitchell LE, Agopian AJ, Bhalla A, Glessner JT, Kim CE, Swartz MD, Hakonarson H, Goldmuntz E.: Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations. Hum Mol Genet 24: 265-73, Jan 2015.

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

Li J, JÃ¸rgensen SF, Maggadottir SM, Bakay M, Warnatz K, Glessner J, Pandey R, Salzer U, Schmidt RE, Perez E, Resnick E, Goldacker S, Buchta M, Witte T, Padyukov L, Videm V, Folseraas T, Atschekzei F, Elder JT, Nair RP, Winkelmann J, Gieger C, NÃ¶then MM, BÃ¼ning C, Brand S, Sullivan KE, Orange JS, Fevang B, Schreiber S, Lieb W, Aukrust P, Chapel H, Cunningham-Rundles C, Franke A, Karlsen TH, Grimbacher B, Hakonarson H, HammarstrÃ¶m L, Ellinghaus E. : Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. doi: 10.1038/ncomms7804. Nat Commun. 6: 6804, Apr 2015.

Li J, Jørgensen SF, Maggadottir SM, Bakay M, Warnatz K, Glessner J, Pandey R, Salzer U, Schmidt RE, Perez E, Resnick E, Goldacker S, Buchta M, Witte T, Padyukov L, Videm V, Folseraas T, Atschekzei F, Elder JT, Nair RP, Winkelmann J, Gieger C, Nöthen MM, Büning C, Brand S, Sullivan KE, Orange JS, Fevang B, Schreiber S, Lieb W, Aukrust P, Chapel H, Cunningham-Rundles C, Franke A, Karlsen TH, Grimbacher B, Hakonarson H, Hammarström L, Ellinghaus E.: Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. Nat Commun 6: 6804, Apr 2015.

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

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

Sturrock AM, Wikert JD, Heyne T, Mesick C, Hubbard AE, Hinkelman TM, Weber PK, Whitman GE, Glessner JJ, Johnson RC.: Reconstructing the Migratory Behavior and Long-Term Survivorship of Juvenile Chinook Salmon under Contrasting Hydrologic Regimes. PLoS One 10: e0122380, May 2015.

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

Dajani R, Li J, Wei Z, Glessner JT, Chang X, Cardinale CJ, Pellegrino R, Wang T, Hakooz N, Khader Y, Sheshani A, Zandaki D, Hakonarson H.: CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations. Sci Rep 5: 13391, Aug 2015.

Li J, Fung I, Glessner JT, Pandey R, Wei Z, Bakay M, Mentch FD, Pellegrino R, Wang T, Kim C, Hou C, Wang F, Chiavacci RM, Thomas KA, Spergel JM, Hakonarson H, Sleiman PM.: Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy. J Immunol 195: 1599-607, Aug 2015.

Li J, Fung I, Glessner JT, Pandey R, Wei Z, Bakay M, Mentch FD, Pellegrino R, Wang T, Kim C, Hou C, Wang F, Chiavacci RM, Thomas KA, Spergel JM, Hakonarson H, Sleiman PM. : Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy. doi: 10.4049/jimmunol.1402310. Epub 2015 Jul 17. J Immunol. 195(4): 1599-607, Aug 2015.

Connolly JJ, Glessner JT, Elia J, Hakonarson H.: ADHD & Pharmacotherapy: Past, Present and Future: A Review of the Changing Landscape of Drug Therapy for Attention Deficit Hyperactivity Disorder. doi: 10.1177/2168479015599811. Ther Innov Regul Sci. 49(5): 632-642, Sep 2015.

Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, ... Glessner JT, et al: Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. doi: 10.1038/nm.3933. Epub 2015 Aug 24. Nat Med. 21(9): 1018-27, Sep 2015.

Ningappa M, So J, Glessner J, Ashokkumar C, Ranganathan S, Min J, Higgs BW, Sun Q, Haberman K, Schmitt L, Vilarinho S, Mistry PK, Vockley G, Dhawan A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R.: The Role of ARF6 in Biliary Atresia. PLoS One 10: e0138381, Sep 2015.

Ningappa M, So J, Glessner J, Ashokkumar C, Ranganathan S, Min J, Higgs BW, Sun Q, Haberman K, Schmitt L, Vilarinho S, Mistry PK, Vockley G, Dhawan A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R. : The Role of ARF6 in Biliary Atresia. doi: 10.1371/journal.pone.0138381. PLoS One. 10(9): e0138381, Sep 2015.

