☰

Hakon Hakonarson, M.D., PhD - Publications

Affiliations: 
Children’s Hospital of Philadelphia / University of Pennsylvania, Philadelphia, PA, United States 
Tree Info Similar researchers PubMed Report error

466 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Rajabli F, Benchek P, Tosto G, Kushch N, Sha J, Bazemore K, Zhu C, Lee WP, Haut J, Hamilton-Nelson KL, Wheeler NR, Zhao Y, Farrell JJ, Grunin MA, Leung YY, ... ... Hakonarson H, et al. Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies and nominates ancestry-specific loci , , and as novel risk loci for Alzheimer's disease: the Alzheimer's Disease Genetics Consortium. Medrxiv : the Preprint Server For Health Sciences. PMID 37461624 DOI: 10.1101/2023.07.06.23292311  0.302
2023 Singhal P, Veturi Y, Dudek SM, Lucas A, Frase A, van Steen K, Schrodi SJ, Fasel D, Weng C, Pendergrass R, Schaid DJ, Kullo IJ, Dikilitas O, Sleiman PMA, Hakonarson H, et al. Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets. American Journal of Human Genetics. 110: 575-591. PMID 37028392 DOI: 10.1016/j.ajhg.2023.03.007  0.314
2022 Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, ... ... Hakonarson H, et al. A saturated map of common genetic variants associated with human height. Nature. PMID 36224396 DOI: 10.1038/s41586-022-05275-y  0.302
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. Communications Biology. 4: 908. PMID 34302048 DOI: 10.1038/s42003-021-02368-8  0.304
2020 Namjou B, Stanaway IB, Lingren T, Mentch FD, Benoit B, Dikilitas O, Niu X, Shang N, Shoemaker AH, Carey DJ, Mirshahi T, Singh R, Nestor JG, Hakonarson H, Denny JC, et al. Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants. International Journal of Obesity (2005). PMID 32952152 DOI: 10.1038/S41366-020-00675-4  0.379
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. Scientific Reports. 10: 15252. PMID 32943653 DOI: 10.1038/S41598-020-71307-0  0.3
2020 Yaghootkar H, Zhang Y, Spracklen CN, Karaderi T, Huang LO, Bradfield J, Schurmann C, Fine RS, Preuss MH, Kutalik Z, Wittemans LB, Lu Y, Metz S, Willems SM, Li-Gao R, ... ... Hakonarson H, et al. Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity. Diabetes. PMID 32917775 DOI: 10.2337/Db20-0070  0.367
2020 Cánovas R, Cobb J, Brozynska M, Bowes J, Li YR, Smith SL, Hakonarson H, Thomson W, Ellis JA, Abraham G, Munro JE, Inouye M. Genomic risk scores for juvenile idiopathic arthritis and its subtypes. Annals of the Rheumatic Diseases. PMID 32887683 DOI: 10.1136/Annrheumdis-2020-217421  0.307
2020 Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, ... ... Hakonarson H, et al. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32814847 DOI: 10.1038/S41436-020-00944-7  0.303
2020 Thomas M, Sakoda LC, Hoffmeister M, Rosenthal EA, Lee JK, van Duijnhoven FJB, Platz EA, Wu AH, Dampier CH, de la Chapelle A, Wolk A, Joshi AD, Burnett-Hartman A, Gsur A, Lindblom A, ... ... Hakonarson H, et al. Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. American Journal of Human Genetics. PMID 32758450 DOI: 10.1016/J.Ajhg.2020.07.006  0.33
2020 Bis-Brewer DM, Gan-Or Z, Sleiman P, Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, et al. Assessing non-Mendelian inheritance in inherited axonopathies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32741968 DOI: 10.1038/S41436-020-0924-0  0.368
2020 Gabryszewski SJ, Chang X, Dudley JW, Mentch F, March M, Holmes JH, Moore J, Grundmeier RW, Hakonarson H, Hill DA. Unsupervised Modeling and Genome-Wide Association Identify Novel Features of Allergic March Trajectories. The Journal of Allergy and Clinical Immunology. PMID 32650023 DOI: 10.1016/J.Jaci.2020.06.026  0.337
2020 Ope O, Bhoj EJ, Nelson B, Li D, Hakonarson H, Sobering AK. A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly. American Journal of Medical Genetics. Part A. PMID 32618095 DOI: 10.1002/Ajmg.A.61744  0.366
2020 Zhang C, Ostrom QT, Hansen HM, Gonzalez-Maya J, Hu D, Ziv E, Morimoto L, de Smith AJ, Muskens IS, Kline CN, Vaksman Z, Hakonarson H, Diskin SJ, Kruchko C, Barnholtz-Sloan JS, et al. European genetic ancestry associated with risk of childhood ependymoma. Neuro-Oncology. PMID 32607579 DOI: 10.1093/Neuonc/Noaa130  0.329
2020 Sewda A, Agopian AJ, Goldmuntz E, Hakonarson H, Morrow BE, Musfee F, Taylor D, Mitchell LE. Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. Plos One. 15: e0234357. PMID 32516339 DOI: 10.1371/Journal.Pone.0234357  0.357
2020 Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, ... ... Hakonarson H, et al. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. American Journal of Medical Genetics. Part A. PMID 32500973 DOI: 10.1002/Ajmg.A.61615  0.336
2020 Dikilitas O, Schaid DJ, Kosel ML, Carroll RJ, Chute CG, Denny JA, Fedotov A, Feng Q, Hakonarson H, Jarvik GP, Lee MTM, Pacheco JA, Rowley R, Sleiman PM, Stein CM, et al. Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups. American Journal of Human Genetics. 106: 707-716. PMID 32386537 DOI: 10.1016/J.Ajhg.2020.04.002  0.356
2020 Mosley JD, Levinson RT, Farber-Eger E, Edwards TL, Hellwege JN, Hung AM, Giri A, Shuey MM, Shaffer CM, Shi M, Brittain EL, Chung WK, Kullo IJ, Arruda-Olson AM, Jarvik GP, ... ... Hakonarson H, et al. The polygenic architecture of left ventricular mass mirrors the clinical epidemiology. Scientific Reports. 10: 7561. PMID 32372017 DOI: 10.1038/S41598-020-64525-Z  0.339
2020 Trevisan CM, Naslavsky MS, Monfardini F, Wang J, Zatz M, Peluso C, Pellegrino R, Mafra F, Hakonarson H, Ferreira FM, Nakaya H, Christofolini DM, Montagna E, Crandall KA, Barbosa CP, et al. Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes. Dna and Cell Biology. PMID 32352843 DOI: 10.1089/Dna.2019.5165  0.315
2020 Mak ACY, Sajuthi S, Joo J, Xiao S, Sleiman PM, White MJ, Lee EY, Saef B, Hu D, Gui H, Keys KL, Lurmann F, Jain D, Abecasis G, Kang HM, ... ... Hakonarson H, et al. Novel Regulatory Variants Are Associated with Lung Function in African American Children with Asthma. Genetics. PMID 32327564 DOI: 10.1534/Genetics.120.303231  0.38
2020 Wu Y, Xia Y, Li P, Qu HQ, Liu Y, Yang Y, Lin J, Zheng M, Tian L, Wu Z, Huang S, Qin X, Zhou X, Chen S, Liu Y, ... ... Hakonarson H, et al. Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome. Orphanet Journal of Rare Diseases. 15: 101. PMID 32321550 DOI: 10.1186/S13023-020-01378-9  0.334
2020 Zhang Y, Ho K, Keaton JM, Hartzel DN, Day F, Justice AE, Josyula NS, Pendergrass SA, Actkins K, Davis LK, Velez Edwards DR, Holohan B, Ramirez A, Stanaway IB, Crosslin DR, ... ... Hakonarson H, et al. A genome-wide association study of polycystic ovary syndrome identified from electronic health records. American Journal of Obstetrics and Gynecology. PMID 32289280 DOI: 10.1016/J.Ajog.2020.04.004  0.328
2020 Cardinale CJ, March ME, Lin X, Liu Y, Spruce LA, Bradfield JP, Wei Z, Seeholzer SH, Grant SFA, Hakonarson H. Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide Polymorphism. Journal of Crohn's & Colitis. PMID 32271392 DOI: 10.1093/Ecco-Jcc/Jjz213  0.344
2020 Munn-Chernoff MA, Johnson EC, Chou YL, Coleman JRI, Thornton LM, Walters RK, Yilmaz Z, Baker JH, Hübel C, Gordon S, Medland SE, Watson HJ, Gaspar HA, Bryois J, Hinney A, ... ... Hakonarson H, et al. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies. Addiction Biology. e12880. PMID 32064741 DOI: 10.1111/Adb.12880  0.33
2020 Esslinger U, Garnier S, Korniat A, Proust C, Kararigas G, Müller-Nurasyid M, Empana JP, Morley MP, Perret C, Stark K, Bick AG, Prasad SK, Kriebel J, Li J, Tiret L, ... ... Hakonarson H, et al. Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. Plos One. 15: e0229472. PMID 32059048 DOI: 10.1371/Journal.Pone.0229472  0.316
2020 Forgetta V, Manousaki D, Istomine R, Ross S, Tessier MC, Marchand L, Li M, Qu HQ, Bradfield JP, Grant SFA, Hakonarson H, Paterson AD, Piccirillo C, Polychronakos C, et al. Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes. Diabetes. PMID 32005708 DOI: 10.2337/Db19-0831  0.398
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, ... ... Hakonarson H, et al. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nature Communications. 11: 255. PMID 31937769 DOI: 10.1038/S41467-019-13624-1  0.419
2020 Khan A, Hayes M, Connolly J, Mentch F, Sleiman P, Hakonarson H, Wang C, Hripcsak G, Kiryluk K, Petukhova L. 265 Genome-wide association study of hidradenitis suppurativa in a multi-ethnic cohort Journal of Investigative Dermatology. 140. DOI: 10.1016/J.Jid.2020.03.271  0.348
2019 Couto Alves A, De Silva NMG, Karhunen V, Sovio U, Das S, Taal HR, Warrington NM, Lewin AM, Kaakinen M, Cousminer DL, Thiering E, Timpson NJ, Bond TA, Lowry E, Brown CD, ... ... Hakonarson H, et al. GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI. Science Advances. 5: eaaw3095. PMID 31840077 DOI: 10.1126/Sciadv.Aaw3095  0.335
2019 Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, ... ... Hakonarson H, et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain : a Journal of Neurology. PMID 31794024 DOI: 10.1093/Brain/Awz374  0.36
2019 Fuster-García C, García-García G, Jaijo T, Blanco-Kelly F, Tian L, Hakonarson H, Ayuso C, Aller E, Millán JM. Expanding the Genetic Landscape of Usher-Like Phenotypes. Investigative Ophthalmology & Visual Science. 60: 4701-4710. PMID 31725169 DOI: 10.1167/Iovs.19-27470  0.352
2019 Bakay M, Pandey R, Grant SFA, Hakonarson H. The Genetic Contribution to Type 1 Diabetes. Current Diabetes Reports. 19: 116. PMID 31686270 DOI: 10.1007/S11892-019-1235-1  0.332
2019 Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, Deelen P, Rohde R, Schurmann C, Guo X, Giulianini F, ... ... Hakonarson H, et al. Associations of autozygosity with a broad range of human phenotypes. Nature Communications. 10: 4957. PMID 31673082 DOI: 10.1038/S41467-019-12283-6  0.319
2019 Schmidt AF, Holmes MV, Preiss D, Swerdlow DI, Denaxas S, Fatemifar G, Faraway R, Finan C, Valentine D, Fairhurst-Hunter Z, Hartwig FP, Horta BL, Hypponen E, Power C, Moldovan M, ... ... Hakonarson H, et al. Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9. Bmc Cardiovascular Disorders. 19: 240. PMID 31664920 DOI: 10.1186/S12872-019-1187-Z  0.348
2019 Avitabile M, Succoio M, Testori A, Cardinale A, Vaksman Z, Lasorsa VA, Cantalupo S, Esposito M, Cimmino F, Montella A, Formicola D, Koster J, Andreotti V, Ghiorzo P, Romano MF, ... ... Hakonarson H, et al. Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene. Carcinogenesis. PMID 31605138 DOI: 10.1093/Carcin/Bgz153  0.385
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. Frontiers in Genetics. 10: 819. PMID 31552105 DOI: 10.3389/Fgene.2019.00819  0.404
2019 Bradfield JP, Vogelezang S, Felix JF, Chesi A, Helgeland Ø, Horikoshi M, Karhunen V, Lowry E, Cousminer DL, Ahluwalia TS, Thiering E, Boh ET, Zafarmand MH, Vilor-Tejedor N, Wang CA, ... ... Hakonarson H, et al. A Trans-ancestral Meta-Analysis of Genome-Wide Association Studies Reveals Loci Associated with Childhood Obesity. Human Molecular Genetics. PMID 31504550 DOI: 10.1093/Hmg/Ddz161  0.375
2019 Liu X, Helenius D, Skotte L, Beaumont RN, Wielscher M, Geller F, Juodakis J, Mahajan A, Bradfield JP, Lin FTJ, Vogelezang S, Bustamante M, Ahluwalia TS, Pitkänen N, Wang CA, ... ... Hakonarson H, et al. Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. Nature Communications. 10: 3927. PMID 31477735 DOI: 10.1038/S41467-019-11881-8  0.365
2019 Egolf LE, Vaksman Z, Lopez G, Rokita JL, Modi A, Basta PV, Hakonarson H, Olshan AF, Diskin SJ. Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. American Journal of Human Genetics. PMID 31474320 DOI: 10.1016/J.Ajhg.2019.07.020  0.393
2019 Qu HQ, Wang X, Tian L, Hakonarson H. Application of ACMG criteria to classify variants in the human gene mutation database. Journal of Human Genetics. PMID 31451714 DOI: 10.1038/S10038-019-0663-8  0.374
2019 Sun Y, Yao X, March ME, Meng X, Li J, Wei Z, Sleiman PMA, Hakonarson H, Xia Q, Li J. Target Genes of Autism Risk Loci in Brain Frontal Cortex. Frontiers in Genetics. 10: 707. PMID 31447881 DOI: 10.3389/Fgene.2019.00707  0.357
2019 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, et al. CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. International Journal of Cardiology. PMID 31447229 DOI: 10.1016/J.Ijcard.2019.07.058  0.331
2019 Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, et al. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. American Journal of Human Genetics. PMID 31353023 DOI: 10.1016/J.Ajhg.2019.06.016  0.355
2019 Cruz PRS, Ananina G, Gil-da-Silva-Lopes VL, Simioni M, Menaa F, Bezerra MAC, Domingos IF, Araújo AS, Pellegrino R, Hakonarson H, Costa FF, de Melo MB. Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence. Scientific Reports. 9: 10896. PMID 31350437 DOI: 10.1038/S41598-019-47313-2  0.363
2019 Sewda A, Agopian AJ, Goldmuntz E, Hakonarson H, Morrow BE, Taylor D, Mitchell LE. Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects. Plos One. 14: e0219926. PMID 31314787 DOI: 10.1371/Journal.Pone.0219926  0.399
2019 Namjou B, Lingren T, Huang Y, Parameswaran S, Cobb BL, Stanaway IB, Connolly JJ, Mentch FD, Benoit B, Niu X, Wei WQ, Carroll RJ, Pacheco JA, Harley ITW, Divanovic S, ... ... Hakonarson H, et al. GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. Bmc Medicine. 17: 135. PMID 31311600 DOI: 10.1186/S12916-019-1364-Z  0.326
2019 Li D, March ME, Gutierrez-Uzquiza A, Kao C, Seiler C, Pinto E, Matsuoka LS, Battig MR, Bhoj EJ, Wenger TL, Tian L, Robinson N, Wang T, Liu Y, Weinstein BM, ... ... Hakonarson H, et al. ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor. Nature Medicine. PMID 31263281 DOI: 10.1038/S41591-019-0479-2  0.309
2019 Xie HM, Taylor DM, Zhang Z, McDonald-McGinn DM, Zackai EH, Stambolian D, Hakonarson H, Morrow BE, Emanuel BS, Goldmuntz E. Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status. Birth Defects Research. PMID 31222980 DOI: 10.1002/Bdr2.1534  0.349
2019 Pouget JG, Han B, Wu Y, Mignot E, Ollila HM, Barker J, Spain S, Dand N, Trembath R, Martin J, Mayes MD, Bossini-Castillo L, López-Isac E, Jin Y, ... ... Hakonarson H, et al. Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk. Human Molecular Genetics. PMID 31211845 DOI: 10.1093/Hmg/Ddz145  0.36
2019 Zhang J, Wei Z, Cardinale CJ, Gusareva ES, Van Steen K, Sleiman P, Hakonarson H. Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis. Frontiers in Genetics. 10: 257. PMID 31001315 DOI: 10.3389/Fgene.2019.00257  0.328
2019 Hellwege JN, Stallings S, Torstenson ES, Carroll R, Borthwick KM, Brilliant MH, Crosslin D, Gordon A, Hripcsak G, Jarvik GP, Linneman JG, Devi P, Peissig PL, Sleiman PAM, Hakonarson H, et al. Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network. Scientific Reports. 9: 6077. PMID 30988330 DOI: 10.1038/S41598-019-42427-Z  0.393
2019 Li J, Yuan X, March ME, Yao X, Sun Y, Chang X, Hakonarson H, Xia Q, Meng X, Li J. Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils. Frontiers in Genetics. 10: 181. PMID 30972099 DOI: 10.3389/Fgene.2019.00181  0.381
