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Page 1
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Merkle FT, Ghosh S, Genovese G, Handsaker RE, Kashin S, Meyer D, Karczewski KJ, O'Dushlaine C, Pato C, Pato M, MacArthur DG, McCarroll SA, Eggan K. Merkle FT, et al. Among authors: pato c, pato m. Cell Stem Cell. 2022 Mar 3;29(3):472-486.e7. doi: 10.1016/j.stem.2022.01.011. Epub 2022 Feb 16. Cell Stem Cell. 2022. PMID: 35176222 Free PMC article.
The effect of LRRK2 loss-of-function variants in humans.
Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C; 23andMe Research Team; Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alföldi J, Cannon P, MacArthur DG. Whiffin N, et al. Among authors: pato c, pato m. Nat Med. 2020 Jun;26(6):869-877. doi: 10.1038/s41591-020-0893-5. Epub 2020 May 27. Nat Med. 2020. PMID: 32461697 Free PMC article.
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. Jia X, et al. Among authors: pato c, pato m. Mol Psychiatry. 2021 Sep;26(9):5239-5250. doi: 10.1038/s41380-020-01006-9. Epub 2021 Jan 22. Mol Psychiatry. 2021. PMID: 33483695 Free PMC article.
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.
Blokland GAM, Grove J, Chen CY, Cotsapas C, Tobet S, Handa R; Schizophrenia Working Group of the Psychiatric Genomics Consortium; St Clair D, Lencz T, Mowry BJ, Periyasamy S, Cairns MJ, Tooney PA, Wu JQ, Kelly B, Kirov G, Sullivan PF, Corvin A, Riley BP, Esko T, Milani L, Jönsson EG, Palotie A, Ehrenreich H, Begemann M, Steixner-Kumar A, Sham PC, Iwata N, Weinberger DR, Gejman PV, Sanders AR, Buxbaum JD, Rujescu D, Giegling I, Konte B, Hartmann AM, Bramon E, Murray RM, Pato MT, Lee J, Melle I, Molden E, Ophoff RA, McQuillin A, Bass NJ, Adolfsson R, Malhotra AK; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Martin NG, Fullerton JM, Mitchell PB, Schofield PR, Forstner AJ, Degenhardt F, Schaupp S, Comes AL, Kogevinas M, Guzman-Parra J, Reif A, Streit F, Sirignano L, Cichon S, Grigoroiu-Serbanescu M, Hauser J, Lissowska J, Mayoral F, Müller-Myhsok B, Świątkowska B, Schulze TG, Nöthen MM, Rietschel M, Kelsoe J, Leboyer M, Jamain S, Etain B, Bellivier F, Vincent JB, Alda M, O'Donovan C, Cervantes P, Biernacka JM, Frye M, McElroy SL, Scott LJ, Stahl EA, Landén M, Hamshere ML, Smeland OB, Djurovic S, Vaaler AE, Andreassen OA; Major Depressive Disorder Worki… See abstract for full author list ➔ Blokland GAM, et al. Among authors: pato mt. Biol Psychiatry. 2022 Jan 1;91(1):102-117. doi: 10.1016/j.biopsych.2021.02.972. Epub 2021 Mar 23. Biol Psychiatry. 2022. PMID: 34099189 Free PMC article.
Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness.
Bigdeli TB, Ripke S, Bacanu SA, Lee SH, Wray NR, Gejman PV, Rietschel M, Cichon S, St Clair D, Corvin A, Kirov G, McQuillin A, Gurling H, Rujescu D, Andreassen OA, Werge T, Blackwood DH, Pato CN, Pato MT, Malhotra AK, O'Donovan MC, Kendler KS, Fanous AH; Schizophrenia Working Group of the Psychiatric Genomics Consortium. Bigdeli TB, et al. Among authors: pato cn, pato mt. Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):276-89. doi: 10.1002/ajmg.b.32402. Epub 2015 Dec 11. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 26663532 Free PMC article.
Complement genes contribute sex-biased vulnerability in diverse disorders.
Kamitaki N, Sekar A, Handsaker RE, de Rivera H, Tooley K, Morris DL, Taylor KE, Whelan CW, Tombleson P, Loohuis LMO; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Boehnke M, Kimberly RP, Kaufman KM, Harley JB, Langefeld CD, Seidman CE, Pato MT, Pato CN, Ophoff RA, Graham RR, Criswell LA, Vyse TJ, McCarroll SA. Kamitaki N, et al. Among authors: pato cn, pato mt. Nature. 2020 Jun;582(7813):577-581. doi: 10.1038/s41586-020-2277-x. Epub 2020 May 11. Nature. 2020. PMID: 32499649 Free PMC article.
Evidence that duplications of 22q11.2 protect against schizophrenia.
Rees E, Kirov G, Sanders A, Walters JT, Chambert KD, Shi J, Szatkiewicz J, O'Dushlaine C, Richards AL, Green EK, Jones I, Davies G, Legge SE, Moran JL, Pato C, Pato M, Genovese G, Levinson D, Duan J, Moy W, Göring HH, Morris D, Cormican P, Kendler KS, O'Neill FA, Riley B, Gill M, Corvin A; Wellcome Trust Case Control Consortium; Craddock N, Sklar P, Hultman C, Sullivan PF, Gejman PV, McCarroll SA, O'Donovan MC, Owen MJ. Rees E, et al. Among authors: pato c, pato m. Mol Psychiatry. 2014 Jan;19(1):37-40. doi: 10.1038/mp.2013.156. Epub 2013 Nov 12. Mol Psychiatry. 2014. PMID: 24217254 Free PMC article.
Author Correction: The effect of LRRK2 loss-of-function variants in humans.
Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C; 23andMe Research Team; Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alföldi J, Cannon P, MacArthur DG. Whiffin N, et al. Among authors: pato c, pato m. Nat Med. 2021 Feb;27(2):355. doi: 10.1038/s41591-020-01185-6. Nat Med. 2021. PMID: 33483629 Free PMC article. No abstract available.
Genetic analyses of schizophrenia.
Pato CN, Schindler KM, Pato MT. Pato CN, et al. Among authors: pato mt. Curr Psychiatry Rep. 2000 Apr;2(2):137-42. doi: 10.1007/s11920-000-0058-7. Curr Psychiatry Rep. 2000. PMID: 11122946 Review.
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.
Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study; Kathiresan S, Pato M, Pato C, Tamimi R, Stahl E, Zaitlen N, Pasaniuc B, Belbin G, Kenny EE, Schierup MH, De Jager P, Patsopoulos NA, McCarroll S, Daly M, Purcell S, Chasman D, Neale B, Goddard M, Visscher PM, Kraft P, Patterson N, Price AL. Vilhjálmsson BJ, et al. Among authors: pato c, pato m. Am J Hum Genet. 2015 Oct 1;97(4):576-92. doi: 10.1016/j.ajhg.2015.09.001. Am J Hum Genet. 2015. PMID: 26430803 Free PMC article.
368 results