Li YR, Zhao SD, Li J, Bradfield JP, Mohebnasab M, Steel L, ... Glessner JT, et al: Genetic sharing and heritability of paediatric age of onset autoimmune diseases. doi: 10.1038/ncomms9442. Nat Commun. 6: 8442, Oct 2015.

Li YR, Zhao SD, Li J, Bradfield JP, Mohebnasab M, Steel L, ... Glessner JT, et al: Genetic sharing and heritability of paediatric age of onset autoimmune diseases. Nat Commun 6: 8442, Oct 2015.

Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H.: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Hum Genomics 9: 31, Nov 2015.

Chang X, Glessner J, Tin A, Li J, Guo Y, Wei Z, Liu Y, Mentch FD, Hou C, Zhao Y, Wang T, Qiu H, Kim C, Sleiman PM, Hakonarson H.: Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children. Sci Rep 5: 18792, Dec 2015.

Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, ... Glessner JT, et al: Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. Nat Med 2015.

Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H.: Rare variants at 16p11.2 are associated with common variable immunodeficiency. J Allergy Clin Immunol 2015.

2014

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

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

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

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

Agopian AJ, Mitchell LE, Glessner J, Bhalla AD, Sewda A, Hakonarson H, Goldmuntz E.: Genome-wide association study of maternal and inherited loci for conotruncal heart defects. PLoS One 9: e96057, May 2014.

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

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

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

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

Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK, Shen Y. : CANOES: detecting rare copy number variants from whole exome sequencing data. doi: 10.1093/nar/gku345. Epub 2014 Apr 25. Nucleic Acids Res. 42(12): e97, Jul 2014.

Karayannis T, Au E, Patel JC, Kruglikov I, Markx S, Delorme R, HÃ©ron D, Salomon D, Glessner J, Restituito S, Gordon A, Rodriguez-Murillo L, Roy NC, Gogos JA, Rudy B, Rice ME, Karayiorgou M, Hakonarson H, Keren B, Huguet G, Bourgeron T, Hoeffer C, Tsien RW, Peles E, Fishell G. : Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission. doi: 10.1038/nature13248. Nature 511(7508): 236-40, Jul 2014.

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

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

Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.: Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res 115: 884-896, Oct 2014.

Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK. : Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9. Circ Res. 115(10): 884-896, Oct 2014.

Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK, Shen Y.: CANOES: detecting rare copy number variants from whole exome sequencing data. Nucleic Acids Res 2014.

Keller M, Glessner J, Resnick E, Perez E, Chapel H, Lucas M, Sullivan KE, Cunningham-Rundles C, Orange JS, Hakonarson H.: Burden of copy number variation in common variable immunodeficiency. Clin Exp Immunol 2014.

White PS, Xie HM, Werner P, Glessner J, Latney B, Hakonarson H, Goldmuntz E.: Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions. Birth Defects Res A Clin Mol Teratol 2014.

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

2013

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

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

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

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

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

Glessner JT, Li J, Hakonarson H.: ParseCNV integrative copy number variation association software with quality tracking. Nucleic Acids Res 41: e64, Mar 2013.

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

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

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

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

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP.: De novo mutations in histone-modifying genes in congenital heart disease. Nature 498: 220-3, Jun 2013.

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, ... Glessner JT, et al: De novo mutations in histone-modifying genes in congenital heart disease. doi: 10.1038/nature12141. Epub 2013 May 12. Nature. 498(7453): 220-3, Jun 2013.

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

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

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

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

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

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

Connolly JJ, Glessner JT, Hakonarson H.: A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. Child Dev 2013.

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

Li WD, Jiao H, Wang K, Zhang CK, Glessner JT, Grant SF, Zhao H, Hakonarson H, Arlen Price R.: A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls. Obesity (Silver Spring) 2013.

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

Yang TL, Guo Y, Shen H, Li J, Glessner JT, Qiu C, Deng FY, Tian Q, Yu P, Liu YZ, Liu YJ, Hakonarson H, Grant SF, Deng HW.: Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study. J Clin Endocrinol Metab 2013.

2012

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

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

Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, GÃ¼nel M, State MW. : Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. doi: 10.1016/j.biopsych.2011.09.034. Epub 2011 Dec 14. Biol Psychiatry. 71(5): 392-402, Mar 2012.

Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW.: Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry 71: 392-402, Mar 2012.