2019 Belangero SI, Ota VK, Gadelha A, Berberian AA, Assunção-Leme IB, Noto C, Christofolini DM, Bellucco FT, Santoro ML, Mazzotti DR, Zugman A, Melaragno MI, Smith MAC, Pellegrino R, Hakonarson H, et al. DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis. Psychiatry Research. 274: 391-394. PMID 30901624 DOI: 10.1016/J.Psychres.2019.02.068  0.327
2019 Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, et al. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30890783 DOI: 10.1038/S41436-019-0475-4  0.341
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. Journal of Psychiatric Research. 113: 34-38. PMID 30878790 DOI: 10.1016/J.Jpsychires.2019.01.021  0.374
2019 Li J, Wei Z, Zhang J, Hakonarson H, Cook-Sather SD. Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits. The Pharmacogenomics Journal. PMID 30760877 DOI: 10.1038/S41397-019-0074-4  0.307
2019 Murali C, Li D, Grand K, Hakonarson H, Bhoj E. Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. American Journal of Medical Genetics. Part A. PMID 30719842 DOI: 10.1002/Ajmg.A.61060  0.304
2019 Carvalho CM, Pan PM, Ota VK, Spindola LM, Xavier G, Santoro ML, Mazzotti DR, Pellegrino R, Hakonarson H, Rohde LA, Miguel EC, Gadelha A, Bressan RA, Belangero SI. Effects of the interaction between genetic factors and maltreatment on child and adolescent psychiatric disorders. Psychiatry Research. 273: 575-577. PMID 30716596 DOI: 10.1016/J.Psychres.2019.01.078  0.328
2019 Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, ... ... Hakonarson H, et al. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature Genetics. 51: 117-127. PMID 30578417 DOI: 10.1038/S41588-018-0281-Y  0.339
2019 Langan R, Japp A, Gonzalez M, Rasheed R, Pierson SK, Kao C, Hakonarson H, van Rhee F, Betts M, Kambayashi T, Fajgenbaum DC. Type I Interferon Response Identified through Phenotypic and Transcriptional Profiling of Circulating Immune Cells during Idiopathic Multicentric Castleman Disease Flare Blood. 134: 1046-1046. DOI: 10.1182/Blood-2019-128994  0.309
2019 Russell MW, Moldenhauer JS, Rychik J, Burnham N, Parry SI, Simmons R, Elovitz M, Nicolson S, Linn R, Johnson MP, Yu S, Sampson M, Hakonarson H, Gaynor JW. DAMAGING GENETIC VARIANTS IN PRO-ANGIOGENIC GENES IMPAIR GROWTH IN FETUSES WITH CRITICAL CONGENITAL CARDIAC DEFECTS Journal of the American College of Cardiology. 73: 585. DOI: 10.1016/S0735-1097(19)31193-3  0.315
2019 Khan A, Hayes M, Connolly J, Mentch F, Sleiman P, Hakonarson H, Denny J, Hripcsak G, Weng C, Kiryluk K, Petukhova L. 001 Genome-wide association study of acne inversa in a multi-ethnic cohort Journal of Investigative Dermatology. 139: S215. DOI: 10.1016/J.Jid.2019.07.004  0.349
2019 Glessner J, Li J, Khan M, Chang X, Liu Y, Sleiman P, Hakonarson H. Genetic Sharing Of Copy Number Variations Across Psychiatric Diseases European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.07.066  0.334
2019 Ahn K, Mentch F, An S, Kao C, Hakonarson H, Rapoport J. Neurodevelopmental Copy Number Variants And Clinical Risk: A Pediatric Record Population Study European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.352  0.352
2019 Smajlagic D, Connolly S, Hakonarson H, Waldman I, Elia J, Heron E, Haavik J, Johansson S, Zayats T. GENOME-WIDE EXAMINATION OF PARENT-OF-ORIGIN EFFECTS IN CHILDREN WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER European Neuropsychopharmacology. 29: S888-S889. DOI: 10.1016/J.Euroneuro.2017.08.193  0.371
2018 Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, ... ... Hakonarson H, et al. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain : a Journal of Neurology. PMID 30576410 DOI: 10.1093/Brain/Awy310  0.311
2018 Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, Baldursson G, Belliveau R, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Churchhouse C, Dumont A, Eriksson N, ... ... Hakonarson H, et al. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nature Genetics. PMID 30478444 DOI: 10.1038/S41588-018-0269-7  0.336
2018 Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, ... ... Hakonarson H, et al. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. European Journal of Medical Genetics. PMID 30472488 DOI: 10.1016/J.Ejmg.2018.11.022  0.334
2018 Hall TO, Stanaway IB, Carrell DS, Carroll RJ, Denny JC, Hakonarson H, Larson EB, Mentch FD, Peissig PL, Pendergrass SA, Rosenthal EA, Jarvik GP, Crosslin DR. Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling. Genes and Immunity. PMID 30459343 DOI: 10.1038/S41435-018-0051-Y  0.348
2018 Sood N, Connolly JJ, Mentch FD, Vazquez L, Sleiman PMA, Hysinger EB, Hakonarson H. Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients. Pharmacogenetics and Genomics. 28: 256-259. PMID 30334910 DOI: 10.1097/Fpc.0000000000000355  0.349
2018 Diogo D, Tian C, Franklin CS, Alanne-Kinnunen M, March M, Spencer CCA, Vangjeli C, Weale ME, Mattsson H, Kilpeläinen E, Sleiman PMA, Reilly DF, McElwee J, Maranville JC, Chatterjee AK, ... ... Hakonarson H, et al. Phenome-wide association studies across large population cohorts support drug target validation. Nature Communications. 9: 4285. PMID 30327483 DOI: 10.1038/S41467-018-06540-3  0.372
2018 Tylee DS, Sun J, Hess JL, Tahir MA, Sharma E, Malik R, Worrall BB, Levine AJ, Martinson JJ, Nejentsev S, Speed D, Fischer A, Mick E, Walker BR, Crawford A, ... ... Hakonarson H, et al. Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 30325587 DOI: 10.1002/Ajmg.B.32652  0.373
2018 Chang X, Lima LA, Liu Y, Li J, Li Q, Sleiman PMA, Hakonarson H. Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia. Frontiers in Genetics. 9: 434. PMID 30323833 DOI: 10.3389/Fgene.2018.00434  0.346
2018 Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, ... ... Hakonarson H, et al. The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype. Genetic Epidemiology. PMID 30298529 DOI: 10.1002/Gepi.22167  0.375
2018 Chang X, Pellegrino R, Garifallou J, March M, Snyder J, Mentch F, Li J, Hou C, Liu Y, Sleiman PMA, Hakonarson H. Common variants at 5q33.1 predispose to migraine in African-American children. Journal of Medical Genetics. PMID 30266756 DOI: 10.1136/Jmedgenet-2018-105359  0.353
2018 Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, ... ... Hakonarson H, et al. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30245513 DOI: 10.1038/S41436-018-0259-2  0.338
2018 Chen Y, Gilbert MA, Grochowski CM, McEldrew D, Llewellyn J, Waisbourd-Zinman O, Hakonarson H, Bailey-Wilson JE, Russo P, Wells RG, Loomes KM, Spinner NB, Devoto M. A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. Plos Genetics. 14: e1007532. PMID 30102696 DOI: 10.1371/Journal.Pgen.1007532  0.408
2018 Gray KJ, Kovacheva VP, Mirzakhani H, Bjonnes AC, Almoguera B, DeWan AT, Triche EW, Saftlas AF, Hoh J, Bodian DL, Klein E, Huddleston KC, Ingles SA, Lockwood CJ, Hakonarson H, et al. Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at . Hypertension (Dallas, Tex. : 1979). PMID 29967039 DOI: 10.1161/Hypertensionaha.117.10688  0.385
2018 Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... Hakonarson H, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/Science.Aap8757  0.328
2018 Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, ... ... Hakonarson H, et al. Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. Human Molecular Genetics. PMID 29905864 DOI: 10.1093/Hmg/Ddy218  0.302
2018 Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, ... ... Hakonarson H, et al. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. Scientific Reports. 8: 5285. PMID 29588463 DOI: 10.1038/S41598-018-23520-1  0.348
2018 Fahey LM, Chandramouleeswaran PM, Guan S, Benitez AJ, Furuta GT, Aceves SS, Wang ML, Liacouras CA, Muir AB, Sleiman PM, Hakonarson H, Spergel JM, Cianferoni A. Food allergen triggers are increased in children with the TSLP risk allele and eosinophilic esophagitis. Clinical and Translational Gastroenterology. 9: 139. PMID 29511165 DOI: 10.1038/S41424-018-0003-X  0.319
2018 Mak AC, White MJ, Eckalbar WL, Szpiech ZA, Oh SS, Pino-Yanes M, Hu D, Goddard P, Huntsman S, Galanter J, Wu AC, Himes BE, Germer S, Vogel JM, Bunting KL, ... ... Hakonarson H, et al. Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. American Journal of Respiratory and Critical Care Medicine. PMID 29509491 DOI: 10.1164/Rccm.201712-2529Oc  0.402
2018 Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Touati A, Abiri M, Sotoudeh S, Norouz-Zadeh S, Amirinezhad N, Mozafari N, Daneshpazhooh M, Mahmoudi HR, Hamid M, Bradfield JP, Kim CE, ... Hakonarson H, et al. Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Experimental Dermatology. PMID 29364557 DOI: 10.1111/Exd.13501  0.376
2018 Koberstein JN, Poplawski SG, Wimmer ME, Porcari G, Kao C, Gomes B, Risso D, Hakonarson H, Zhang NR, Schultz RT, Abel T, Peixoto L. Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism. Science Signaling. 11. PMID 29339533 DOI: 10.1126/Scisignal.Aan6500  0.354
2018 Beaumont RN, Warrington NM, Cavadino A, Tyrrell J, Nodzenski M, Horikoshi M, Geller F, Myhre R, Richmond RC, Paternoster L, Bradfield JP, Kreiner-Møller E, Huikari V, Metrustry S, Lunetta KL, ... ... Hakonarson H, et al. Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. Human Molecular Genetics. PMID 29309628 DOI: 10.1093/Hmg/Ddx429  0.354
2018 Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, Guo X, Hendricks AE, Karaderi T, Lempradl A, Locke AE, ... ... Hakonarson H, et al. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 50: 26-41. PMID 29273807 DOI: 10.1038/S41588-017-0011-X  0.382
2018 Langan R, Shilling D, Gonzalez M, Kao C, Hakonarson H, Kambayashi T, Fajgenbaum DC. Single-Cell RNA-Sequencing of Peripheral Blood Mononuclear Cells Reveals Changes in Immune Cell Composition and Distinct Inflammatory Gene Expression Profiles during Idiopathic Multicentric Castleman Disease Flare Blood. 132: 2406-2406. DOI: 10.1182/Blood-2018-99-110461  0.305
2018 Cardinale CJ, Hakonarson H. P027 DIFFERENTIAL BINDING OF RBPJ AND CUX1 TO IBD CAUSAL SNP RS1887428 MODIFIES EXPRESSION OF JAK2 Gastroenterology. 154: S14-S15. DOI: 10.1053/J.Gastro.2017.11.062  0.302
2018 Dajani R, Shbailat S, Arafat A, Sober S, Albitar H, Tayyem R, Wei Z, Hakonarson H. Association of genetic variants with macronutrient intake in Circassian and Chechan populations in relation to diabetes Meta Gene. 16: 199-207. DOI: 10.1016/J.Mgene.2018.03.003  0.353
2017 Zhang Y, Tian L, Sleiman P, Ghosh S, Hakonarson H. Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci. European Journal of Human Genetics : Ejhg. PMID 29203833 DOI: 10.1038/S41431-017-0041-Y  0.418
2017 Wenger T, Li D, Harr MH, Tan WH, Pellegrino R, Stark Z, Hakonarson H, Bhoj EJ. Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins. American Journal of Medical Genetics. Part A. PMID 29130604 DOI: 10.1002/Ajmg.A.38516  0.328
2017 Mavroudis CD, Seung Kim D, Burnham N, Morss AH, Kim JH, Burt AA, Crosslin DR, McDonald-McGinn DM, Zackai EH, Cohen MS, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, ... Hakonarson H, et al. A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD. Cardiology in the Young. 1-7. PMID 28927471 DOI: 10.1017/S1047951117001391  0.315
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, ... ... Hakonarson H, et al. Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. Nature Communications. 8: 569. PMID 28924153 DOI: 10.1038/S41467-017-00408-8  0.346
2017 Dajani R, Li J, Wei Z, March ME, Xia Q, Khader Y, Hakooz N, Fatahallah R, El-Khateeb M, Arafat A, Saleh T, Dajani AR, Al-Abbadi Z, Abdul Qader M, Shiyab AH, ... ... Hakonarson H, et al. Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations. Peerj. 5: e3618. PMID 28828242 DOI: 10.7717/Peerj.3618  0.4
2017 Cook-Sather SD, Li J, Hakonarson H. Pain versus analgesia: TAOK3 as a pharmacogene. Pain. 158: 1622-1623. PMID 28715357 DOI: 10.1097/J.Pain.0000000000000946  0.311
2017 Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, ... ... Hakonarson H, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics. PMID 28714976 DOI: 10.1038/Ng.3916  0.393
2017 Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, ... ... Hakonarson H, et al. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Scientific Reports. 7: 3847. PMID 28630421 DOI: 10.1038/S41598-017-01674-8  0.424
2017 Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, ... ... Hakonarson H, et al. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature Neuroscience. PMID 28628100 DOI: 10.1038/Nn.4589  0.3
2017 McDaniel LD, Conkrite KL, Chang X, Capasso M, Vaksman Z, Oldridge DA, Zachariou A, Horn M, Diamond M, Huo C, Iolascon A, Hakonarson H, Rahman N, Devoto M, Diskin SJ. Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. Plos Genetics. 13: e1006787. PMID 28545128 DOI: 10.1371/Journal.Pgen.1006787  0.368
2017 Agopian AJ, Goldmuntz E, Hakonarson H, Sewda A, Taylor D, Mitchell LE. Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circulation. Cardiovascular Genetics. 10: e001449. PMID 28468790 DOI: 10.1161/Circgenetics.116.001449  0.366
2017 Ng MCY, Graff M, Lu Y, Justice AE, Mudgal P, Liu CT, Young K, Yanek LR, Feitosa MF, Wojczynski MK, Rand K, Brody JA, Cade BE, Dimitrov L, Duan Q, ... ... Hakonarson H, et al. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African ancestry anthropometry genetics consortium. Plos Genetics. 13: e1006719. PMID 28430825 DOI: 10.1371/Journal.Pgen.1006719  0.4
2017 Xie HM, Werner P, Stambolian D, Bailey-Wilson JE, Hakonarson H, White PS, Taylor DM, Goldmuntz E. Rare copy number variants in patients with congenital conotruncal heart defects. Birth Defects Research. 109: 271-295. PMID 28398664 DOI: 10.1002/Bdra.23609  0.347
2017 Esslinger U, Garnier S, Korniat A, Proust C, Kararigas G, Müller-Nurasyid M, Empana JP, Morley MP, Perret C, Stark K, Bick AG, Prasad SK, Kriebel J, Li J, Tiret L, ... ... Hakonarson H, et al. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. Plos One. 12: e0172995. PMID 28296976 DOI: 10.1371/Journal.Pone.0172995  0.361
2017 Guo Y, Hwang LD, Li J, Eades J, Yu CW, Mansfield C, Burdick-Will A, Chang X, Chen Y, Duke FF, Zhang J, Fakharzadeh S, Fennessey P, Keating BJ, Jiang H, ... Hakonarson H, et al. Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing. Bmc Medical Genetics. 18: 11. PMID 28196478 DOI: 10.1186/S12881-017-0369-8  0.307
2017 Sleiman PM, March M, Nguyen K, Tian L, Pellegrino R, Hou C, Dridi W, Sager M, Housawi YH, Hakonarson H. Loss of Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy. Human Mutation. PMID 28150392 DOI: 10.1002/Humu.23188  0.302
2017 Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, ... ... Hakonarson H, et al. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. The New England Journal of Medicine. PMID 28121514 DOI: 10.1056/Nejmoa1609009  0.326
2017 Smith AH, Jensen KP, Li J, Nunez Y, Farrer LA, Hakonarson H, Cook-Sather SD, Kranzler HR, Gelernter J. Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1. Molecular Psychiatry. PMID 28115739 DOI: 10.1038/Mp.2016.257  0.321
