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Page 1
Paternal-age-related de novo mutations and risk for five disorders.
Taylor JL, Debost JPG, Morton SU, Wigdor EM, Heyne HO, Lal D, Howrigan DP, Bloemendal A, Larsen JT, Kosmicki JA, Weiner DJ, Homsy J, Seidman JG, Seidman CE, Agerbo E, McGrath JJ, Mortensen PB, Petersen L, Daly MJ, Robinson EB. Taylor JL, et al. Among authors: howrigan dp. Nat Commun. 2019 Jul 10;10(1):3043. doi: 10.1038/s41467-019-11039-6. Nat Commun. 2019. PMID: 31292440 Free PMC article.
Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'.
Robinson EB, Howrigan D, Yang J, Ripke S, Anttila V, Duncan LE, Jostins L, Barrett JC, Medland SE, MacArthur DG, Breen G, O'Donovan MC, Wray NR, Devlin B, Daly MJ, Visscher PM, Sullivan PF, Neale BM. Robinson EB, et al. Mol Psychiatry. 2014 Aug;19(8):859-61. doi: 10.1038/mp.2013.125. Epub 2013 Oct 22. Mol Psychiatry. 2014. PMID: 24145379 Free PMC article. No abstract available.
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.
Robinson EB, St Pourcain B, Anttila V, Kosmicki JA, Bulik-Sullivan B, Grove J, Maller J, Samocha KE, Sanders SJ, Ripke S, Martin J, Hollegaard MV, Werge T, Hougaard DM; iPSYCH-SSI-Broad Autism Group; Neale BM, Evans DM, Skuse D, Mortensen PB, Børglum AD, Ronald A, Smith GD, Daly MJ. Robinson EB, et al. Nat Genet. 2016 May;48(5):552-5. doi: 10.1038/ng.3529. Epub 2016 Mar 21. Nat Genet. 2016. PMID: 26998691 Free PMC article.
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Among authors: howrigan d. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM. Ganna A, et al. Among authors: howrigan dp. Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 3. Nat Neurosci. 2016. PMID: 27694993 Free PMC article.
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA Jr, Bergen SE, Bertalan M, Bevilacqua E, Bigdeli TB, Black DW, Bruggeman R, Buccola NG, Buckner RL, Bulik-Sullivan B, Byerley W, Cahn W, Cai G, Cairns MJ, Campion D, Cantor RM, Carr VJ, Carrera N, Catts SV, Chambert KD, Cheng W, Cloninger CR, Cohen D, Cormican P, Craddock N, Crespo-Facorro B, Crowley JJ, Curtis D, Davidson M, Davis KL, Degenhardt F, Del Favero J, DeLisi LE, Dikeos D, Dinan T, Djurovic S, Donohoe G, Drapeau E, Duan J, Dudbridge F, Eichhammer P, Eriksson J, Escott-Price V, Essioux L, Fanous AH, Farh KH, Farrell MS, Frank J, Franke L, Freedman R, Freimer NB, Friedman JI, Forstner AJ, Fromer M, Genovese G, Georgieva L, Gershon ES, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, Gratten J, de Haan L, Hamshere ML, Hansen M, Hansen T, Haroutunian V, Hartmann AM, Henskens FA, Herms S, Hirschhorn JN, Hoffmann P, Hofman A, Huang H, Ikeda M, Joa I, Kähler AK, Kahn RS, Kalaydjieva L, Karjalainen J, Ka… See abstract for full author list ➔ Marshall CR, et al. Among authors: howrigan dp. Nat Genet. 2017 Jan;49(1):27-35. doi: 10.1038/ng.3725. Epub 2016 Nov 21. Nat Genet. 2017. PMID: 27869829 Free PMC article.
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, Daly MJ. Kosmicki JA, et al. Among authors: howrigan dp. Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191890 Free PMC article.
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J; iPSYCH-Broad Autism Group; Psychiatric Genomics Consortium Autism Group; Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB. Weiner DJ, et al. Nat Genet. 2017 Jul;49(7):978-985. doi: 10.1038/ng.3863. Epub 2017 May 15. Nat Genet. 2017. PMID: 28504703 Free PMC article.
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D. Pérez-Palma E, et al. Among authors: howrigan dp. J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29. J Med Genet. 2017. PMID: 28756411 Free PMC article.
54 results