Saxena R, Elbers CC, Guo Y, Peter I, Gaunt TR, Mega JL,... Glessner JT, et al: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. doi:10.1016/j.ajhg.2011.12.022. Epub 2012 Feb 9. Am J Hum Genet. 90(3): 410-25, Mar 2012 Notes: Erratum in: Am J Hum Genet. 2012 Apr 6;90(4):753. Sever, Peter [added]; Poulter, Neil [added] Bhatt, Deepak [corrected to Bhatt, Deepak L]; Asselbergs, Folkert [corrected to Asselbergs, Folkert W].

Saxena R, Elbers CC, Guo Y, Peter I, Gaunt TR, Mega JL, ... Glessner JT, et al: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet 90: 410-25, Mar 2012.

Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, ... Glessner JT, et al: A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. doi: 10.1007/s00439-011-1094-6. Epub 2011 Oct 14. Hum Genet. 131(4): 565-79, Apr 2012.

Wang K, Zhang H, Mentch FD, Bradfield JP, Glessner JT, Qiu H, Guo Y, Hou C, Frackelton EC, Thomas K, Bender A, Albano A, Otieno G, Garris M, Seidler K, Moy A, Kim CE, Keating B, Chiavacci RM, Grundmeier R, Sleiman PA, Grant SF, Hakonarson H. : Examination of genetic variants influencing lipid traits in pediatric populations. doi: 10.3233/PGE-2012-016. J Pediatr Genet. 1(2): 85-98, Jun 2012.

Williams AL, Patterson N, Glessner J, Hakonarson H, Reich D.: Phasing of many thousands of genotyped samples. Am J Hum Genet 91: 238-51, Aug 2012.

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

Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, ... Glessner JT, et al: Individual common variants exert weak effects on the risk for autism spectrum disorders. doi: 10.1093/hmg/dds301. Epub 2012 Jul 26. Hum Mol Genet. 21(21): 4781-92, Nov 2012.

Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, ... Glessner JT, et al: Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 21: 4781-92, Nov 2012.

Glessner JT, Connolly JJ, Hakonarson H.: Rare genomic deletions and duplications and their role in neurodevelopmental disorders. Curr Top Behav Neurosci 2012.

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

Wang K, Zhang H, Mentch FD, Bradfield JP, Glessner JT, Qiu H, Guo Y, Hou C, Frackelton EC, Thomas K, Bender A, Albano A, Otieno G, Garris M, Seidler K, Moy A, Kim CE, Keating B, Chiavacci RM, Grundmeier R, Sleiman PA, Grant SF, Hakonarson H.: Examination of genetic variants influencing lipid traits in pediatric populations. J Pediatr Genet 2012.

2011

Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, et al: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. doi: 10.1016/j.ajhg.2010.11.007. Epub 2010 Dec 30. Am J Hum Genet. 88(1): 6-18, Jan 2011 Notes: Erratum in: Am J Hum Genet. 2012 Jun 8;90(6):1117. Tomaszweski, Maciej [corrected to Tomaszewski, Maciej].

Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, et al.: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet 88: 6-18, Jan 2011.

Wang K, Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, Schnepp RW, Diamond M, Bosse K, Mayes PA, Glessner J, Kim C, Frackelton E, Garris M, Wang Q, Glaberson W, Chiavacci R, Nguyen L, Jagannathan J, Saeki N, Sasaki H, Grant SF, Iolascon A, Mosse YP, Cole KA, Li H, Devoto M, McGrady PW, London WB, Capasso M, Rahman N, Hakonarson H, Maris JM.: Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature 469: 216-20, Jan 2011.

Wang K, Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, Schnepp RW, Diamond M, Bosse K, Mayes PA, Glessner J, Kim C, Frackelton E, Garris M, Wang Q, Glaberson W, Chiavacci R, Nguyen L, Jagannathan J, Saeki N, Sasaki H, Grant SF, Iolascon A, Mosse YP, Cole KA, Li H, Devoto M, McGrady PW, London WB, Capasso M, Rahman N, Hakonarson H, Maris JM. : Integrative genomics identifies LMO1 as a neuroblastoma oncogene. doi: 10.1038/nature09609. Epub 2010 Dec 1. Nature. 469(7329): 216-20, Jan 2011.

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

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

Wang K, Li WD, Zhang CK, Wang Z, Glessner JT, Grant SF, Zhao H, Hakonarson H, Price RA.: A genome-wide association study on obesity and obesity-related traits. PLoS One 6: e18939, Apr 2011.