2017 Cardinale C, Hakonarson H. P-309 IBD Causal Variant rs1887428 in the Promoter of JAK2 Demonstrates Differential Allelic Expression Inflammatory Bowel Diseases. 23. DOI: 10.1097/01.Mib.0000512850.99334.4A  0.354
2016 Cardinale CJ, Li D, Tian L, Connolly JJ, March ME, Hou C, Wang F, Snyder J, Kim CE, Chiavacci RM, Sleiman PM, Burnham JM, Hakonarson H. Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study. Bmc Musculoskeletal Disorders. 17: 462. PMID 27829420 DOI: 10.1186/S12891-016-1320-4  0.346
2016 Mafra F, Mazzotti D, Pellegrino R, Bianco B, Barbosa CP, Hakonarson H, Christofolini D. Copy number variation analysis reveals additional variants contributing to endometriosis development. Journal of Assisted Reproduction and Genetics. PMID 27817035 DOI: 10.1007/S10815-016-0822-1  0.393
2016 Wang Y, Li J, Kolon TF, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Stabley D, Kim CE, Sol-Church K, ... Hakonarson H, et al. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. Bmc Urology. 16: 62. PMID 27769252 DOI: 10.1186/S12894-016-0180-4  0.395
2016 Germine L, Robinson EB, Smoller JW, Calkins ME, Moore TM, Hakonarson H, Daly MJ, Lee PH, Holmes AJ, Buckner RL, Gur RC, Gur RE. Association between polygenic risk for schizophrenia, neurocognition and social cognition across development. Translational Psychiatry. 6: e924. PMID 27754483 DOI: 10.1038/Tp.2016.147  0.309
2016 Brant SR, Okou DT, Simpson CL, Cutler DJ, Haritunians T, Bradfield JP, Chopra P, Prince J, Begum F, Kumar A, Huang C, Venkateswaran S, Datta LW, Wei Z, Thomas K, ... ... Hakonarson H, et al. Genome-wide Association Study Identifies African-Specific Susceptibility Loci in African Americans with Inflammatory Bowel Disease. Gastroenterology. PMID 27693347 DOI: 10.1053/J.Gastro.2016.09.032  0.336
2016 Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, Feenstra B, van Zuydam NR, Gaulton KJ, Grarup N, Bradfield JP, Strachan DP, Li-Gao R, Ahluwalia TS, Kreiner E, ... ... Hakonarson H, et al. Genome-wide associations for birth weight and correlations with adult disease. Nature. PMID 27680694 DOI: 10.1038/Nature19806  0.413
2016 van Ingen G, Li J, Goedegebure A, Pandey R, Li YR, March ME, Jaddoe VW, Bakay M, Mentch FD, Thomas K, Wei Z, Chang X, Hain HS, Uitterlinden AG, Moll HA, ... ... Hakonarson H, et al. Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene. Nature Communications. 7: 12792. PMID 27677580 DOI: 10.1038/Ncomms12792  0.423
2016 Bustamante M, Standl M, Bassat Q, Vilor-Tejedor N, Medina-Gomez C, Bonilla C, Ahluwalia TS, Bacelis J, Bradfield JP, Tiesler CM, Rivadeneira F, Ring S, Vissing NH, Fink NR, Jugessur A, ... ... Hakonarson H, et al. A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways. Human Molecular Genetics. PMID 27559109 DOI: 10.1093/Hmg/Ddw264  0.415
2016 Li D, Achkar JP, Haritunians T, Jacobs JP, Hui KY, D'Amato M, Brand S, Radford-Smith G, Halfvarson J, Niess JH, Kugathasan S, Büning C, Schumm LP, Klei L, Ananthakrishnan A, ... ... Hakonarson H, et al. A pleiotropic missense variant in SLC39A8 is associated with Crohn's disease and human gut microbiome composition. Gastroenterology. PMID 27492617 DOI: 10.1053/J.Gastro.2016.06.051  0.38
2016 Santoro ML, Moretti PN, Pellegrino R, Gadelha A, Abílio VC, Hayashi MA, Belangero SI, Hakonarson H. A current snapshot of common genomic variants contribution in psychiatric disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 27486013 DOI: 10.1002/Ajmg.B.32475  0.353
2016 Li J, Wei Z, Li YR, Maggadottir SM, Chang X, Desai A, Hakonarson H. Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches. Biochimica Et Biophysica Acta. PMID 27316315 DOI: 10.1016/J.Bbagen.2016.06.014  0.313
2016 Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. American Journal of Medical Genetics. Part A. PMID 27264197 DOI: 10.1002/Ajmg.A.37722  0.326
2016 Hain HS, Hakonarson H. The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes. Neuron. 90: 905-6. PMID 27253441 DOI: 10.1016/J.Neuron.2016.05.027  0.314
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, ... ... Hakonarson H, et al. Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Scientific Reports. 6: 25861. PMID 27216920 DOI: 10.1038/Srep25861  0.309
2016 Hinney A, Kesselmeier M, Jall S, Volckmar AL, Föcker M, Antel J, Heid IM, Winkler TW, Grant SF, Guo Y, Bergen AW, ... ... Hakonarson H, et al. Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. Molecular Psychiatry. PMID 27184124 DOI: 10.1038/Mp.2016.71  0.373
2016 Li J, Wei Z, Chang X, Cardinale CJ, Kim CE, Baldassano RN, Hakonarson H. Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease. Inflammatory Bowel Diseases. PMID 27104816 DOI: 10.1097/Mib.0000000000000785  0.359
2016 Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, ... ... Hakonarson H, et al. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature Biotechnology. PMID 27065010 DOI: 10.1038/Nbt.3514  0.394
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, et al. Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. The Journal of Allergy and Clinical Immunology. PMID 27016798 DOI: 10.1016/J.Jaci.2016.01.018  0.38
2016 Cofer ZC, Cui S, EauClaire SF, Kim C, Tobias JW, Hakonarson H, Loomes KM, Matthews RP. Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia. Plos One. 11: e0151521. PMID 27010479 DOI: 10.1371/Journal.Pone.0151521  0.326
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, ... ... Hakonarson H, et al. Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility. Bmc Medical Genetics. 17: 24. PMID 27005825 DOI: 10.1186/S12881-016-0285-3  0.374
2016 de Araújo Lima L, 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, ... ... Hakonarson H, et al. An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Scientific Reports. 6: 22851. PMID 26947246 DOI: 10.1038/Srep22851  0.376
2016 Desai A, Connolly JJ, March M, Hou C, Chiavacci R, Kim C, Lyon G, Hadley D, Hakonarson H. Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. Bmc Musculoskeletal Disorders. 17: 80. PMID 26879370 DOI: 10.1186/S12891-016-0936-8  0.302
2016 Bush WS, Crosslin DR, Obeng AO, Wallace J, Almoguera B, Basford MA, Bielinski SJ, Carrell DS, Connolly JJ, Crawford D, Doheny KF, Gallego CJ, Gordon AS, Keating B, Kirby J, ... ... Hakonarson H, et al. Genetic Variation among 82 Pharmacogenes: the PGRN-Seq data from the eMERGE Network. Clinical Pharmacology and Therapeutics. PMID 26857349 DOI: 10.1002/Cpt.350  0.359
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. Schizophrenia Research. PMID 26851141 DOI: 10.1016/J.Schres.2016.01.043  0.358
2016 Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Prato AP, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, ... ... Hakonarson H, et al. Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. European Journal of Human Genetics : Ejhg. PMID 26813947 DOI: 10.1038/Ejhg.2015.275  0.364
2016 Li J, Wei Z, Hakonarson H. Application of computational methods in genetic study of inflammatory bowel disease. World Journal of Gastroenterology. 22: 949-60. PMID 26811639 DOI: 10.3748/Wjg.V22.I3.949  0.389
2016 Guo Y, Wei Z, Keating BJ, Hakonarson H. Machine learning derived risk prediction of anorexia nervosa. Bmc Medical Genomics. 9: 4. PMID 26792494 DOI: 10.1186/S12920-016-0165-X  0.337
2016 Wenger TL, Kao C, McDonald-McGinn DM, Zackai EH, Bailey A, Schultz RT, Morrow BE, Emanuel BS, Hakonarson H. The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. Scientific Reports. 6: 19372. PMID 26781481 DOI: 10.1038/Srep19372  0.323
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. Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing. 21: 357-68. PMID 26776200  0.307
2016 Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, ... ... Hakonarson H, et al. Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. Jama. 315: 47-57. PMID 26746457 DOI: 10.1001/Jama.2015.17701  0.347
2016 Vahidnezhad H, Youssefian L, Zeinali S, Sotoude S, Barzegar M, Mozafari N, Saeidian A, Hakonarson H, Uitto J. 385 Whole genome homozygosity mapping to identify candidate genes in epidermolysis bullosa in consanguineous families Journal of Investigative Dermatology. 136: S68. DOI: 10.1016/J.Jid.2016.02.418  0.307
2015 Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, Kim CE, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Heagerty PJ, Hakonarson H, Gaynor JW, et al. Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. The Journal of Thoracic and Cardiovascular Surgery. PMID 26704054 DOI: 10.1016/J.Jtcvs.2015.09.136  0.305
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. Scientific Reports. 5: 18792. PMID 26685716 DOI: 10.1038/Srep18792  0.381
2015 Ningappa M, Ashokkumar C, Higgs BW, Sun Q, Jaffe R, Mazariegos G, Li D, Weeks DE, Subramaniam S, Ferrell R, Hakonarson H, Sindhi R. Enhanced B Cell Alloantigen Presentation and Its Epigenetic Dysregulation in Liver Transplant Rejection. American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons. PMID 26663361 DOI: 10.1111/Ajt.13509  0.326
2015 Felix JF, Bradfield JP, Monnereau C, van der Valk RJ, Stergiakouli E, Chesi A, Gaillard R, Feenstra B, Thiering E, Kreiner-Møller E, Mahajan A, Pitkänen N, Joro R, Cavadino A, Huikari V, ... ... Hakonarson H, et al. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Human Molecular Genetics. PMID 26604143 DOI: 10.1093/Hmg/Ddv472  0.36
2015 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, et al. Psychiatric gene discoveries shape evidence on ADHD's biology. Molecular Psychiatry. PMID 26573769 DOI: 10.1038/Mp.2015.163  0.352
2015 Oldridge DA, Wood AC, Weichert-Leahey N, Crimmins I, Sussman R, Winter C, McDaniel LD, Diamond M, Hart LS, Zhu S, Durbin AD, Abraham BJ, Anders L, Tian L, Zhang S, ... ... Hakonarson H, et al. Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism. Nature. PMID 26560027 DOI: 10.1038/Nature15540  0.388
2015 Sleiman PM, March M, Hakonarson H. The genetic basis of eosinophilic esophagitis. Best Practice & Research. Clinical Gastroenterology. 29: 701-7. PMID 26552769 DOI: 10.1016/J.Bpg.2015.09.003  0.405
2015 Marenholz I, Esparza-Gordillo J, Rüschendorf F, Bauerfeind A, Strachan DP, Spycher BD, Baurecht H, Margaritte-Jeannin P, Sääf A, Kerkhof M, Ege M, Baltic S, Matheson MC, Li J, Michel S, ... ... Hakonarson H, et al. Meta-analysis identifies seven susceptibility loci involved in the atopic march. Nature Communications. 6: 8804. PMID 26542096 DOI: 10.1038/Ncomms9804  0.369
2015 Cleynen I, Boucher G, Jostins L, Schumm LP, Zeissig S, Ahmad T, Andersen V, Andrews JM, Annese V, Brand S, Brant SR, Cho JH, Daly MJ, Dubinsky M, Duerr RH, ... ... Hakonarson H, et al. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study. Lancet (London, England). PMID 26490195 DOI: 10.1016/S0140-6736(15)00465-1  0.317
2015 Paternoster L, Standl M, Waage J, Baurecht H, Hotze M, Strachan DP, Curtin JA, Bønnelykke K, Tian C, Takahashi A, Esparza-Gordillo J, Alves AC, Thyssen JP, den Dekker HT, Ferreira MA, ... ... Hakonarson H, et al. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nature Genetics. 47: 1449-56. PMID 26482879 DOI: 10.1038/Ng.3424  0.404
2015 Das A, Morley M, Moravec CS, Tang WH, Hakonarson H, Margulies KB, Cappola TP, Jensen S, Hannenhalli S. Bayesian integration of genetics and epigenetics detects causal regulatory SNPs underlying expression variability. Nature Communications. 6: 8555. PMID 26456756 DOI: 10.1038/Ncomms9555  0.364
2015 Roizen JD, Bradfield JP, Hakonarson H. Progress in Understanding Type 1 Diabetes Through Its Genetic Overlap with Other Autoimmune Diseases. Current Diabetes Reports. 15: 102. PMID 26454449 DOI: 10.1007/S11892-015-0668-4  0.35
2015 Li YR, Zhao SD, Li J, Bradfield JP, Mohebnasab M, Steel L, Kobie J, Abrams DJ, Mentch FD, Glessner JT, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, ... ... Hakonarson H, et al. Genetic sharing and heritability of paediatric age of onset autoimmune diseases. Nature Communications. 6: 8442. PMID 26450413 DOI: 10.1038/Ncomms9442  0.317
2015 Li YR, van Setten J, Verma SS, Lu Y, Holmes MV, Gao H, Lek M, Nair N, Chandrupatla H, Chang B, Karczewski KJ, Wong C, Mohebnasab M, Mukhtar E, Phillips R, ... ... Hakonarson H, et al. Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. Genome Medicine. 7: 90. PMID 26423053 DOI: 10.1186/S13073-015-0211-X  0.367
2015 Yellin JL, Trocle A, Grant SF, Hakonarson H, Shea KG, Ganley TJ. Candidate Loci are Revealed by an Initial Genome-wide Association Study of Juvenile Osteochondritis Dissecans. Journal of Pediatric Orthopedics. PMID 26422391 DOI: 10.1097/Bpo.0000000000000660  0.449
2015 Jiao H, Wang K, Yang F, Grant SF, Hakonarson H, Price RA, Li WD. Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls. Plos One. 10: e0134923. PMID 26308950 DOI: 10.1371/Journal.Pone.0134923  0.389
2015 Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, ... ... Hakonarson H, et al. Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. Nature Medicine. 21: 1018-27. PMID 26301688 DOI: 10.1038/Nm.3933  0.436
2015 Li WD, Jiao H, Wang K, Yang F, Grant SF, Hakonarson H, Ahima R, Arlen Price R. Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels. Scientific Reports. 5: 13422. PMID 26299439 DOI: 10.1038/Srep13422  0.36
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. Scientific Reports. 5: 13391. PMID 26292654 DOI: 10.1038/Srep13391  0.417
2015 Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzaléz R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, ... ... Hakonarson H, et al. Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions. Human Reproduction (Oxford, England). PMID 26209787 DOI: 10.1093/Humrep/Dev180  0.361
2015 Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, ... ... Hakonarson H, et al. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. Plos One. 10: e0133624. PMID 26197217 DOI: 10.1371/Journal.Pone.0133624  0.375
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, et al. Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy. Journal of Immunology (Baltimore, Md. : 1950). PMID 26188062 DOI: 10.4049/Jimmunol.1402310  0.331
2015 Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stančáková A, Faul JD, Zhao W, Bartz TM, ... ... Hakonarson H, et al. Directional dominance on stature and cognition in diverse human populations. Nature. 523: 459-62. PMID 26131930 DOI: 10.1038/Nature14618  0.36
2015 Chesi A, Mitchell JA, Kalkwarf HJ, Bradfield JP, Lappe JM, McCormack SE, Gilsanz V, Oberfield SE, Hakonarson H, Shepherd JA, Kelly A, Zemel BS, Grant SF. A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius. Human Molecular Genetics. PMID 26041818 DOI: 10.1093/Hmg/Ddv210  0.352
2015 Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, ... ... Hakonarson H, et al. The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 25936935 DOI: 10.1016/J.Jalz.2014.12.009  0.318
2015 Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, ... ... Hakonarson H, et al. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. Bmc Medical Genetics. 16: 16. PMID 25927548 DOI: 10.1186/S12881-015-0159-0  0.383
