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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. Among authors: talkowski me. 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.
Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars.
Macakova M, Bohuslavova B, Vochozkova P, Pavlok A, Sedlackova M, Vidinska D, Vochyanova K, Liskova I, Valekova I, Baxa M, Ellederova Z, Klima J, Juhas S, Juhasova J, Klouckova J, Haluzik M, Klempir J, Hansikova H, Spacilova J, Collins R, Blumenthal I, Talkowski M, Gusella JF, Howland DS, DiFiglia M, Motlik J. Macakova M, et al. Neurodegener Dis. 2016;16(3-4):245-59. doi: 10.1159/000443665. Epub 2016 Mar 10. Neurodegener Dis. 2016. PMID: 26959244
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.
Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME. Ernst C, et al. Among authors: talkowski me. Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 10.1001/archgenpsychiatry.2012.660. Arch Gen Psychiatry. 2012. PMID: 23044507 Free PMC article.
Fine-mapping reveals novel alternative splicing of the dopamine transporter.
Talkowski ME, McCann KL, Chen M, McClain L, Bamne M, Wood J, Chowdari KV, Watson A, Prasad KM, Kirov G, Georgieva L, Toncheva D, Mansour H, Lewis DA, Owen M, O'Donovan M, Papasaikas P, Sullivan P, Ruderfer D, Yao JK, Leonard S, Thomas P, Miyajima F, Quinn J, Lopez AJ, Nimgaonkar VL. Talkowski ME, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Dec 5;153B(8):1434-47. doi: 10.1002/ajmg.b.31125. Epub 2010 Oct 18. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20957647 Free PMC article.
184 results