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

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

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

Zhu X, Young JH, Fox E, Keating BJ, Franceschini N, Kang S, Tayo B, Adeyemo A, Sun YV, Li Y, Morrison A, Newton-Cheh C, Liu K, Ganesh SK, Kutlar A, Vasan RS, Dreisbach A, Wyatt S, Polak J, Palmas W, Musani S, Taylor H, Fabsitz R, Townsend RR, Dries D, Glessner J, Chiang CW, Mosley T, Kardia S, Curb D, Hirschhorn JN, Rotimi C, Reiner A, Eaton C, Rotter JI, Cooper RS, Redline S, Chakravarti A, Levy D.: Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. Hum Mol Genet 20: 2285-95, Jun 2011.

Zhu X, Young JH, Fox E, Keating BJ, Franceschini N, Kang S, Tayo B, Adeyemo A, Sun YV, Li Y, Morrison A, Newton-Cheh C, Liu K, Ganesh SK, Kutlar A, Vasan RS, Dreisbach A, Wyatt S, Polak J, Palmas W, Musani S, Taylor H, Fabsitz R, Townsend RR, Dries D, Glessner J, Chiang CW, Mosley T, Kardia S, Curb D, Hirschhorn JN, Rotimi C, Reiner A, Eaton C, Rotter JI, Cooper RS, Redline S, Chakravarti A, Levy D. : Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. doi: 10.1093/hmg/ddr113. Epub 2011 Mar 21. Hum Mol Genet. 20(11): 2285-95, Jun 2011.

Hinch AG, Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, ... Glessner JT, et al: The landscape of recombination in African Americans. Nature 476: 170-5, Jul 2011.

Hinch AG, Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, ... Glessner JT, et al: The landscape of recombination in African Americans. doi: 10.1038/nature10336. Nature. 476(7359): 170-5, Jul 2011.

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

International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CC, ... Glessner JT, et al: Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. doi: 10.1038/nature10251. Nature. 476(7359): 214-9, Aug 2011.

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

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

Bradfield JP, Qu HQ, Wang K, Zhang H, Sleiman PM, Kim CE, Mentch FD, Qiu H, Glessner JT, Thomas KA, Frackelton EC, Chiavacci RM, Imielinski M, Monos DS, Pandey R, Bakay M, Grant SF, Polychronakos C, Hakonarson H.: A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. PLoS Genet 2011.

Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, et al: Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. doi: 10.1038/ng.1013. Nat Genet. 44(1): 78-84, Dec 2011.

Glessner JT, Hakonarson H.: Genome-wide association: from confounded to confident. Neuroscientist 2011.

Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH.: Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis 2011.

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

Nguyen le B, Diskin SJ, Capasso M, Wang K, Diamond MA, Glessner J, Kim C, Attiyeh EF, Mosse YP, Cole K, Iolascon A, Devoto M, Hakonarson H, Li HK, Maris JM.: Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci. PLoS Genet 2011.

Orange JS, Glessner JT, Resnick E, Sullivan KE, Lucas M, Ferry B, Kim CE, Hou C, Wang F, Chiavacci R, Kugathasan S, Sleasman JW, Baldassano R, Perez EE, Chapel H, Cunningham-Rundles C, Hakonarson H.: Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol 2011.

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

Zhao J, Bradfield JP, Zhang H, Sleiman PM, Kim CE, Glessner JT, Deliard S, Thomas KA, Frackelton EC, Li M, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF.: Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans. Obesity (Silver Spring) 2011.

Zhao J, Bradfield JP, Zhang H, Sleiman PM, Kim CE, Glessner JT, Deliard S, Thomas KA, Frackelton EC, Li M, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. : Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans. doi: 10.1038/oby.2011.237. Epub 2011 Jul 21. Obesity 19(12): 2463-9, Dec 2011.

2010

Sleiman PM, Flory J, Imielinski M, Bradfield JP, Annaiah K, Willis-Owen SA, Wang K, Rafaels NM, Michel S, Bonnelykke K, Zhang H, Kim CE, Frackelton EC, Glessner JT, Hou C, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson WR, Garris M, Chiavacci RM, Beaty TH, Ruczinski I, Orange JS, Allen J, Spergel JM, Grundmeier R, Mathias RA, Christie JD, von Mutius E, Cookson WO, Kabesch M, Moffatt MF, Grunstein MM, Barnes KC, Devoto M, Magnusson M, Li H, Grant SF, Bisgaard H, Hakonarson H.: Variants of DENND1B associated with asthma in children. N Engl J Med 362: 36-44, Jan 2010.