2015 Rodriguez S, Gaunt TR, Guo Y, Zheng J, Barnes MR, Tang W, Danish F, Johnson A, Castillo BA, Li YR, Hakonarson H, Buxbaum SG, Palmer T, Tsai MY, Lange LA, et al. Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array. European Journal of Human Genetics : Ejhg. PMID 25920552 DOI: 10.1038/Ejhg.2015.63  0.375
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, ... ... Hakonarson H, et al. Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. Nature Communications. 6: 6804. PMID 25891430 DOI: 10.1038/Ncomms7804  0.405
2015 Chang X, Li J, Guo Y, Wei Z, Mentch FD, Hou C, Zhao Y, Qiu H, Kim C, Sleiman PM, Hakonarson H. Genome-wide association study of serum minerals levels in children of different ethnic background. Plos One. 10: e0123499. PMID 25886283 DOI: 10.1371/Journal.Pone.0123499  0.34
2015 Satterthwaite TD, Connolly JJ, Ruparel K, Calkins ME, Jackson C, Elliott MA, Roalf DR, Ryan Hopsona KP, Behr M, Qiu H, Mentch FD, Chiavacci R, Sleiman PM, Gur RC, Hakonarson H, et al. The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth. Neuroimage. PMID 25840117 DOI: 10.1016/J.Neuroimage.2015.03.056  0.3
2015 Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, ... ... Hakonarson H, et al. Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals. Human Molecular Genetics. 24: 3582-94. PMID 25784503 DOI: 10.1093/Hmg/Ddv097  0.331
2015 Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H, Christodoulou J. Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. Clinical Genetics. PMID 25703294 DOI: 10.1111/Cge.12573  0.36
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, ... ... Hakonarson H, et al. Rare variants at 16p11.2 are associated with common variable immunodeficiency. The Journal of Allergy and Clinical Immunology. 135: 1569-77. PMID 25678086 DOI: 10.1016/J.Jaci.2014.12.1939  0.337
2015 Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, ... ... Hakonarson H, et al. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect. Neuromuscular Disorders : Nmd. 25: 257-61. PMID 25557462 DOI: 10.1016/J.Nmd.2014.11.017  0.324
2015 Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, ... ... Hakonarson H, et al. Rarity of the Alzheimer disease-protective APP A673T variant in the United States. Jama Neurology. 72: 209-16. PMID 25531812 DOI: 10.1001/Jamaneurol.2014.2157  0.309
2015 St Pourcain B, Haworth CM, Davis OS, Wang K, Timpson NJ, Evans DM, Kemp JP, Ronald A, Price T, Meaburn E, Ring SM, Golding J, Hakonarson H, Plomin R, Davey Smith G. Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence. Human Genetics. 134: 539-51. PMID 25515860 DOI: 10.1007/S00439-014-1514-5  0.337
2015 Sgariglia F, Pedrini E, Bradfield JP, Bhatti TR, D'Adamo P, Dormans JP, Gunawardena AT, Hakonarson H, Hecht JT, Sangiorgi L, Pacifici M, Enomoto-Iwamoto M, Grant SF. The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. Bone. 72: 123-7. PMID 25498973 DOI: 10.1016/J.Bone.2014.11.024  0.416
2015 Ellis JA, Scurrah KJ, Li YR, Ponsonby AL, Chavez RA, Pezic A, Dwyer T, Akikusa JD, Allen RC, Becker ML, Thompson SD, Lie BA, Flatø B, Førre O, Punaro M, ... ... Hakonarson H, et al. Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis. The Journal of Steroid Biochemistry and Molecular Biology. 145: 113-20. PMID 25460303 DOI: 10.1016/J.Jsbmb.2014.10.012  0.334
2015 Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, ... ... Hakonarson H, et al. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. Journal of Medical Genetics. 52: 104-10. PMID 25412741 DOI: 10.1136/Jmedgenet-2014-102677  0.313
2015 Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, ... ... Hakonarson H, et al. Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism. The Journal of Urology. 193: 1637-45. PMID 25390077 DOI: 10.1016/J.Juro.2014.10.097  0.391
2015 Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, ... Hakonarson H, et al. Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. Journal of Neurology. 262: 173-8. PMID 25359263 DOI: 10.1007/S00415-014-7553-Y  0.334
2015 van der Valk RJ, Kreiner-Møller E, Kooijman MN, Guxens M, Stergiakouli E, Sääf A, Bradfield JP, Geller F, Hayes MG, Cousminer DL, Körner A, Thiering E, Curtin JA, Myhre R, Huikari V, ... ... Hakonarson H, et al. A novel common variant in DCST2 is associated with length in early life and height in adulthood. Human Molecular Genetics. 24: 1155-68. PMID 25281659 DOI: 10.1093/Hmg/Ddu510  0.386
2015 Swerdlow DI, Preiss D, Kuchenbaecker KB, Holmes MV, Engmann JE, Shah T, Sofat R, Stender S, Johnson PC, Scott RA, Leusink M, Verweij N, Sharp SJ, Guo Y, Giambartolomei C, ... ... Hakonarson H, et al. HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials. Lancet (London, England). 385: 351-61. PMID 25262344 DOI: 10.1016/S0140-6736(14)61183-1  0.304
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. Human Molecular Genetics. 24: 265-73. PMID 25138779 DOI: 10.1093/Hmg/Ddu420  0.412
2015 Robinson EB, Kirby A, Ruparel K, Yang J, McGrath L, Anttila V, Neale BM, Merikangas K, Lehner T, Sleiman PM, Daly MJ, Gur R, Gur R, Hakonarson H. The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort. Molecular Psychiatry. 20: 454-8. PMID 25023143 DOI: 10.1038/Mp.2014.65  0.334
2015 Chawes BL, Bischoff AL, Kreiner-Møller E, Buchvald F, Hakonarson H, Bisgaard H. DENND1B gene variants associate with elevated exhaled nitric oxide in healthy high-risk neonates. Pediatric Pulmonology. 50: 109-17. PMID 24347560 DOI: 10.1002/Ppul.22958  0.367
2015 Hakonarson H, Grant SF. Genome-wide association studies (GWAS): impact on elucidating the aetiology of diabetes. Diabetes/Metabolism Research and Reviews. 27: 685-96. PMID 21630414 DOI: 10.1002/Dmrr.1221  0.374
2015 Chiaroni-Clarke R, Li YR, Munro J, Chavez R, Scurrah K, Pezic A, Akikusa J, Allen R, Piper S, Becker M, Thompson S, Lie B, Flato B, Forre O, Punaro M, ... ... Hakonarson H, et al. OP0282 The Association of PTPN22 RS2476601 with Juvenile Idiopathic Arthritis is Specific to Females Annals of the Rheumatic Diseases. 74: 179-179. DOI: 10.1136/Annrheumdis-2015-Eular.4256  0.333
2015 Freitag D, Butterworth AS, Willeit P, Howson JMM, Burgess S, Kaptoge S, Young R, Ho WK, Wood AM, Sweeting M, Spackman S, Staley JR, Ramond A, Harshfield E, Nielsen SF, ... ... Hakonarson H, et al. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: A Mendelian randomisation analysis The Lancet Diabetes and Endocrinology. 3: 243-253. DOI: 10.1016/S2213-8587(15)00034-0  0.321
2014 Sleiman PM, Wang ML, Cianferoni A, Aceves S, Gonsalves N, Nadeau K, Bredenoord AJ, Furuta GT, Spergel JM, Hakonarson H. GWAS identifies four novel eosinophilic esophagitis loci. Nature Communications. 5: 5593. PMID 25407941 DOI: 10.1038/Ncomms6593  0.412
2014 Capasso M, Diskin S, Cimmino F, Acierno G, Totaro F, Petrosino G, Pezone L, Diamond M, McDaniel L, Hakonarson H, Iolascon A, Devoto M, Maris JM. Common genetic variants in NEFL influence gene expression and neuroblastoma risk. Cancer Research. 74: 6913-24. PMID 25312269 DOI: 10.1158/0008-5472.Can-14-0431  0.425
2014 Zhang Y, Ghosh S, Hakonarson H. Dynamic Bayesian testing of sets of variants in complex diseases. Genetics. 198: 867-78. PMID 25217050 DOI: 10.1534/Genetics.114.167403  0.352
2014 Connolly JJ, Hakonarson H. Etiology of autism spectrum disorder: a genomics perspective. Current Psychiatry Reports. 16: 501. PMID 25212713 DOI: 10.1007/S11920-014-0501-9  0.347
2014 Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, ... ... Hakonarson H, et al. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation Research. 115: 884-96. PMID 25205790 DOI: 10.1161/Circresaha.115.304458  0.333
2014 Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, ... ... Hakonarson H, et al. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. Jama Neurology. 71: 1394-404. PMID 25199842 DOI: 10.1001/Jamaneurol.2014.1491  0.35
2014 Anney RJL, Avbersek A, Balding D, Baum L, Becker F, Berkovic SF, Bradfi JP, Brody LC, Buono RJ, Catarino CB, Cavalleri GL, Cherny SS, Chinthapalli K, Coffey AJ, Compston A, ... ... Hakonarson H, et al. Genetic determinants of common epilepsies: A meta-analysis of genome-wide association studies The Lancet Neurology. 13: 893-903. PMID 25087078 DOI: 10.1016/S1474-4422(14)70171-1  0.356
2014 Holmes MV, Dale CE, Zuccolo L, Silverwood RJ, Guo Y, Ye Z, Prieto-Merino D, Dehghan A, Trompet S, Wong A, Cavadino A, Drogan D, Padmanabhan S, Li S, Yesupriya A, ... ... Hakonarson H, et al. Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data. Bmj (Clinical Research Ed.). 349: g4164. PMID 25011450 DOI: 10.1136/Bmj.G4164  0.32
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, Glessner J, Hakonarson H. The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism. Nature Communications. 5: 4074. PMID 24927284 DOI: 10.1038/Ncomms5074  0.31
2014 Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, ... ... Hakonarson H, et al. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. Plos One. 9: e94661. PMID 24922517 DOI: 10.1371/Journal.Pone.0094661  0.381
2014 Cook-Sather SD, Li J, Goebel TK, Sussman EM, Rehman MA, Hakonarson H. TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population. Pain. 155: 1773-83. PMID 24909733 DOI: 10.1016/J.Pain.2014.05.032  0.382
2014 Almoguera B, Vazquez L, Connolly JJ, Bradfield J, Sleiman P, Keating B, Hakonarson H. Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes. Frontiers in Genetics. 5: 96. PMID 24860591 DOI: 10.3389/Fgene.2014.00096  0.384
2014 Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Mejia-Santana H, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, ... ... Hakonarson H, et al. Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. Human Molecular Genetics. 23: 4693-702. PMID 24842889 DOI: 10.1093/Hmg/Ddu158  0.367
2014 Sleiman P, Bradfield J, Mentch F, Almoguera B, Connolly J, Hakonarson H. Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts. Frontiers in Genetics. 5: 105. PMID 24808909 DOI: 10.3389/Fgene.2014.00105  0.363
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. PMID 24800985 DOI: 10.1371/Journal.Pone.0096057  0.409
2014 Cardinale CJ, Wei Z, Li J, Zhu J, Gu M, Baldassano RN, Grant SF, Hakonarson H. Transcriptome profiling of human ulcerative colitis mucosa reveals altered expression of pathways enriched in genetic susceptibility loci. Plos One. 9: e96153. PMID 24788701 DOI: 10.1371/Journal.Pone.0096153  0.355
2014 Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, ... ... Hakonarson H, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. American Journal of Human Genetics. 94: 677-94. PMID 24768552 DOI: 10.1016/J.Ajhg.2014.03.018  0.367
2014 Diskin SJ, Capasso M, Diamond M, Oldridge DA, Conkrite K, Bosse KR, Russell MR, Iolascon A, Hakonarson H, Devoto M, Maris JM. Rare variants in TP53 and susceptibility to neuroblastoma. Journal of the National Cancer Institute. 106: dju047. PMID 24634504 DOI: 10.1093/Jnci/Dju047  0.377
2014 Li M, Jia C, Kazmierkiewicz KL, Bowman AS, Tian L, Liu Y, Gupta NA, Gudiseva HV, Yee SS, Kim M, Dentchev T, Kimble JA, Parker JS, Messinger JD, Hakonarson H, et al. Comprehensive analysis of gene expression in human retina and supporting tissues. Human Molecular Genetics. 23: 4001-14. PMID 24634144 DOI: 10.1093/Hmg/Ddu114  0.311
2014 Araujo AN, Moraes L, França MI, Hakonarson H, Li J, Pellegrino R, Maciel RM, Cerutti JM. Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis. The Journal of Clinical Endocrinology and Metabolism. 99: E1104-12. PMID 24601688 DOI: 10.1210/Jc.2013-2993  0.321
2014 Purkey MT, Li J, Mentch F, Grant SF, Desrosiers M, Hakonarson H, Toskala E. Genetic variation in genes encoding airway epithelial potassium channels is associated with chronic rhinosinusitis in a pediatric population. Plos One. 9: e89329. PMID 24595210 DOI: 10.1371/Journal.Pone.0089329  0.369
2014 St Pourcain B, Skuse DH, Mandy WP, Wang K, Hakonarson H, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Smith GD. Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. Molecular Autism. 5: 18. PMID 24564958 DOI: 10.1186/2040-2392-5-18  0.38
2014 Tragante V, Barnes MR, Ganesh SK, Lanktree MB, Guo W, Franceschini N, Smith EN, Johnson T, Holmes MV, Padmanabhan S, Karczewski KJ, Almoguera B, Barnard J, Baumert J, Chang YP, ... ... Hakonarson H, et al. Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. American Journal of Human Genetics. 94: 349-60. PMID 24560520 DOI: 10.1016/J.Ajhg.2013.12.016  0.369
2014 Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, et al. Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. Ophthalmic Genetics. PMID 24547928 DOI: 10.3109/13816810.2014.886269  0.343
2014 Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, ... ... Hakonarson H, et al. A genome-wide association study of anorexia nervosa. Molecular Psychiatry. 19: 1085-94. PMID 24514567 DOI: 10.1038/Mp.2013.187  0.402
2014 Wang X, Liu W, Sun CL, Armenian SH, Hakonarson H, Hageman L, Ding Y, Landier W, Blanco JG, Chen L, Quiñones A, Ferguson D, Winick N, Ginsberg JP, Keller F, et al. Hyaluronan synthase 3 variant and anthracycline-related cardiomyopathy: a report from the children's oncology group. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. 32: 647-53. PMID 24470002 DOI: 10.1200/Jco.2013.50.3557  0.304
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, ... ... Hakonarson H, et al. Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population. Molecular Autism. 5: 5. PMID 24467814 DOI: 10.1186/2040-2392-5-5  0.365
2014 Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, ... ... Hakonarson H, et al. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Human Molecular Genetics. 23: 2888-900. PMID 24403048 DOI: 10.1093/Hmg/Ddu002  0.323
2014 Yoneyama S, Guo Y, Lanktree MB, Barnes MR, Elbers CC, Karczewski KJ, Padmanabhan S, Bauer F, Baumert J, Beitelshees A, Berenson GS, Boer JM, Burke G, Cade B, Chen W, ... ... Hakonarson H, et al. Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. Human Molecular Genetics. 23: 2498-510. PMID 24345515 DOI: 10.1093/Hmg/Ddt626  0.359
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. Clinical and Experimental Immunology. 177: 269-71. PMID 24329717 DOI: 10.1111/Cei.12255  0.328
2014 van der Valk RJ, Duijts L, Timpson NJ, Salam MT, Standl M, Curtin JA, Genuneit J, Kerhof M, Kreiner-Møller E, Cáceres A, Gref A, Liang LL, Taal HR, Bouzigon E, Demenais F, ... ... Hakonarson H, et al. Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. The Journal of Allergy and Clinical Immunology. 134: 46-55. PMID 24315451 DOI: 10.1016/J.Jaci.2013.08.053  0.304
2014 Li YR, Levine JE, Hakonarson H, Keating BJ. Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation. European Journal of Human Genetics : Ejhg. 22: 715-23. PMID 24253860 DOI: 10.1038/Ejhg.2013.247  0.301
