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Page 1
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, de Oliveira EM, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santon F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia R, Terao C, Riggan M, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CL, Beckmann MW, Berrington A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Hart RJ, Hickey M, Hooning M… See abstract for full author list ➔ Kentistou KA, et al. Among authors: hakonarson h. medRxiv [Preprint]. 2023 Jun 20:2023.06.14.23291322. doi: 10.1101/2023.06.14.23291322. medRxiv. 2023. PMID: 37503126 Free PMC article. Preprint.
Common variants at 12q15 and 12q24 are associated with infant head circumference.
Taal HR, Pourcain BS, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, Ikram MA, Beilin LJ, Bønnelykke K, Buxton JL, Charoen P, Chawes BLK, Eriksson J, Evans DM, Hofman A, Kemp JP, Kim CE, Klopp N, Lahti J, Lye SJ, McMahon G, Mentch FD, Müller M, O'Reilly PF, Prokopenko I, Rivadeneira F, Steegers EAP, Sunyer J, Tiesler C, Yaghootkar H; Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium; Breteler MMB, Debette S, Fornage M, Gudnason V, Launer LJ, van der Lugt A, Mosley TH, Seshadri S, Smith AV, Vernooij MW; Early Genetics & Lifecourse Epidemiology (EAGLE) consortium; Blakemore AI, Chiavacci RM, Feenstra B, Fernandez-Benet J, Grant SFA, Hartikainen AL, van der Heijden AJ, Iñiguez C, Lathrop M, McArdle WL, Mølgaard A, Newnham JP, Palmer LJ, Palotie A, Pouta A, Ring SM, Sovio U, Standl M, Uitterlinden AG, Wichmann HE, Vissing NH, DeCarli C, van Duijn CM, McCarthy MI, Koppelman GH, Estivill X, Hattersley AT, Melbye M, Bisgaard H, Pennell CE, Widen E, Hakonarson H, Smith GD, Heinrich J, Jarvelin MR; Early Growth Genetics (EGG) Consor… See abstract for full author list ➔ Taal HR, et al. Among authors: hakonarson h. Nat Genet. 2012 Apr 15;44(5):532-538. doi: 10.1038/ng.2238. Nat Genet. 2012. PMID: 22504419 Free PMC article.
Common Genetic Variation and Age of Onset of Anorexia Nervosa.
Watson HJ, Thornton LM, Yilmaz Z, Baker JH, Coleman JRI, Adan RAH, Alfredsson L, Andreassen OA, Ask H, Berrettini WH, Boehnke M, Boehm I, Boni C, Buehren K, Bulant J, Burghardt R, Chang X, Cichon S, Cone RD, Courtet P, Crow S, Crowley JJ, Danner UN, de Zwaan M, Dedoussis G, DeSocio JE, Dick DM, Dikeos D, Dina C, Djurovic S, Dmitrzak-Weglarz M, Docampo-Martinez E, Duriez P, Egberts K, Ehrlich S, Eriksson JG, Escaramís G, Esko T, Estivill X, Farmer A, Fernández-Aranda F, Fichter MM, Föcker M, Foretova L, Forstner AJ, Frei O, Gallinger S, Giegling I, Giuranna J, Gonidakis F, Gorwood P, Gratacòs M, Guillaume S, Guo Y, Hakonarson H, Hauser J, Havdahl A, Hebebrand J, Helder SG, Herms S, Herpertz-Dahlmann B, Herzog W, Hinney A, Hübel C, Hudson JI, Imgart H, Jamain S, Janout V, Jiménez-Murcia S, Jones IR, Julià A, Kalsi G, Kaminská D, Kaprio J, Karhunen L, Kas MJH, Keel PK, Kennedy JL, Keski-Rahkonen A, Kiezebrink K, Klareskog L, Klump KL, Knudsen GPS, La Via MC, Le Hellard S, Leboyer M, Li D, Lilenfeld L, Lin B, Lissowska J, Luykx J, Magistretti P, Maj M, Marsal S, Marshall CR, Mattingsdal M, Meulenbelt I, Micali N, Mitchell KS, Monteleone AM, Monteleone P, Myers R, Navratilova M,… See abstract for full author list ➔ Watson HJ, et al. Among authors: hakonarson h. Biol Psychiatry Glob Open Sci. 2021 Sep 20;2(4):368-378. doi: 10.1016/j.bpsgos.2021.09.001. eCollection 2022 Oct. Biol Psychiatry Glob Open Sci. 2021. PMID: 36324647 Free PMC article.
Germline pathogenic variants in 786 neuroblastoma patients.
Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani N, Dymek M, Desai H, Hausler R; Penn Medicine BioBank; Regeneron Genetics Center; Cancer Genomics Research Laboratory; Auvil JG, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ. Kim J, et al. Among authors: hakonarson h. medRxiv [Preprint]. 2023 Jan 25:2023.01.23.23284864. doi: 10.1101/2023.01.23.23284864. medRxiv. 2023. PMID: 36747619 Free PMC article. Updated. Preprint.
Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
Liu Z, Liu R, Gao H, Jung S, Gao X, Sun R, Liu X, Kim Y, Lee HS, Kawai Y, Nagasaki M, Umeno J, Tokunaga K, Kinouchi Y, Masamune A, Shi W, Shen C, Guo Z, Yuan K; FinnGen; International Inflammatory Bowel Disease Genetics Consortium; Chinese Inflammatory Bowel Disease Genetics Consortium; Zhu S, Li D, Liu J, Ge T, Cho J, Daly MJ, McGovern DPB, Ye BD, Song K, Kakuta Y, Li M, Huang H. Liu Z, et al. Nat Genet. 2023 May;55(5):796-806. doi: 10.1038/s41588-023-01384-0. Epub 2023 May 8. Nat Genet. 2023. PMID: 37156999 Free PMC article.
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
Docherty AR, Mullins N, Ashley-Koch AE, Qin X, Coleman JRI, Shabalin A, Kang J, Murnyak B, Wendt F, Adams M, Campos AI, DiBlasi E, Fullerton JM, Kranzler HR, Bakian AV, Monson ET, Rentería ME, Walss-Bass C, Andreassen OA, Behera C, Bulik CM, Edenberg HJ, Kessler RC, Mann JJ, Nurnberger JI Jr, Pistis G, Streit F, Ursano RJ, Polimanti R, Dennis M, Garrett M, Hair L, Harvey P, Hauser ER, Hauser MA, Huffman J, Jacobson D, Madduri R, McMahon B, Oslin DW, Trafton J, Awasthi S, Berrettini WH, Bohus M, Chang X, Chen HC, Chen WJ, Christensen ED, Crow S, Duriez P, Edwards AC, Fernández-Aranda F, Galfalvy H, Gandal M, Gorwood P, Guo Y, Hafferty JD, Hakonarson H, Halmi KA, Hishimoto A, Jain S, Jamain S, Jiménez-Murcia S, Johnson C, Kaplan AS, Kaye WH, Keel PK, Kennedy JL, Kim M, Klump KL, Levey DF, Li D, Liao SC, Lieb K, Lilenfeld L, Marshall CR, Mitchell JE, Okazaki S, Otsuka I, Pinto D, Powers A, Ramoz N, Ripke S, Roepke S, Rozanov V, Scherer SW, Schmahl C, Sokolowski M, Starnawska A, Strober M, Su MH, Thornton LM, Treasure J, Ware EB, Watson HJ, Witt SH, Woodside DB, Yilmaz Z, Zillich L, Adolfsson R, Agartz I, Alda M, Alfredsson L, Appadurai V, Artigas MS, Van der Auwera S, Azevedo … See abstract for full author list ➔ Docherty AR, et al. Among authors: hakonarson h. Am J Psychiatry. 2023 Oct 1;180(10):723-738. doi: 10.1176/appi.ajp.21121266. Am J Psychiatry. 2023. PMID: 37777856 Free PMC article.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia … See abstract for full author list ➔ Li D, et al. Among authors: hakonarson h. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Sex-specific genetic predictors of Alzheimer's disease biomarkers.
Deming Y, Dumitrescu L, Barnes LL, Thambisetty M, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL, Kukull W, Huentelman M, Crane PK, Resnick SM, Keene CD, Montine TJ, Schellenberg GD, Haines JL, Zetterberg H, Blennow K, Larson EB, Johnson SC, Albert M, Moghekar A, Del Aguila JL, Fernandez MV, Budde J, Hassenstab J, Fagan AM, Riemenschneider M, Petersen RC, Minthon L, Chao MJ, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Peskind ER, Li G, Davis LK, Sealock JM, Cox NJ; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetics Consortium (ADGC); Goate AM, Bennett DA, Schneider JA, Jefferson AL, Cruchaga C, Hohman TJ. Deming Y, et al. Acta Neuropathol. 2018 Dec;136(6):857-872. doi: 10.1007/s00401-018-1881-4. Epub 2018 Jul 2. Acta Neuropathol. 2018. PMID: 29967939 Free PMC article.
1,028 results