Sleiman PM, Flory J, Imielinski M, Bradfield JP, Annaiah K, Willis-Owen SA, ... Glessner JT, et al: Variants of DENND1B associated with asthma in children. doi: 10.1056/NEJMoa0901867. Epub 2009 Dec 23. N Engl J Med. 362(1): 36-44, Jan 2010 Notes: Erratum in: N Engl J Med. 2010 Sep 2;363(10):994. Erratum in: N Engl J Med. 2012 Feb 16;366(7):672. Orange, Jordan M [corrected to Orange, Jordan S].

Huang F, Chakraborty P, Lundstrom CC, Holmden C, Glessner JJ, Kieffer SW, Lesher CE.: Isotope fractionation in silicate melts by thermal diffusion. Nature 464: 396-400, Mar 2010.

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

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

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

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

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

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

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

Wang K, Baldassano R, Zhang H, Qu HQ, Imielinski M, Kugathasan S, Annese V, Dubinsky M, Rotter JI, Russell RK, Bradfield JP, Sleiman PM, Glessner JT, Walters T, Hou C, Kim C, Frackelton EC, Garris M, Doran J, Romano C, Catassi C, Van Limbergen J, Guthery SL, Denson L, Piccoli D, Silverberg MS, Stanley CA, Monos D, Wilson DC, Griffiths A, Grant SF, Satsangi J, Polychronakos C, Hakonarson H.: Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Hum Mol Genet 19: 2059-67, May 2010.

Wang K, Baldassano R, Zhang H, Qu HQ, Imielinski M, Kugathasan S, Annese V, Dubinsky M, Rotter JI, Russell RK, Bradfield JP, Sleiman PM, Glessner JT, Walters T, Hou C, Kim C, Frackelton EC, Garris M, Doran J, Romano C, Catassi C, Van Limbergen J, Guthery SL, Denson L, Piccoli D, Silverberg MS, Stanley CA, Monos D, Wilson DC, Griffiths A, Grant SF, Satsangi J, Polychronakos C, Hakonarson H. : Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. doi: 10.1093/hmg/ddq078. Epub 2010 Feb 22. Hum Mol Genet. 19(10): 2059-67, May 2010.

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

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

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

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

Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, ... Glessner JT, et al: Functional impact of global rare copy number variation in autism spectrum disorders. doi: 10.1038/nature09146. Epub 2010 Jun 9. Nature. 466(7304): 368-72, Jul 2010.

Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, ... Glessner JT, et al: Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-72, Jul 2010.

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

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

Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, ... Glessner JT, et al.: A genome-wide scan for common alleles affecting risk for autism. doi: 10.1093/hmg/ddq307. Epub 2010 Jul 27. Hum Mol Genet. 19(20): 4072-82, Oct 2010.

Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, ... Glessner JT, et al.: A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19: 4072-82, Oct 2010.

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

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

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

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

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

Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS.: Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 2010.

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

Lantieri F, Glessner JT, Hakonarson H, Elia J, Devoto M.: Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum. Am J Med Genet B Neuropsychiatr Genet 2010.

Rothenberg ME, Spergel JM, Sherrill JD, Annaiah K, Martin LJ, Cianferoni A, Gober L, Kim C, Glessner J, Frackelton E, Thomas K, Blanchard C, Liacouras C, Verma R, Aceves S, Collins MH, Brown-Whitehorn T, Putnam PE, Franciosi JP, Chiavacci RM, Grant SF, Abonia JP, Sleiman PM, Hakonarson H.: Common variants at 5q22 associate with pediatric eosinophilic esophagitis. Nat Genet 2010.

Wang K, Li WD, Glessner JT, Grant SF, Hakonarson H, Price RA.: Large copy-number variations are enriched in cases with moderate to extreme obesity. Diabetes 2010.

Zhao J, Bradfield JP, Zhang H, Annaiah K, Wang K, Kim CE, Glessner JT, Frackelton EC, Otieno FG, Doran J, Thomas KA, Garris M, Hou C, Chiavacci RM, Li M, Berkowitz RI, Hakonarson H, Grant SF.: Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI. Diabetes 2010.