2014 Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, Mortensen LJ, Paternoster L, Flaaten R, Mølgaard A, Smart DE, ... ... Hakonarson H, et al. A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. Nature Genetics. 46: 51-5. PMID 24241537 DOI: 10.1038/Ng.2830  0.356
2014 Babushok DV, Xie HM, Roth JJ, Perdigones N, Olson TS, Cockroft JD, Gai X, Perin JC, Li Y, Paessler ME, Hakonarson H, Podsakoff GM, Mason PJ, Biegel JA, Bessler M. Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. British Journal of Haematology. 164: 73-82. PMID 24116929 DOI: 10.1182/Blood.V122.21.3710.3710  0.384
2014 Tsai EA, Grochowski CM, Loomes KM, Bessho K, Hakonarson H, Bezerra JA, Russo PA, Haber BA, Spinner NB, Devoto M. Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Human Genetics. 133: 235-43. PMID 24104524 DOI: 10.1007/S00439-013-1368-2  0.4
2014 Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. The Journal of Investigative Dermatology. 134: 658-65. PMID 24008425 DOI: 10.1038/Jid.2013.370  0.347
2014 Mortensen LJ, Kreiner-Møller E, Hakonarson H, Bønnelykke K, Bisgaard H. The PCDH1 gene and asthma in early childhood European Respiratory Journal. 43: 792-800. PMID 23988763 DOI: 10.1183/09031936.00021613  0.332
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. Molecular Psychiatry. 19: 568-72. PMID 23689535 DOI: 10.1038/Mp.2013.59  0.346
2014 Ramanan VK, Risacher SL, Nho K, Kim S, Swaminathan S, Shen L, Foroud TM, Hakonarson H, Huentelman MJ, Aisen PS, Petersen RC, Green RC, Jack CR, Koeppe RA, Jagust WJ, et al. APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Molecular Psychiatry. 19: 351-7. PMID 23419831 DOI: 10.1038/Mp.2013.19  0.379
2014 Perdigones N, Babushok DV, Tian L, Bradfield J, Kim CE, Perin JC, Hakonarson H, Bessler M, Mason PJ. An Acquired Mutation in Deubiquitinating Enzyme USP11 Associated with Clonal Hematopoiesis in Diamond Blackfan Anemia Blood. 124: 1596-1596. DOI: 10.1182/Blood.V124.21.1596.1596  0.336
2014 Ramanan VK, Nho K, Risacher SL, Kim S, Shen L, Swaminathan S, Foroud TM, Aisen P, Hakonarson H, Huentelman M, Jack C, Jagust W, Petersen RC, Potkin S, Shaw L, et al. P3-024: NEXT-GENERATION SEQUENCING OF THE BCHE LOCUS IDENTIFIES A FUNCTIONAL SNP ASSOCIATED WITH ALZHEIMER'S DISEASE BIOMARKERS AND AGE OF ONSET Alzheimer's & Dementia. 10: P636-P636. DOI: 10.1016/J.Jalz.2014.05.1111  0.378
2014 Glessner JT, Connolly JJ, Hakonarson H. Genome-Wide Association Studies of Autism Current Behavioral Neuroscience Reports. 1: 234-241. DOI: 10.1007/S40473-014-0023-0  0.44
2013 Bakay M, Pandey R, Hakonarson H. Genes involved in type 1 diabetes: an update. Genes. 4: 499-521. PMID 24705215 DOI: 10.3390/Genes4030499  0.417
2013 Cardinale CJ, Kelsen JR, Baldassano RN, Hakonarson H. Impact of exome sequencing in inflammatory bowel disease. World Journal of Gastroenterology : Wjg. 19: 6721-9. PMID 24187447 DOI: 10.3748/Wjg.V19.I40.6721  0.372
2013 Sleiman P, Wang D, Glessner J, Hadley D, Gur RE, Cohen N, Li Q, Hakonarson H. GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. Scientific Reports. 3: 3075. PMID 24166486 DOI: 10.1038/Srep03075  0.334
2013 Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, ... ... Hakonarson H, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature Genetics. 45: 1452-8. PMID 24162737 DOI: 10.1038/Ng.2802  0.378
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, et al. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Plos Genetics. 9: e1003823. PMID 24098143 DOI: 10.1371/Journal.Pgen.1003823  0.346
2013 Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, ... ... Hakonarson H, et al. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nature Genetics. 45: 1353-60. PMID 24076602 DOI: 10.1038/Ng.2770  0.387
2013 Chatsuriyawong S, Gozal D, Kheirandish-Gozal L, Bhattacharjee R, Khalyfa AA, Wang Y, Hakonarson H, Keating B, Sukhumsirichart W, Khalyfa A. Genetic variance in nitric oxide synthase and endothelin genes among children with and without endothelial dysfunction. Journal of Translational Medicine. 11: 227. PMID 24063765 DOI: 10.1186/1479-5876-11-227  0.366
2013 Ong BA, Li J, McDonough JM, Wei Z, Kim C, Chiavacci R, Mentch F, Caboot JB, Spergel J, Allen JL, Sleiman PM, Hakonarson H. Gene network analysis in a pediatric cohort identifies novel lung function genes. Plos One. 8: e72899. PMID 24023788 DOI: 10.1371/Journal.Pone.0072899  0.357
2013 Cardinale CJ, Wei Z, Panossian S, Wang F, Kim CE, Mentch FD, Chiavacci RM, Kachelries KE, Pandey R, Grant SF, Baldassano RN, Hakonarson H. Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease. Genes and Immunity. 14: 447-52. PMID 23965943 DOI: 10.1038/Gene.2013.43  0.355
2013 Best LG, Saxena R, Anderson CM, Barnes MR, Hakonarson H, Falcon G, Martin C, Castillo BA, Karumanchi A, Keplin K, Pearson N, Lamb F, Bercier S, Keating BJ. Two variants of the C-reactive protein gene are associated with risk of pre-eclampsia in an American Indian population. Plos One. 8: e71231. PMID 23940726 DOI: 10.1371/Journal.Pone.0071231  0.363
2013 Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Hakonarson H, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711  0.304
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, et al. PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. American Journal of Medical Genetics. Part A. 161: 2134-47. PMID 23897863 DOI: 10.1002/Ajmg.A.36038  0.395
2013 Wang K, Kim C, Bradfield J, Guo Y, Toskala E, Otieno FG, Hou C, Thomas K, Cardinale C, Lyon GJ, Golhar R, Hakonarson H. Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. Genome Medicine. 5: 67. PMID 23889995 DOI: 10.1186/Gm471  0.385
2013 Noti M, Wojno ED, Kim BS, Siracusa MC, Giacomin PR, Nair MG, Benitez AJ, Ruymann KR, Muir AB, Hill DA, Chikwava KR, Moghaddam AE, Sattentau QJ, Alex A, Zhou C, ... ... Hakonarson H, et al. Thymic stromal lymphopoietin-elicited basophil responses promote eosinophilic esophagitis. Nature Medicine. 19: 1005-13. PMID 23872715 DOI: 10.1038/Nm.3281  0.331
2013 Al Daama SA, Housawi YH, Dridi W, Sager M, Otieno FG, Hou C, Vasquez L, Kim C, Tian L, Sleiman P, Hakonarson H. A missense mutation in ANKRD26 segregates with thrombocytopenia Blood. 122: 461-462. PMID 23869080 DOI: 10.1182/Blood-2013-03-489344  0.313
2013 Pinney SE, Ganapathy K, Bradfield J, Stokes D, Sasson A, Mackiewicz K, Boodhansingh K, Hughes N, Becker S, Givler S, Macmullen C, Monos D, Ganguly A, Hakonarson H, Stanley CA. Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. Hormone Research in Pã¦Diatrics. 80: 18-27. PMID 23859901 DOI: 10.1159/000351943  0.306
2013 Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, ... ... Hakonarson H, et al. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 761-71. PMID 23743551 DOI: 10.1038/Gim.2013.72  0.307
2013 Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, ... ... Hakonarson H, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. American Journal of Human Genetics. 92: 1001-7. PMID 23731542 DOI: 10.1016/J.Ajhg.2013.04.024  0.308
2013 Wei Z, Wang W, Bradfield J, Li J, Cardinale C, Frackelton E, Kim C, Mentch F, Van Steen K, Visscher PM, Baldassano RN, Hakonarson H. Large sample size, wide variant spectrum, and advanced machine-learning technique boost risk prediction for inflammatory bowel disease American Journal of Human Genetics. 92: 1008-1012. PMID 23731541 DOI: 10.1016/J.Ajhg.2013.05.002  0.307
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, Md.). 21: E490-4. PMID 23703922 DOI: 10.1002/Oby.20303  0.381
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, ... ... Hakonarson H, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-3. PMID 23665959 DOI: 10.1038/Nature12141  0.304
2013 March ME, Sleiman PM, Hakonarson H. Genetic polymorphisms and associated susceptibility to asthma. International Journal of General Medicine. 6: 253-65. PMID 23637549 DOI: 10.2147/Ijgm.S28156  0.361
2013 Zhang W, Hui KY, Gusev A, Warner N, Ng SM, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick RJ, Cardinale CJ, Hakonarson H, Waterman M, Chowers Y, et al. Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes and Immunity. 14: 310-6. PMID 23615072 DOI: 10.1038/Gene.2013.19  0.382
2013 Hamshere ML, Langley K, Martin J, Agha SS, Stergiakouli E, Anney RJ, Buitelaar J, Faraone SV, Lesch KP, Neale BM, Franke B, Sonuga-Barke E, Asherson P, Merwood A, Kuntsi J, ... ... Hakonarson H, et al. High loading of polygenic risk for ADHD in children with comorbid aggression. The American Journal of Psychiatry. 170: 909-16. PMID 23599091 DOI: 10.1176/Appi.Ajp.2013.12081129  0.31
2013 Shi L, Zhang X, Golhar R, Otieno FG, He M, Hou C, Kim C, Keating B, Lyon GJ, Wang K, Hakonarson H. Whole-genome sequencing in an autism multiplex family. Molecular Autism. 4: 8. PMID 23597238 DOI: 10.1186/2040-2392-4-8  0.398
2013 Monda KL, Chen GK, Taylor KC, Palmer C, Edwards TL, Lange LA, Ng MC, Adeyemo AA, Allison MA, Bielak LF, Chen G, Graff M, Irvin MR, Rhie SK, Li G, ... ... Hakonarson H, et al. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nature Genetics. 45: 690-6. PMID 23583978 DOI: 10.1038/Ng.2608  0.379
2013 O'Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Medicine. 5: 28. PMID 23537139 DOI: 10.1186/Gm432  0.342
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, et al. The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry. Obesity (Silver Spring, Md.). 21: 159-63. PMID 23505181 DOI: 10.1002/Oby.20147  0.332
2013 Cousminer DL, Berry DJ, Timpson NJ, Ang W, Thiering E, Byrne EM, Taal HR, Huikari V, Bradfield JP, Kerkhof M, Groen-Blokhuis MM, Kreiner-Møller E, Marinelli M, Holst C, Leinonen JT, ... ... Hakonarson H, et al. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Human Molecular Genetics. 22: 2735-47. PMID 23449627 DOI: 10.1093/Hmg/Ddt104  0.323
2013 Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, Li J, Lu Y, Yanek LR, Keating B, Meng Y, van Rooij FJ, Okada Y, Kubo M, Rasmussen-Torvik L, ... ... Hakonarson H, et al. Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Human Molecular Genetics. 22: 2529-38. PMID 23446634 DOI: 10.1093/Hmg/Ddt087  0.425
2013 Hakonarson H. Ask the experts: pharmacogenomics and genome-wide association studies. Pharmacogenomics. 14: 365-368. PMID 23438883 DOI: 10.2217/Pgs.13.16  0.353
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, ... ... Hakonarson H, et al. Copy number variations in alternative splicing gene networks impact lifespan. Plos One. 8: e53846. PMID 23382853 DOI: 10.1371/Journal.Pone.0053846  0.383
2013 Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D, Devoto M, Krantz ID. Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus American Journal of Otolaryngology - Head and Neck Medicine and Surgery. 34: 230-235. PMID 23374487 DOI: 10.1016/J.Amjoto.2012.11.002  0.324
2013 Matsunami N, Hadley D, Hensel CH, Christensen GB, Kim C, Frackelton E, Thomas K, da Silva RP, Stevens J, Baird L, Otterud B, Ho K, Varvil T, Leppert T, Lambert CG, ... ... Hakonarson H, et al. Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. Plos One. 8: e52239. PMID 23341896 DOI: 10.1371/Journal.Pone.0052239  0.378
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. Gastroenterology. 144: 1107-1115.e3. PMID 23336978 DOI: 10.1053/J.Gastro.2013.01.022  0.391
2013 Ganesh SK, Tragante V, Guo W, Guo Y, Lanktree MB, Smith EN, Johnson T, Castillo BA, Barnard J, Baumert J, Chang YP, Elbers CC, Farrall M, Fischer ME, Franceschini N, ... ... Hakonarson H, et al. Loci influencing blood pressure identified using a cardiovascular gene-centric array. Human Molecular Genetics. 22: 1663-78. PMID 23303523 DOI: 10.1093/Hmg/Dds555  0.394
2013 Glessner JT, Li J, Hakonarson H. ParseCNV integrative copy number variation association software with quality tracking. Nucleic Acids Research. 41: e64. PMID 23293001 DOI: 10.1093/Nar/Gks1346  0.34
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, et al. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. Human Molecular Genetics. 22: 1457-64. PMID 23263863 DOI: 10.1093/Hmg/Dds534  0.393
2013 Capasso M, Diskin SJ, Totaro F, Longo L, De Mariano M, Russo R, Cimmino F, Hakonarson H, Tonini GP, Devoto M, Maris JM, Iolascon A. Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis. 34: 605-11. PMID 23222812 DOI: 10.1093/Carcin/Bgs380  0.412
2013 Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, Kaakinen M, Cousminer DL, Lehtimäki T, Kreiner-Møller E, Warrington NM, ... ... Hakonarson H, et al. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics. 45: 76-82. PMID 23202124 DOI: 10.1038/Ng.2477  0.365
2013 Guo Y, Lanktree MB, Taylor KC, Hakonarson H, Lange LA, Keating BJ, Fairfax BP, Elbers CC, Barnard J, Farrall M, Padmanabhan S, Baumert J, Castillo BA, Gaunt TR, Gong Y, et al. Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals Human Molecular Genetics. 22: 184-201. PMID 23001569 DOI: 10.1093/Hmg/Dds396  0.387
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 Development. 84: 17-33. PMID 22935194 DOI: 10.1111/J.1467-8624.2012.01838.X  0.37
2013 Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. Allele frequency distributions of all HapMap SNPs (black), Illumina 1M SNPs (blue), and GWAS associations in CEU (red), and simulated synthetic associations (green). Plos Biology. DOI: 10.1371/Journal.Pbio.1000294.G005  0.316
2013 Diskin SJ, Capasso M, Diamond M, Bosse K, Hakonarson H, Devoto M, Maris JM. Abstract 3811: Rare variants at 16p11.2 and withinTP53influence neuroblastoma susceptibility. Cancer Research. 73: 3811-3811. DOI: 10.1158/1538-7445.Am2013-3811  0.408
2013 Cardinale C, Wei Z, Li J, Zhu J, Baldassano R, Grant S, Hakonarson H. O-021 Expression of Transcripts in Ulcerative Colitis Biopsies and Genome-wide Association Study Loci Overlap Substantially in Pathway-based Analysis Inflammatory Bowel Diseases. 19: S14. DOI: 10.1097/01.Mib.0000438572.40883.Bc  0.329
2013 Keller M, Glessner J, Hakonarson H, Orange J. IFR2BP2 Mutations Identified As a Novel Genetic Cause of Familial Common Variable Immunodeficiency Identified Via Support Vector Algorithm and Whole Exome Sequencing Journal of Allergy and Clinical Immunology. 131: AB140. DOI: 10.1016/J.Jaci.2012.12.1163  0.304
2013 Tait Wojno ED, Noti M, Kim BS, Siracusa MC, Giacomin PR, Nair MG, Benitez AJ, Ruymann KR, Muir AB, Hill DA, Chikwava KR, Moghaddam AE, Sattentau QJ, Alex A, Zhou C, ... ... Hakonarson H, et al. 282 Cytokine. 63: 310. DOI: 10.1016/J.Cyto.2013.06.285  0.344
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, ... ... Hakonarson H, et al. Examination of genetic variants influencing lipid traits in pediatric populations. Journal of Pediatric Genetics. 1: 85-98. PMID 27625808 DOI: 10.3233/Pge-2012-016  0.346
2012 Elbers CC, Guo Y, Tragante V, van Iperen EP, Lanktree MB, Castillo BA, Chen F, Yanek LR, Wojczynski MK, Li YR, Ferwerda B, Ballantyne CM, Buxbaum SG, Chen YD, Chen WM, ... ... Hakonarson H, et al. Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. Plos One. 7: e50198. PMID 23236364 DOI: 10.1371/Journal.Pone.0050198  0.358
