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Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.
Massey S, Guo Y, Riley LG, Van Bergen NJ, Sandaradura SA, McCusker E, Tchan M, Thauvin-Robinet C, Thomas Q, Moreau T, Davis M, Smits D, Mancini GMS, Hakonarson H, Cooper S, Christodoulou J. Massey S, et al. Among authors: hakonarson h. Neurol Genet. 2023 Jan 23;9(1):e200051. doi: 10.1212/NXG.0000000000200051. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 36698452 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.
Identification of copy number variants contributing to hallux valgus.
Zhou W, Jia J, Qu HQ, Ma F, Li J, Qi X, Meng X, Ding Z, Zheng G, Hakonarson H, Zeng X, Li J, Xia Q. Zhou W, et al. Among authors: hakonarson h. Front Genet. 2023 Mar 23;14:1116284. doi: 10.3389/fgene.2023.1116284. eCollection 2023. Front Genet. 2023. PMID: 37035746 Free PMC article.
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways.
Zhang S, Yang J, Ji D, Meng X, Zhu C, Zheng G, Glessner J, Qu HQ, Cui Y, Liu Y, Wang W, Li X, Zhang H, Xiu Z, Sun Y, Sun L, Li J, Hakonarson H, Li J, Xia Q. Zhang S, et al. Among authors: hakonarson h. J Med Genet. 2024 Mar 5:jmg-2023-109385. doi: 10.1136/jmg-2023-109385. Online ahead of print. J Med Genet. 2024. PMID: 38443156
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE. Nriagu BN, et al. Among authors: hakonarson h. Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13. Am J Med Genet A. 2024. PMID: 37705207 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.
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.
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.
Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Carey CE, Baya N, Bybjerg-Grauholm J; iPSYCH Consortium; ASD Working Group of the Psychiatric Genomics Consortium; ADHD Working Group of the Psychiatric Genomics Consortium; Berretta S, Macosko EZ, Sebat J, O'Connor LJ, Hougaard DM, Børglum AD, Talkowski ME, McCarroll SA, Robinson EB. Weiner DJ, et al. Nat Genet. 2022 Nov;54(11):1630-1639. doi: 10.1038/s41588-022-01203-y. Epub 2022 Oct 24. Nat Genet. 2022. PMID: 36280734 Free PMC article.
1,030 results