2009

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

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

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

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

Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, et al: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-73, May 2009.

Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, et al: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. doi: 10.1038/nature07953. Epub 2009 Apr 28. Nature. 459(7246): 569-73, May 2009.

Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, et al: Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459: 528-33, May 2009.

Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, et al: Common genetic variants on 5p14.1 associate with autism spectrum disorders. doi: 10.1038/nature07999. Epub 2009 Apr 28. PMID: Nature. 459(7246): 528-33, May 2009.

Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. : Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. doi: 10.1371/journal.pgen.1000536. Epub 2009 Jun 26. PLoS Genet. 5(6): e1000536, Jun 2009.

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

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

Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Mossé YP, Wood A, Lynch JE, Pecor K, Diamond M, Winter C, Wang K, Kim C, Geiger EA, McGrady PW, Blakemore AI, London WB, Shaikh TH, Bradfield J, Grant SF, Li H, Devoto M, Rappaport ER, Hakonarson H, Maris JM.: Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459: 987-91, Jun 2009.

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

Flory JH, Sleiman PM, Christie JD, Annaiah K, Bradfield J, Kim CE, Glessner J, Imielinski M, Li H, Frackelton EC, Cuiping H, Otieno G, Thomas K, Smith R, Glaberson W, Garris M, Chiavacci R, Allen J, Spergel J, Grundmeier R, Grunstein M, Magnusson M, Grant SF, BÃ¸nnelykke K, Bisgaard H, Hakonarson H. : 17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry. doi: 10.1016/j.jaci.2009.05.047. Epub 2009 Aug 5. J Allergy Clin Immunol. 124(3): 605-7, Sep 2009.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. : High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10. Genome Res. 19(9): 1682-90, Sep 2009.

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

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

Attiyeh EF, Diskin SJ, Attiyeh MA, Mossé YP, Hou C, Jackson EM, Kim C, Glessner J, Hakonarson H, Biegel JA, Maris JM.: Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. Genome Res 2009.

Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H.: Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009.

Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, Mosse YP, Kim C, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Garris M, McConville C, London WB, Seeger RC, Grant SF, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM.: Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet 2009.

Flory JH, Sleiman PM, Christie JD, Annaiah K, Bradfield J, Kim CE, Glessner J, Imielinski M, Li H, Frackelton EC, Cuiping H, Otieno G, Thomas K, Smith R, Glaberson W, Garris M, Chiavacci R, Allen J, Spergel J, Grundmeier R, Grunstein M, Magnusson M, Grant SF, Bønnelykke K, Bisgaard H, Hakonarson H.: 17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry. J Allergy Clin Immunol 2009.

Glessner JT, Hakonarson H.: Common variants in polygenic schizophrenia. Genome Biol 2009.

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

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

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

Grant SF, Petri M, Bradfield JP, Kim CE, Santa E, Annaiah K, Frackelton EC, Glessner JT, Otieno FG, Shaner JL, Smith RM, Eckert AW, Chiavacci RM, Imielinski M, Sullivan KE, Hakonarson H. : Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry. doi: 10.2147/tacg.s4089. Appl Clin Genet. 2: 1-5, Dec 2009.

Grant SF, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Skraban R, Imielinski M, Chiavacci RM, Grundmeier RW, Stanley CA, Kirsch SE, Waggott D, Paterson AD, Monos DS; DCCT/EDIC Research Group, Polychronakos C, Hakonarson H.: Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes 2009.

Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE, Bradfield JP, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Chiavacci RM, Nah HD, Kirschner RE, Hakonarson H.: A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr 2009.

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

Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, ... Glessner JT, et al: Common variants at five new loci associated with early-onset inflammatory bowel disease. doi: 10.1038/ng.489. Epub 2009 Nov 15. Nat Genet. 41(12): 1335-40, Dec 2009.

Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB.: SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat 2009.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H.: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009.

Wang K, Zhang H, Kugathasan S, Annese V, Bradfield JP, Russell RK, Sleiman PM, Imielinski M, Glessner J, Hou C, Wilson DC, Walters T, Kim C, Frackelton EC, Lionetti P, Barabino A, Van Limbergen J, Guthery S, Denson L, Piccoli D, Li M, Dubinsky M, Silverberg M, Griffiths A, Grant SF, Satsangi J, Baldassano R, Hakonarson H.: Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. Am J Hum Genet 2009.