2012 Lasky-Su J, Himes BE, Raby BA, Klanderman BJ, Sylvia JS, Lange C, Melen E, Martinez FD, Israel E, Gauderman J, Gilliland F, Sleiman P, Hakonarson H, Celedón JC, Soto-Quiros M, et al. HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults. Clinical and Experimental Allergy : Journal of the British Society For Allergy and Clinical Immunology. 42: 1724-33. PMID 23181788 DOI: 10.1111/Cea.12000  0.346
2012 Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID. Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. American Journal of Medical Genetics. Part A. 158: 3046-53. PMID 23169773 DOI: 10.1002/Ajmg.A.35726  0.324
2012 Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, ... ... Hakonarson H, et al. Copy-number disorders are a common cause of congenital kidney malformations. American Journal of Human Genetics. 91: 987-97. PMID 23159250 DOI: 10.1016/J.Ajhg.2012.10.007  0.373
2012 Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, ... ... Hakonarson H, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 491: 119-24. PMID 23128233 DOI: 10.1038/Nature11582  0.399
2012 Asselbergs FW, Guo Y, van Iperen EP, Sivapalaratnam S, Tragante V, Lanktree MB, Lange LA, Almoguera B, Appelman YE, Barnard J, Baumert J, Beitelshees AL, Bhangale TR, Chen YD, Gaunt TR, ... ... Hakonarson H, et al. Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. American Journal of Human Genetics. 91: 823-38. PMID 23063622 DOI: 10.1016/J.Ajhg.2012.08.032  0.334
2012 Kim DS, Stanaway IB, Rajagopalan R, Bernbaum JC, Solot CB, Burnham N, Zackai EH, Clancy RR, Nicolson SC, Gerdes M, Nickerson DA, Hakonarson H, Gaynor JW, Jarvik GP. Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy. Plos One. 7: e45936. PMID 23049896 DOI: 10.1371/Journal.Pone.0045936  0.307
2012 Diskin SJ, Capasso M, Schnepp RW, Cole KA, Attiyeh EF, Hou C, Diamond M, Carpenter EL, Winter C, Lee H, Jagannathan J, Latorre V, Iolascon A, Hakonarson H, Devoto M, et al. Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nature Genetics. 44: 1126-30. PMID 22941191 DOI: 10.1038/Ng.2387  0.383
2012 Levinson DF, Shi J, Wang K, Oh S, Riley B, Pulver AE, Wildenauer DB, Laurent C, Mowry BJ, Gejman PV, Owen MJ, Kendler KS, Nestadt G, Schwab SG, Mallet J, ... ... Hakonarson H, et al. Genome-wide association study of multiplex schizophrenia pedigrees. The American Journal of Psychiatry. 169: 963-73. PMID 22885689 DOI: 10.1176/Appi.Ajp.2012.11091423  0.387
2012 Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, ... ... Hakonarson H, et al. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Human Molecular Genetics. 21: 4781-92. PMID 22843504 DOI: 10.1093/Hmg/Dds301  0.419
2012 Kang G, Lin D, Hakonarson H, Chen J. Two-stage extreme phenotype sequencing design for discovering and testing common and rare genetic variants: efficiency and power. Human Heredity. 73: 139-47. PMID 22678112 DOI: 10.1159/000337300  0.34
2012 Connolly JJ, Hakonarson H. Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing. Journal of Biomedicine & Biotechnology. 2012: 798924. PMID 22654485 DOI: 10.1155/2012/798924  0.365
2012 Connolly JJ, Hakonarson H. The impact of genomics on pediatric research and medicine. Pediatrics. 129: 1150-60. PMID 22566424 DOI: 10.1542/Peds.2011-3636  0.354
2012 Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, ... ... Hakonarson H, et al. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics. 44: 532-8. PMID 22504419 DOI: 10.1038/Ng.2238  0.378
2012 Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Taal HR, Mook-Kanamori DO, Coker LH, Longstreth WT, Niessen WJ, DeStefano AL, ... ... Hakonarson H, et al. Common variants at 6q22 and 17q21 are associated with intracranial volume. Nature Genetics. 44: 539-44. PMID 22504418 DOI: 10.1038/Ng.2245  0.335
2012 Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, Salem RM, Schumacher FR, Cousminer DL, Sleiman PM, Zhao J, ... ... Hakonarson H, et al. A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics. 44: 526-31. PMID 22484627 DOI: 10.1038/Ng.2247  0.367
2012 Dougherty MJ, Tooke LS, Sullivan LM, Hakonarson H, Wainwright LM, Biegel JA. Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors. Cancer Genetics. 205: 42-54. PMID 22429597 DOI: 10.1016/J.Cancergen.2012.01.014  0.316
2012 Williams NM, Franke B, Mick E, Anney RJ, Freitag CM, Gill M, Thapar A, O'Donovan MC, Owen MJ, Holmans P, Kent L, Middleton F, Zhang-James Y, Liu L, Meyer J, ... ... Hakonarson H, et al. Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. The American Journal of Psychiatry. 169: 195-204. PMID 22420048 DOI: 10.1176/Appi.Ajp.2011.11060822  0.344
2012 Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, ... ... Hakonarson H, et al. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. Plos Genetics. 8: e1002559. PMID 22412388 DOI: 10.1371/Journal.Pgen.1002559  0.411
2012 Bosse KR, Diskin SJ, Cole KA, Wood AC, Schnepp RW, Norris G, Nguyen le B, Jagannathan J, Laquaglia M, Winter C, Diamond M, Hou C, Attiyeh EF, Mosse YP, Pineros V, ... ... Hakonarson H, et al. Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer Research. 72: 2068-78. PMID 22350409 DOI: 10.1158/0008-5472.Can-11-3703  0.38
2012 Latorre V, Diskin SJ, Diamond MA, Zhang H, Hakonarson H, Maris JM, Devoto M. Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 21: 658-63. PMID 22328350 DOI: 10.1158/1055-9965.Epi-11-0830  0.372
2012 Saxena R, Elbers CC, Guo Y, Peter I, Gaunt TR, Mega JL, Lanktree MB, Tare A, Castillo BA, Li YR, Johnson T, Bruinenberg M, Gilbert-Diamond D, Rajagopalan R, Voight BF, ... ... Hakonarson H, et al. Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. American Journal of Human Genetics. 90: 410-25. PMID 22325160 DOI: 10.1016/J.Ajhg.2011.12.022  0.423
2012 Peter I, McCaffery JM, Kelley-Hedgepeth A, Hakonarson H, Reis S, Wagenknecht LE, Kopin AS, Huggins GS. Association of type 2 diabetes susceptibility loci with one-year weight loss in the look AHEAD clinical trial. Obesity (Silver Spring, Md.). 20: 1675-82. PMID 22307069 DOI: 10.1038/Oby.2012.11  0.375
2012 Christie JD, Wurfel MM, Feng R, O'Keefe GE, Bradfield J, Ware LB, Christiani DC, Calfee CS, Cohen MJ, Matthay M, Meyer NJ, Kim C, Li M, Akey J, Barnes KC, ... ... Hakonarson H, et al. Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma. Plos One. 7: e28268. PMID 22295056 DOI: 10.1371/Journal.Pone.0028268  0.385
2012 Glessner JT, Connolly JJ, Hakonarson H. Rare genomic deletions and duplications and their role in neurodevelopmental disorders. Current Topics in Behavioral Neurosciences. 12: 345-60. PMID 22241247 DOI: 10.1007/7854_2011_179  0.323
2012 Paternoster L, Standl M, Chen CM, Ramasamy A, Bønnelykke K, Duijts L, Ferreira MA, Alves AC, Thyssen JP, Albrecht E, Baurecht H, Feenstra B, Sleiman PM, Hysi P, Warrington NM, ... ... Hakonarson H, et al. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nature Genetics. 44: 187-92. PMID 22197932 DOI: 10.1038/Ng.1017  0.416
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, ... ... Hakonarson H, et al. Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biological Psychiatry. 71: 392-402. PMID 22169095 DOI: 10.1016/J.Biopsych.2011.09.034  0.379
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. American Journal of Medical Genetics. Part A. 158: 298-308. PMID 22147502 DOI: 10.1002/Ajmg.A.34391  0.404
2012 Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, ... ... Hakonarson H, et al. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature Genetics. 44: 78-84. PMID 22138692 DOI: 10.1038/Ng.1013  0.364
2012 Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, ... ... Hakonarson H, et al. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Human Genetics. 131: 565-79. PMID 21996756 DOI: 10.1007/S00439-011-1094-6  0.417
2012 Huff CD, Witherspoon DJ, Zhang Y, Gatenbee C, Denson LA, Kugathasan S, Hakonarson H, Whiting A, Davis CT, Wu W, Xing J, Watkins WS, Bamshad MJ, Bradfield JP, Bulayeva K, et al. Crohn's disease and genetic hitchhiking at IBD5. Molecular Biology and Evolution. 29: 101-11. PMID 21816865 DOI: 10.1093/Molbev/Msr151  0.361
2012 Jain M, Vélez JI, Acosta MT, Palacio LG, Balog J, Roessler E, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Seitz C, Freitag CM, et al. A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD. Molecular Psychiatry. 17: 741-7. PMID 21606926 DOI: 10.1038/Mp.2011.59  0.331
2012 Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS. Rare structural variation of synapse and neurotransmission genes in autism. Molecular Psychiatry. 17: 402-11. PMID 21358714 DOI: 10.1038/Mp.2011.10  0.386
2012 Lyon G, Jiang T, Wijk RV, Wang W, Bodily P, Xing J, Tian L, Robison R, Clement M, Yang L, Zhang P, Liu Y, Moore B, Solinge Wv, Yandell M, ... Hakonarson H, et al. Whole exome sequencing reveals the genetic basis of a case of idiopathic hemolytic anemia and suggests candidate rare variants for ADHD in a Utah pedigree F1000research. 3. DOI: 10.7490/F1000Research.1089758.1  0.339
2012 Bakay M, Hakonarson H. What have genome-wide association studies contributed to the understanding of the pathogenesis and future management of Type 1 diabetes? Diabetes Management. 2: 77-80. DOI: 10.2217/Dmt.11.77  0.379
2012 Wang K, Li W, Zhang CK, Wang Z, Glessner JT, Grant SFA, Zhao H, Hakonarson H, Price RA. Correction: A Genome-Wide Association Study on Obesity and Obesity-Related Traits Plos One. 7. DOI: 10.1371/Annotation/A34Ee94E-3E6A-48Bd-A19E-398A4Bb88580  0.33
2012 Tian L, Piterkova L, Wang L, Ye Z, Cheng L, Wheeler DA, Hakonarson H, Prchal JT. Whole Genome Sequencing of Four CD34+-Derived iPSC Polycythemia Vera Clones From a Single Female Blood. 120: 1755-1755. DOI: 10.1182/Blood.V120.21.1755.1755  0.403
2012 Diskin SJ, Capasso M, Latorre V, Schnepp R, Attiyeh EF, Diamond M, Hou C, Carpenter EL, Lee H, Cole KA, Asgharzadeh S, Hakonarson H, Devoto M, Maris JM. Abstract 4871: New neuroblastoma susceptibility loci at 6q21 withinHACE1andLIN28B Cancer Research. 72: 4871-4871. DOI: 10.1158/1538-7445.Am2012-4871  0.397
2012 Lanktree M, Guo Y, Murtaza M, Glessner J, Bailey S, Onland-Moret N, Lettre G, Ongen H, Rajagopalan R, Johnson T, Shen H, Nelson C, Klopp N, Baumert J, Padmanabhan S, ... ... Hakonarson H, et al. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height The American Journal of Human Genetics. 90: 1116-1117. DOI: 10.1016/J.Ajhg.2012.05.017  0.363
2011 Wang K, Edmondson AC, Li M, Gao F, Qasim AN, Devaney JM, Burnett MS, Waterworth DM, Mooser V, Grant SF, Epstein SE, Reilly MP, Hakonarson H, Rader DJ. Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation. Frontiers in Genetics. 2: 41. PMID 22303337 DOI: 10.3389/Fgene.2011.00041  0.362
2011 Chung RH, Ma D, Wang K, Hedges DJ, Jaworski JM, Gilbert JR, Cuccaro ML, Wright HH, Abramson RK, Konidari I, Whitehead PL, Schellenberg GD, Hakonarson H, Haines JL, Pericak-Vance MA, et al. An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Molecular Autism. 2: 18. PMID 22050706 DOI: 10.1186/2040-2392-2-18  0.373
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. Congenital Heart Disease. 6: 592-602. PMID 22010865 DOI: 10.1111/J.1747-0803.2011.00582.X  0.377
2011 Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. Mosaic trisomy 17: variable clinical and cytogenetic presentation. American Journal of Medical Genetics. Part A. 155: 2489-95. PMID 21998853 DOI: 10.1002/Ajmg.A.34172  0.303
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, ... ... Hakonarson H, et al. A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Plos Genetics. 7: e1002293. PMID 21980299 DOI: 10.1371/Journal.Pgen.1002293  0.429
2011 Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, ... ... Hakonarson H, et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 476: 214-9. PMID 21833088 DOI: 10.1038/Nature10251  0.414
2011 Wei Z, Wang W, Hu P, Lyon GJ, Hakonarson H. SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data. Nucleic Acids Research. 39: e132. PMID 21813454 DOI: 10.1093/Nar/Gkr599  0.319
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, Md.). 19: 2436-9. PMID 21779088 DOI: 10.1038/Oby.2011.237  0.333
2011 Hinch AG, Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, Chen GK, Wang K, Buxbaum SG, Akylbekova EL, Aldrich MC, Ambrosone CB, Amos C, Bandera EV, Berndt SI, ... ... Hakonarson H, et al. The landscape of recombination in African Americans. Nature. 476: 170-5. PMID 21775986 DOI: 10.1038/Nature10336  0.366
2011 Devoto M, Specchia C, Laudenslager M, Longo L, Hakonarson H, Maris J, Mossé Y. Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma. Human Heredity. 71: 135-9. PMID 21734404 DOI: 10.1159/000324843  0.355
2011 Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, ... ... Hakonarson H, et al. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. American Journal of Human Genetics. 89: 28-43. PMID 21700266 DOI: 10.1016/J.Ajhg.2011.05.017  0.349
2011 Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, ... ... Hakonarson H, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nature Genetics. 43: 699-705. PMID 21685912 DOI: 10.1038/Ng.859  0.39
2011 Wild PS, Zeller T, Schillert A, Szymczak S, Sinning CR, Deiseroth A, Schnabel RB, Lubos E, Keller T, Eleftheriadis MS, Bickel C, Rupprecht HJ, Wilde S, Rossmann H, Diemert P, ... ... Hakonarson H, et al. A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. Circulation. Cardiovascular Genetics. 4: 403-12. PMID 21606135 DOI: 10.1161/Circgenetics.110.958728  0.428
2011 Hakonarson H, Grant SF. Planning a genome-wide association study: points to consider. Annals of Medicine. 43: 451-60. PMID 21595511 DOI: 10.3109/07853890.2011.573803  0.445
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. PMID 21552555 DOI: 10.1371/Journal.Pone.0018939  0.318
2011 Kanetsky PA, Mitra N, Vardhanabhuti S, Vaughn DJ, Li M, Ciosek SL, Letrero R, D'Andrea K, Vaddi M, Doody DR, Weaver J, Chen C, Starr JR, HÃ¥konarson H, Rader DJ, et al. A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. Human Molecular Genetics. 20: 3109-17. PMID 21551455 DOI: 10.1093/Hmg/Ddr207  0.379
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, ... ... Hakonarson H, et al. Genome-wide association identifies diverse causes of common variable immunodeficiency. The Journal of Allergy and Clinical Immunology. 127: 1360-7.e6. PMID 21497890 DOI: 10.1016/J.Jaci.2011.02.039  0.446
2011 Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, ... ... Hakonarson H, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics. 43: 436-41. PMID 21460841 DOI: 10.1038/Ng.801  0.3
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 Genetics. 7: e1002026. PMID 21436895 DOI: 10.1371/Journal.Pgen.1002026  0.415
2011 Mehta NN, Li M, William D, Khera AV, DerOhannessian S, Qu L, Ferguson JF, McLaughlin C, Shaikh LH, Shah R, Patel PN, Bradfield JP, He J, Stylianou IM, Hakonarson H, et al. The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels. European Heart Journal. 32: 963-71. PMID 21415067 DOI: 10.1093/Eurheartj/Ehr091  0.336
2011 Dougherty MJ, Wilmoth DM, Tooke LS, Shaikh TH, Gai X, Hakonarson H, Biegel JA. Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. Cancer Genetics. 204: 26-38. PMID 21356189 DOI: 10.1016/J.Cancergencyto.2010.10.007  0.341
2011 Roshan U, Chikkagoudar S, Wei Z, Wang K, Hakonarson H. Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest. Nucleic Acids Research. 39: e62. PMID 21317188 DOI: 10.1093/Nar/Gkr064  0.343
2011 Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R, Amininejad L, Bumpstead S, Baidoo L, ... ... Hakonarson H, et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature Genetics. 43: 246-52. PMID 21297633 DOI: 10.1038/Ng.764  0.426
2011 Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H. Neutral mitochondrial heteroplasmy and the influence of aging. Human Molecular Genetics. 20: 1653-9. PMID 21296868 DOI: 10.1093/Hmg/Ddr043  0.3
2011 Levinson DF, Duan J, Oh S, Wang K, Sanders AR, Shi J, Zhang N, Mowry BJ, Olincy A, Amin F, Cloninger CR, Silverman JM, Buccola NG, Byerley WF, Black DW, ... ... Hakonarson H, et al. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. The American Journal of Psychiatry. 168: 302-16. PMID 21285140 DOI: 10.1176/Appi.Ajp.2010.10060876  0.316
2011 Meyer NJ, Li M, Feng R, Bradfield J, Gallop R, Bellamy S, Fuchs BD, Lanken PN, Albelda SM, Rushefski M, Aplenc R, Abramova H, Atochina-Vasserman EN, Beers MF, Calfee CS, ... ... Hakonarson H, et al. ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio. American Journal of Respiratory and Critical Care Medicine. 183: 1344-53. PMID 21257790 DOI: 10.1164/Rccm.201005-0701Oc  0.313
2011 Glessner JT, Hakonarson H. Genome-wide Association: From Confounded to Confident: The Neuroscientist. 17: 174-184. PMID 21252379 DOI: 10.1177/1073858410381533  0.424
2011 Cappola TP, Matkovich SJ, Wang W, van Booven D, Li M, Wang X, Qu L, Sweitzer NK, Fang JC, Reilly MP, Hakonarson H, Nerbonne JM, Dorn GW. Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation. Proceedings of the National Academy of Sciences of the United States of America. 108: 2456-61. PMID 21248228 DOI: 10.1073/Pnas.1017494108  0.359
2011 Sharma S, Gao X, Londono D, Devroy SE, Mauldin KN, Frankel JT, Brandon JM, Zhang D, Li QZ, Dobbs MB, Gurnett CA, Grant SF, Hakonarson H, Dormans JP, Herring JA, et al. Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. Human Molecular Genetics. 20: 1456-66. PMID 21216876 DOI: 10.1093/Hmg/Ddq571  0.418
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, Md.). 19: 1311-4. PMID 21212767 DOI: 10.1038/Oby.2010.324  0.354
2011 Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, Lettre G, Ongen H, Rajagopalan R, Johnson T, Shen H, Nelson CP, Klopp N, Baumert J, Padmanabhan S, ... ... Hakonarson H, et al. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. American Journal of Human Genetics. 88: 6-18. PMID 21194676 DOI: 10.1016/J.Ajhg.2010.11.007  0.437
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, ... ... Hakonarson H, et al. Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature. 469: 216-20. PMID 21124317 DOI: 10.1038/Nature09609  0.427
2011 Wang K, Zhang H, Bloss CS, Duvvuri V, Kaye W, Schork NJ, Berrettini W, Hakonarson H. A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. Molecular Psychiatry. 16: 949-59. PMID 21079607 DOI: 10.1038/Mp.2010.107  0.421
2011 Ningappa M, Higgs BW, Weeks DE, Ashokkumar C, Duerr RH, Sun Q, Soltys KA, Bond GJ, Abu-Elmagd K, Mazariegos GV, Alissa F, Rivera M, Rudolph J, Squires R, Hakonarson H, et al. NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome. The American Journal of Gastroenterology. 106: 157-65. PMID 20959815 DOI: 10.1038/Ajg.2010.322  0.334
2011 Swarr DT, Hakonarson H. Unraveling the complex genetic underpinnings of asthma and allergic disorders. Current Opinion in Allergy and Clinical Immunology. 10: 434-42. PMID 20724923 DOI: 10.1097/Aci.0B013E32833Da71D  0.363
2011 Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R, Amininejad L, Bumpstead S, Baidoo L, ... ... Hakonarson H, et al. Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 Nature Genetics. 43: 919-919. DOI: 10.1038/Ng0911-919B  0.338
2011 Monos D, Fingerlin T, Mackiewicz K, Papazoglou A, Rossman M, Rosenman K, Bradfield J, Mroz P, Silveira L, Hakonarson H, Maier L. 19-OR New directions in HLA and disease associations: The search beyond HLAs using genome-wide SNP-genotyping and next generation sequencing Human Immunology. 72: S15. DOI: 10.1016/J.Humimm.2011.07.024  0.36
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. PMID 21152026 DOI: 10.1371/Journal.Pone.0015463  0.361
2010 Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, Lees CW, Balschun T, Lee J, Roberts R, Anderson CA, Bis JC, Bumpstead S, Ellinghaus D, Festen EM, ... ... Hakonarson H, et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nature Genetics. 42: 1118-25. PMID 21102463 DOI: 10.1038/Ng.717  0.421
2010 Wang K, Li M, Hakonarson H. Analysing biological pathways in genome-wide association studies. Nature Reviews. Genetics. 11: 843-54. PMID 21085203 DOI: 10.1038/Nrg2884  0.375
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, ... ... Hakonarson H, et al. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. American Journal of Human Genetics. 87: 661-6. PMID 20950786 DOI: 10.1016/J.Ajhg.2010.09.014  0.341
2010 Assimes TL, Hólm H, Kathiresan S, Reilly MP, Thorleifsson G, Voight BF, Erdmann J, Willenborg C, Vaidya D, Xie C, Patterson CC, Morgan TM, Burnett MS, Li M, Hlatky MA, ... ... Hakonarson H, et al. Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. Journal of the American College of Cardiology. 56: 1552-63. PMID 20933357 DOI: 10.1016/J.Jacc.2010.06.022  0.36
2010 Wang LS, Hranilovic D, Wang K, Lindquist IE, Yurcaba L, Petkovic ZB, Gidaya N, Jernej B, Hakonarson H, Bucan M. Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. Bmc Medical Genetics. 11: 134. PMID 20858243 DOI: 10.1186/1471-2350-11-134  0.331
2010 Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D, Peock S, Cook M, ... ... Hakonarson H, et al. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nature Genetics. 42: 885-92. PMID 20852631 DOI: 10.1038/Ng.669  0.303
2010 Neale BM, Medland SE, Ripke S, Asherson P, Franke B, Lesch KP, Faraone SV, Nguyen TT, Schäfer H, Holmans P, Daly M, Steinhausen HC, Freitag C, Reif A, Renner TJ, ... ... Hakonarson H, et al. Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. Journal of the American Academy of Child and Adolescent Psychiatry. 49: 884-97. PMID 20732625 DOI: 10.1016/J.Jaac.2010.06.008  0.378
2010 Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P, ... ... Hakonarson H, et al. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Archives of Neurology. 67: 1473-84. PMID 20697030 DOI: 10.1001/Archneurol.2010.201  0.328
2010 Wang K, Bucan M, Grant SF, Schellenberg G, Hakonarson H. Strategies for genetic studies of complex diseases. Cell. 142: 351-3; author reply . PMID 20691891 DOI: 10.1016/J.Cell.2010.07.025  0.386
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. Molecular Autism. 1: 5. PMID 20678247 DOI: 10.1186/2040-2392-1-5  0.338
2010 Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, ... ... Hakonarson H, et al. A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics. 19: 4072-82. PMID 20663923 DOI: 10.1093/Hmg/Ddq307  0.435
2010 St Pourcain B, Wang K, Glessner JT, Golding J, Steer C, Ring SM, Skuse DH, Grant SF, Hakonarson H, Smith GD, Davey Smith G. Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. The American Journal of Psychiatry. 167: 1364-72. PMID 20634369 DOI: 10.1176/Appi.Ajp.2010.09121789  0.376
2010 Wong SH, Gochhait S, Malhotra D, Pettersson FH, Teo YY, Khor CC, Rautanen A, Chapman SJ, Mills TC, Srivastava A, Rudko A, Freidin MB, Puzyrev VP, Ali S, Aggarwal S, ... ... Hakonarson H, et al. Leprosy and the adaptation of human toll-like receptor 1. Plos Pathogens. 6: e1000979. PMID 20617178 DOI: 10.1371/Journal.Ppat.1000979  0.38
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. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 1127-33. PMID 20607790 DOI: 10.1002/Ajmg.B.31110  0.411
2010 Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Research. 38: e164. PMID 20601685 DOI: 10.1093/Nar/Gkq603  0.405
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, ... ... Hakonarson H, et al. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. Bmc Medical Genetics. 11: 96. PMID 20546612 DOI: 10.1186/1471-2350-11-96  0.39
2010 Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, ... ... Hakonarson H, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466: 368-72. PMID 20531469 DOI: 10.1038/Nature09146  0.374
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. PMID 20520780 DOI: 10.1371/Journal.Pone.0010855  0.366
2010 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, ... ... Hakonarson H, et al. Strong synaptic transmission impact by copy number variations in schizophrenia. Proceedings of the National Academy of Sciences of the United States of America. 107: 10584-9. PMID 20489179 DOI: 10.1073/Pnas.1000274107  0.313
2010 Sleiman PM, Hakonarson H. Recent advances in the genetics and genomics of asthma and related traits. Current Opinion in Pediatrics. 22: 307-12. PMID 20463486 DOI: 10.1097/Mop.0B013E328339553D  0.356
2010 Wang K, Dickson SP, Stolle CA, Krantz ID, Goldstein DB, Hakonarson H. Interpretation of association signals and identification of causal variants from genome-wide association studies. American Journal of Human Genetics. 86: 730-42. PMID 20434130 DOI: 10.1016/J.Ajhg.2010.04.003  0.393
2010 Imielinski M, Hakonarson H. Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond. Pharmacogenomics. 11: 663-5. PMID 20415557 DOI: 10.2217/Pgs.10.56  0.355
2010 Qu HQ, Bradfield JP, Li Q, Kim C, Frackelton E, Grant SF, Hakonarson H, Polychronakos C. In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium. Human Molecular Genetics. 19: 2534-8. PMID 20378605 DOI: 10.1093/Hmg/Ddq133  0.407
2010 Leyva-Vega M, Gerfen J, Thiel BD, Jurkiewicz D, Rand EB, Pawlowska J, Kaminska D, Russo P, Gai X, Krantz ID, Kamath BM, Hakonarson H, Haber BA, Spinner NB. Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. American Journal of Medical Genetics. Part A. 152: 886-95. PMID 20358598 DOI: 10.1002/Ajmg.A.33332  0.408
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, ... ... Hakonarson H, et al. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. Nature Genetics. 42: 289-91. PMID 20208534 DOI: 10.1038/Ng.547  0.37
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, ... ... Hakonarson H, et al. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Human Molecular Genetics. 19: 2059-67. PMID 20176734 DOI: 10.1093/Hmg/Ddq078  0.371
2010 Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, ... ... Hakonarson H, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nature Genetics. 42: 234-9. PMID 20154673 DOI: 10.1038/Ng.536  0.427
2010 Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. Rare variants create synthetic genome-wide associations. Plos Biology. 8: e1000294. PMID 20126254 DOI: 10.1371/Journal.Pbio.1000294  0.425
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, et al. Common variants in HSPB7 and FRMD4B associated with advanced heart failure. Circulation. Cardiovascular Genetics. 3: 147-54. PMID 20124441 DOI: 10.1161/Circgenetics.109.898395  0.349
2010 Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Human Molecular Genetics. 19: 1263-75. PMID 20053666 DOI: 10.1093/Hmg/Ddq003  0.36
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, ... ... Hakonarson H, et al. Variants of DENND1B associated with asthma in children. The New England Journal of Medicine. 362: 36-44. PMID 20032318 DOI: 10.1056/Nejmoa0901867  0.348
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. Inflammatory Bowel Diseases. 16: 1357-66. PMID 20014019 DOI: 10.1002/Ibd.21174  0.372
2010 Qu HQ, Bradfield JP, Grant SF, Hakonarson H, Polychronakos C. Remapping the type I diabetes association of the CTLA4 locus. Genes and Immunity. S27-32. PMID 19956097 DOI: 10.1038/Gene.2009.88  0.378
2010 Fairfax BP, Vannberg FO, Radhakrishnan J, Hakonarson H, Keating BJ, Hill AV, Knight JC. An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6. Human Molecular Genetics. 19: 720-30. PMID 19942621 DOI: 10.1093/Hmg/Ddp530  0.331
2010 Mathias RA, Grant AV, Rafaels N, Hand T, Gao L, Vergara C, Tsai YJ, Yang M, Campbell M, Foster C, Gao P, Togias A, Hansel NN, Diette G, Adkinson NF, ... ... Hakonarson H, et al. A genome-wide association study on African-ancestry populations for asthma. The Journal of Allergy and Clinical Immunology. 125: 336-346.e4. PMID 19910028 DOI: 10.1016/J.Jaci.2009.08.031  0.39
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, ... ... Hakonarson H, et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Molecular Psychiatry. 15: 637-46. PMID 19546859 DOI: 10.1038/Mp.2009.57  0.333
2010 Wang K, Swierczek S, Hickman K, Hakonarson H, Prchal JT. Convergent Mechanisms of Somatic Mutations In Polycythemia Vera Blood. 116: 1979-1979. DOI: 10.1182/Blood.V116.21.1979.1979  0.397
2010 Attiyeh EF, Hogarty MD, Mossé YP, Diskin SJ, Hakonarson H, Asgharzadeh S, Sposto R, London WB, Gastier-Foster JM, Gerhard DS, Smith MA, Zhang J, Khan J, Seeger RC, Maris JM. Abstract 5258: Genomic characterization and targeted resequencing of high-risk neuroblastoma (the neuroblastoma TARGET) Cancer Research. 70: 5258-5258. DOI: 10.1158/1538-7445.Am10-5258  0.373
2010 Diskin SJ, Jagganathan J, Diamond M, Hou C, Wang K, Zhang H, Li H, Mosse YP, Hakonarson H, Maris JM. Abstract 5253: Rare copy number variations (CNVs) influence neuroblastoma susceptibility Cancer Research. 70: 5253-5253. DOI: 10.1158/1538-7445.Am10-5253  0.428
2010 Nguyen LB, Diskin S, Hakonarson H, Maris JM, Li H. Abstract 4743: Genome-wide gene-centric discovery of disease variants in neuroblastoma Cancer Research. 70: 4743-4743. DOI: 10.1158/1538-7445.Am10-4743  0.373
2010 Diskin SJ, Bosse K, Mayes PA, LaQuaglia M, Attiyeh EF, Laudenslager M, Mosse YP, Diamond M, Belcastro L, Toporovskaya Y, Norris G, Hou C, Wang K, Zhang H, Kim C, ... ... Hakonarson H, et al. Abstract 3866: Identification ofNME7as a predisposition locus and candidate oncogene in neuroblastoma Cancer Research. 70: 3866-3866. DOI: 10.1158/1538-7445.Am10-3866  0.337
2010 Parkes M, McGovern DP, Franke A, Vermeire S, Louis E, Ahmad T, Mathew CG, Annese V, Rioux JD, Rotter JI, Dubinsky M, Taylor KD, Kugathasan S, Brant SR, Duerr RH, ... ... Hakonarson H, et al. 847v 18 New Crohn's Disease Susceptibility Genes and Loci Identified by the International IBD Genetics Consortium Gastroenterology. 138: S-115. DOI: 10.1016/S0016-5085(10)60528-8  0.342
2010 Schellenberg GD, Höglinger G, Sleiman P, Rademakers R, Kei L, Silva Rd, Wang L, Yu C, Heutink P, Swieten Jv, Farrer M, Hardy J, Lees A, Devlin B, Hakonarson H, et al. A genome-wide association study of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) Alzheimers & Dementia. 6. DOI: 10.1016/J.Jalz.2010.05.254  0.352