Wei Z, Wang K, Qu HQ, Zhang H, Bradfield J, Kim C, Frackleton E, Hou C, Glessner JT, Chiavacci R, Stanley C, Monos D, Grant SF, Polychronakos C, Hakonarson H.: From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes. PLoS Genet 2009.

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

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

Zhao J, Li M, Bradfield JP, Wang K, Zhang H, Sleiman P, Kim CE, Annaiah K, Glaberson W, Glessner JT, Otieno FG, Thomas KA, Garris M, Hou C, Frackelton EC, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF.: Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes 2009.

2008

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

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

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

Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole KA, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SF, Li H, Hakonarson H.: Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med 358: 2585-93, Jun 2008.

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

Behrens EM, Finkel TH, Bradfield JP, Kim CE, Linton L, Casalunovo T, Frackelton EC, Santa E, Otieno FG, Glessner JT, Chiavacci RM, Grant SF, Hakonarson H. : Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis. doi: 10.1002/art.23603. Arthritis Rheum. 58(7): 2206-7, Jul 2008.

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

Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, et al : Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. doi: 10.1371/journal.pone.0003583. Epub 2008 Oct 31. PLoS One. 3(10): e3583, Oct 2008.

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

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

Behrens EM, Finkel TH, Bradfield JP, Kim CE, Linton L, Casalunovo T, Frackelton EC, Santa E, Otieno FG, Glessner JT, Chiavacci RM, Grant SF, Hakonarson H.: Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis. Arthritis Rheum 2008.

Diskin SJ, Li M, Hou C, Yang S, Glessner J, Hakonarson H, Bucan M, Maris JM, Wang K.: Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res 2008.

Hakonarson H, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Onyiah CC, Skraban R, Chiavacci RM, Robinson LJ, Stanley CA, Kirsch SE, Devoto M, Monos DS, Grant SF, Polychronakos C.: A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes 2008.

Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, et al: Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One 2008.

Kugathasan S, Baldassano RN, Bradfield JP, Sleiman PM, Imielinski M, Guthery SL, Cucchiara S, Kim CE, Frackelton EC, Annaiah K, Glessner JT, Santa E, Willson T, Eckert AW, Bonkowski E, Shaner JL, Smith RM, Otieno FG, Peterson N, Abrams DJ, Chiavacci RM, Grundmeier R, Mamula P, Tomer G, Piccoli DA, Monos DS, Annese V, Denson LA, Grant SF, Hakonarson H.: Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet 2008.

Sindhi R, Higgs BW, Weeks DE, Ashokkumar C, Jaffe R, Kim C, Wilson P, Chien N, Glessner J, Talukdar A, Mazariegos G, Barmada MM, Frackleton E, Petro N, Eckert A, Hakonarson H, Ferrell R.: Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection. Gastroenterology 2008.

Sleiman PM, Annaiah K, Imielinski M, Bradfield JP, Kim CE, Frackelton EC, Glessner JT, Eckert AW, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson W, Garris M, Gunnlaugsson S, Chiavacci RM, Allen J, Spergel J, Grundmeier R, Grunstein MM, Magnusson M, Bisgaard H, Grant SF, Hakonarson H.: ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. J Allergy Clin Immunol 2008.

Sleiman PM, Annaiah K, Imielinski M, Bradfield JP, Kim CE, Frackelton EC, Glessner JT, Eckert AW, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson W, Garris M, Gunnlaugsson S, Chiavacci RM, Allen J, Spergel J, Grundmeier R, Grunstein MM, Magnusson M, Bisgaard H, Grant SF, Hakonarson H. : ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. doi: 10.1016/j.jaci.2008.06.041. Epub 2008 Aug 28. J Allergy Clin Immunol. 122(6): 1225-7, Dec 2008.

Wang K, Chen Z, Tadesse MG, Glessner J, Grant SF, Hakonarson H, Bucan M, Li M.: Modeling genetic inheritance of copy number variations. Nucleic Acids Res 2008.

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

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. doi: 10.1016/j.cgh.2007.04.024.Epub 2007 Jul 6. Clin Gastroenterol Hepatol. 5(8): 972-6, Aug 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. doi: 10.1136/gut.2007.122747. Gut. 56(8): 1171-3, Aug 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, 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 448: 591-4, Aug 2007.

Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M. : PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. doi: 10.1101/gr.6861907. Epub 2007 Oct 5. Genome Res. 17(11): 1665-74, Nov 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 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 2007.

Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M.: PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007.

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