2009 Sleiman PM, Hakonarson H. Pharmacogenetics and functional genomics in asthma. Personalized Medicine. 6: 409-416. PMID 29783539 DOI: 10.2217/Pme.09.30  0.366
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, et al. Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry. The Application of Clinical Genetics. 2: 1-5. PMID 23776345 DOI: 10.2147/Tacg.S4089  0.381
2009 Grant SF, Hakonarson H, Schwartz S. Can the genetics of type 1 and type 2 diabetes shed light on the genetics of latent autoimmune diabetes in adults? Endocrine Reviews. 31: 183-93. PMID 20007922 DOI: 10.1210/Er.2009-0029  0.35
2009 Qu HQ, Bradfield JP, Bélisle A, Grant SF, Hakonarson H, Polychronakos C. The type I diabetes association of the IL2RA locus. Genes and Immunity. 10: S42-8. PMID 19956099 DOI: 10.1038/Gene.2009.90  0.358
2009 Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, Kugathasan S, Bradfield JP, Walters TD, Sleiman P, Kim CE, Muise A, Wang K, Glessner JT, Saeed S, ... ... Hakonarson H, et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nature Genetics. 41: 1335-40. PMID 19915574 DOI: 10.1038/Ng.489  0.376
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 Genetics. 5: e1000678. PMID 19816555 DOI: 10.1371/Journal.Pgen.1000678  0.37
2009 Qu HQ, Verlaan DJ, Ge B, Lu Y, Lam KCL, Grabs R, Harmsen E, Hudson TJ, Hakonarson H, Pastinen T, Polychronakos C. A cis-acting regulatory variant in the IL2RA locus Journal of Immunology. 183: 5158-5162. PMID 19794070 DOI: 10.4049/Jimmunol.0901337  0.381
2009 Scherr R, Essers J, Hakonarson H, Kugathasan S. Genetic determinants of pediatric inflammatory bowel disease: is age of onset genetically determined? Digestive Diseases (Basel, Switzerland). 27: 236-9. PMID 19786746 DOI: 10.1159/000228555  0.383
2009 Glessner JT, Hakonarson H. Common variants in polygenic schizophrenia. Genome Biology. 10: 236. PMID 19785721 DOI: 10.1186/Gb-2009-10-9-236  0.376
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, et al. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. The Journal of Pediatrics. 155: 909-13. PMID 19656524 DOI: 10.1016/J.Jpeds.2009.06.020  0.427
2009 Wei Z, Sun W, Wang K, Hakonarson H. Multiple testing in genome-wide association studies via hidden Markov models. Bioinformatics (Oxford, England). 25: 2802-8. PMID 19654115 DOI: 10.1093/Bioinformatics/Btp476  0.367
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, ... ... Hakonarson H, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Research. 19: 1682-90. PMID 19592680 DOI: 10.1101/Gr.083501.108  0.377
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, ... ... Hakonarson H, et al. Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes. 58: 2414-8. PMID 19592620 DOI: 10.2337/Db09-0506  0.313
2009 Hakonarson H, Grant SF. Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders. Seminars in Immunology. 21: 355-62. PMID 19574059 DOI: 10.1016/J.Smim.2009.06.001  0.361
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, ... ... Hakonarson H, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. Plos Genetics. 5: e1000536. PMID 19557195 DOI: 10.1371/Journal.Pgen.1000536  0.415
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, ... ... Hakonarson H, et al. Copy number variation at 1q21.1 associated with neuroblastoma. Nature. 459: 987-91. PMID 19536264 DOI: 10.1038/Nature08035  0.411
2009 Kanetsky PA, Mitra N, Vardhanabhuti S, Li M, Vaughn DJ, Letrero R, Ciosek SL, Doody DR, Smith LM, Weaver J, Albano A, Chen C, Starr JR, Rader DJ, Godwin AK, ... ... Hakonarson H, et al. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nature Genetics. 41: 811-5. PMID 19483682 DOI: 10.1038/Ng.393  0.401
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, ... ... Hakonarson H, et al. The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI. Obesity (Silver Spring, Md.). 17: 2254-7. PMID 19478790 DOI: 10.1038/Oby.2009.159  0.39
2009 Qu HQ, Grant SF, Bradfield JP, Kim C, Frackelton E, Hakonarson H, Polychronakos C. Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies. Journal of Medical Genetics. 46: 553-4. PMID 19465406 DOI: 10.1136/Jmg.2009.067140  0.351
2009 Himes BE, Hunninghake GM, Baurley JW, Rafaels NM, Sleiman P, Strachan DP, Wilk JB, Willis-Owen SA, Klanderman B, Lasky-Su J, Lazarus R, Murphy AJ, Soto-Quiros ME, Avila L, Beaty T, ... ... Hakonarson H, et al. Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. American Journal of Human Genetics. 84: 581-93. PMID 19426955 DOI: 10.1016/J.Ajhg.2009.04.006  0.358
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, ... ... Hakonarson H, et al. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nature Genetics. 41: 718-23. PMID 19412175 DOI: 10.1038/Ng.374  0.38
2009 Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, ... ... Hakonarson H, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 459: 569-73. PMID 19404257 DOI: 10.1038/Nature07953  0.416
2009 Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, ... ... Hakonarson H, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 459: 528-33. PMID 19404256 DOI: 10.1038/Nature07999  0.409
2009 Elia J, Capasso M, Zaheer Z, Lantieri F, Ambrosini P, Berrettini W, Devoto M, Hakonarson H. Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A. Psychiatric Genetics. 19: 134-41. PMID 19352218 DOI: 10.1097/Ypg.0B013E32832A5043  0.386
2009 Grant SF, Hakonarson H. Genome-wide association studies in type 1 diabetes. Current Diabetes Reports. 9: 157-63. PMID 19323961 DOI: 10.1007/S11892-009-0026-5  0.426
2009 Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA. Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 15: 1923-30. PMID 19276269 DOI: 10.1158/1078-0432.Ccr-08-2091  0.345
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, ... ... Hakonarson H, et al. Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry. Obesity (Silver Spring, Md.). 17: 1461-5. PMID 19265794 DOI: 10.1038/Oby.2009.53  0.369
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, ... ... Hakonarson H, et al. Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. American Journal of Human Genetics. 84: 399-405. PMID 19249008 DOI: 10.1016/J.Ajhg.2009.01.026  0.406
2009 Yang S, Wang K, Gregory B, Berrettini W, Wang LS, Hakonarson H, Bucan M. Genomic landscape of a three-generation pedigree segregating affective disorder. Plos One. 4: e4474. PMID 19214233 DOI: 10.1371/Journal.Pone.0004474  0.412
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 Research. 19: 276-83. PMID 19141597 DOI: 10.1101/Gr.075671.107  0.33
2009 Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH. A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. European Journal of Medical Genetics. 52: 265-8. PMID 19100872 DOI: 10.1016/J.Ejmg.2008.11.005  0.337
2009 Li M, Wang K, Grant SF, Hakonarson H, Li C. ATOM: a powerful gene-based association test by combining optimally weighted markers. Bioinformatics (Oxford, England). 25: 497-503. PMID 19074959 DOI: 10.1093/Bioinformatics/Btn641  0.385
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. Human Mutation. 30: 371-8. PMID 19058200 DOI: 10.1002/Humu.20863  0.384
2009 Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA. Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. Brain Pathology (Zurich, Switzerland). 19: 449-58. PMID 19016743 DOI: 10.1111/J.1750-3639.2008.00225.X  0.336
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, ... ... Hakonarson H, et al. Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes. 58: 290-5. PMID 18840781 DOI: 10.2337/Db08-1022  0.368
2009 Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA. Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene (Brain Pathol (2008) 19 (449-458)) Brain Pathology. 19: 550. DOI: 10.1111/J.1750-3639.2009.00298.X  0.316
2008 Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, ... ... Hakonarson H, et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. Plos One. 3: e3583. PMID 18974833 DOI: 10.1371/Journal.Pone.0003583  0.428
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 Research. 36: e138. PMID 18832372 DOI: 10.1093/Nar/Gkn641  0.374
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 Research. 36: e126. PMID 18784189 DOI: 10.1093/Nar/Gkn556  0.316
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, ... ... Hakonarson H, et al. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry. The Journal of Allergy and Clinical Immunology. 122: 1225-7. PMID 18760456 DOI: 10.1016/J.Jaci.2008.06.041  0.304
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, ... ... Hakonarson H, et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nature Genetics. 40: 1211-5. PMID 18758464 DOI: 10.1038/Ng.203  0.4
2008 Mossé YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, et al. Identification of ALK as a major familial neuroblastoma predisposition gene. Nature. 455: 930-5. PMID 18724359 DOI: 10.1038/Nature07261  0.303
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, et al. Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection. Gastroenterology. 135: 830-9, 839.e1-10. PMID 18639552 DOI: 10.1053/J.Gastro.2008.05.080  0.377
2008 Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Molecular Genetics and Metabolism. 94: 498-502. PMID 18524659 DOI: 10.1016/J.Ymgme.2008.04.011  0.351
2008 Grant SF, Hakonarson H. Microarray technology and applications in the arena of genome-wide association. Clinical Chemistry. 54: 1116-24. PMID 18499899 DOI: 10.1373/Clinchem.2008.105395  0.38
2008 Grant SF, Baldassano RN, Hakonarson H. Classification of genetic profiles of Crohn's disease: a focus on the ATG16L1 gene. Expert Review of Molecular Diagnostics. 8: 199-207. PMID 18366306 DOI: 10.1586/14737159.8.2.199  0.416
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, ... ... Hakonarson H, et al. Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP. Plos One. 3: e1746. PMID 18335027 DOI: 10.1371/Journal.Pone.0001746  0.371
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, et al. A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes. 57: 1143-6. PMID 18198356 DOI: 10.2337/Db07-1305  0.34
2008 Mosse YP, Longo L, Laudenslager M, Perri P, Tonini G, McConville CM, Speleman F, Hakonarson H, Rappaport E, Devoto M, Maris JM. Use of a genome-wide linkage screen to identify a hereditary neuroblastoma predisposition locus at chromosome 2p24–23 Journal of Clinical Oncology. 26: 10010-10010. DOI: 10.1200/Jco.2008.26.15_Suppl.10010  0.391
2007 Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SFA, 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 Research. 17: 1665-1674. PMID 17921354 DOI: 10.1101/Gr.6861907  0.357
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, et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature. 448: 591-4. PMID 17632545 DOI: 10.1038/Nature06010  0.443
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, ... ... Hakonarson H, et al. Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease. Gut. 56: 1171-3. PMID 17625155 DOI: 10.1136/Gut.2007.122747  0.427
2007 Grant SF, Hakonarson H. Recent development in pharmacogenomics: from candidate genes to genome-wide association studies. Expert Review of Molecular Diagnostics. 7: 371-93. PMID 17620046 DOI: 10.1586/14737159.7.4.371  0.427
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, ... ... Hakonarson H, et al. Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease. Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association. 5: 972-6. PMID 17618837 DOI: 10.1016/J.Cgh.2007.04.024  0.413
2006 Helgadottir A, Manolescu A, Helgason A, Thorleifsson G, Thorsteinsdottir U, Gudbjartsson DF, Gretarsdottir S, Magnusson KP, Gudmundsson G, Hicks A, Jonsson T, Grant SF, Sainz J, O'Brien SJ, Sveinbjornsdottir S, ... ... Hakonarson H, et al. A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nature Genetics. 38: 68-74. PMID 16282974 DOI: 10.1038/Ng1692  0.303
2005 Thakkinstian A, McEvoy M, Minelli C, Gibson P, Hancox B, Duffy D, Thompson J, Hall I, Kaufman J, Leung TF, Helms PJ, Hakonarson H, Halpi E, Navon R, Attia J. Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review. American Journal of Epidemiology. 162: 201-11. PMID 15987731 DOI: 10.1093/Aje/Kwi184  0.334
2005 Blakey J, Halapi E, Bjornsdottir US, Wheatley A, Kristinsson S, Upmanyu R, Stefansson K, Hakonarson H, Hall IP. Contribution of ADAM33 polymorphisms to the population risk of asthma. Thorax. 60: 274-6. PMID 15790980 DOI: 10.1136/Thx.2004.027227  0.315
2005 Helgadottir A, Gretarsdottir S, St Clair D, Manolescu A, Cheung J, Thorleifsson G, Pasdar A, Grant SF, Whalley LJ, Hakonarson H, Thorsteinsdottir U, Kong A, Gulcher J, Stefansson K, MacLeod MJ. Association between the gene encoding 5-lipoxygenase-activating protein and stroke replicated in a Scottish population. American Journal of Human Genetics. 76: 505-9. PMID 15640973 DOI: 10.1086/428066  0.333
2004 Halapi E, Stefansson K, Hakonarson H. Population genomics of drug response. American Journal of Pharmacogenomics : Genomics-Related Research in Drug Development and Clinical Practice. 4: 73-82. PMID 15059030 DOI: 10.2165/00129785-200404020-00002  0.341
2004 Halapi E, Hakonarson H. Recent development in genomic and proteomic research for asthma. Current Opinion in Pulmonary Medicine. 10: 22-30. PMID 14749602 DOI: 10.1097/00063198-200401000-00005  0.315
2003 Hakonarson H, Gulcher JR, Stefansson K. deCODE genetics, Inc. Pharmacogenomics. 4: 209-15. PMID 12605555 DOI: 10.1517/Phgs.4.2.209.22627  0.344
2003 Hakonarson H, Halapi E. Genetic analyses in asthma: current concepts and future directions. American Journal of Pharmacogenomics : Genomics-Related Research in Drug Development and Clinical Practice. 2: 155-66. PMID 12383022 DOI: 10.2165/00129785-200202030-00001  0.337
2003 Halapi E, Hakonarson H. Advances in the development of genetic markers for the diagnosis of disease and drug response. Expert Review of Molecular Diagnostics. 2: 411-21. PMID 12271813 DOI: 10.1586/14737159.2.5.411  0.344
2002 Hakonarson H, Bjornsdottir US, Halapi E, Palsson S, Adalsteinsdottir E, Gislason D, Finnbogason G, Gislason T, Kristjansson K, Arnason T, Birkisson I, Frigge ML, Kong A, Gulcher JR, Stefansson K. A major susceptibility gene for asthma maps to chromosome 14q24. American Journal of Human Genetics. 71: 483-91. PMID 12119603 DOI: 10.1086/342205  0.314
2002 Hakonarson H, Bjornsdottir US, Ostermann E, Arnason T, Adalsteinsdottir AE, Halapi E, Shkolny D, Kristjansson K, Gudnadottir SA, Frigge ML, Gislason D, Gislason T, Kong A, Gulcher J, Stefansson K. Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland. American Journal of Respiratory and Critical Care Medicine. 164: 2036-44. PMID 11739132 DOI: 10.1164/Ajrccm.164.11.2101086  0.343
2002 Halapi E, Hakonarson H. Genetics of obstructive airways disease Immunology and Allergy Clinics of North America. 22: 243-260. DOI: 10.1016/S0889-8561(01)00010-8  0.343
2001 Hakonarson H, Wjst M. Current concepts on the genetics of asthma. Current Opinion in Pediatrics. 13: 267-77. PMID 11389363 DOI: 10.1097/00008480-200106000-00010  0.37
Show low-probability matches.