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Page 1
A brief history of human disease genetics.
Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. Claussnitzer M, et al. Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7. Epub 2020 Jan 8. Nature. 2020. PMID: 31915397 Free PMC article. Review.
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Bastarache L, et al. Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043. Science. 2018. PMID: 29590070 Free PMC article.
Genome sequencing unveils a regulatory landscape of platelet reactivity.
Keramati AR, Chen MH, Rodriguez BAT, Yanek LR, Bhan A, Gaynor BJ, Ryan K, Brody JA, Zhong X, Wei Q; NHLBI Trans-Omics for Precision (TOPMed) Consortium; Kammers K, Kanchan K, Iyer K, Kowalski MH, Pitsillides AN, Cupples LA, Li B, Schlaeger TM, Shuldiner AR, O'Connell JR, Ruczinski I, Mitchell BD, Faraday N, Taub MA, Becker LC, Lewis JP, Mathias RA, Johnson AD. Keramati AR, et al. Nat Commun. 2021 Jun 15;12(1):3626. doi: 10.1038/s41467-021-23470-9. Nat Commun. 2021. PMID: 34131117 Free PMC article.
Synaptic processes and immune-related pathways implicated in Tourette syndrome.
Tsetsos F, Yu D, Sul JH, Huang AY, Illmann C, Osiecki L, Darrow SM, Hirschtritt ME, Greenberg E, Muller-Vahl KR, Stuhrmann M, Dion Y, Rouleau GA, Aschauer H, Stamenkovic M, Schlögelhofer M, Sandor P, Barr CL, Grados MA, Singer HS, Nöthen MM, Hebebrand J, Hinney A, King RA, Fernandez TV, Barta C, Tarnok Z, Nagy P, Depienne C, Worbe Y, Hartmann A, Budman CL, Rizzo R, Lyon GJ, McMahon WM, Batterson JR, Cath DC, Malaty IA, Okun MS, Berlin C, Woods DW, Lee PC, Jankovic J, Robertson MM, Gilbert DL, Brown LW, Coffey BJ, Dietrich A, Hoekstra PJ, Kuperman S, Zinner SH, Wagner M, Knowles JA, Jeremy Willsey A, Tischfield JA, Heiman GA, Cox NJ, Freimer NB, Neale BM, Davis LK, Coppola G, Mathews CA, Scharf JM, Paschou P; Tourette Association of America International Consortium for Genetics; Barr CL, Batterson JR, Berlin C, Budman CL, Cath DC, Coppola G, Cox NJ, Darrow S, Davis LK, Dion Y, Freimer NB, Grados MA, Greenberg E, Hirschtritt ME, Huang AY, Illmann C, King RA, Kurlan R, Leckman JF, Lyon GJ, Malaty IA, Mathews CA, McMahon WM, Neale BM, Okun MS, Osiecki L, Robertson MM, Rouleau GA, Sandor P, Scharf JM, Singer HS, Smit JH, Sul JH, Yu D; Gilles de la Tourette GWAS Replication Initiative; … See abstract for full author list ➔ Tsetsos F, et al. Transl Psychiatry. 2021 Jan 18;11(1):56. doi: 10.1038/s41398-020-01082-z. Transl Psychiatry. 2021. PMID: 33462189 Free PMC article.
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.
Vysotskiy M, Zhong X, Miller-Fleming TW, Zhou D; Autism Working Group of the Psychiatric Genomics Consortium^; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium^; Schizophrenia Working Group of the Psychiatric Genomics Consortium^; Cox NJ, Weiss LA. Vysotskiy M, et al. Genome Med. 2021 Oct 29;13(1):172. doi: 10.1186/s13073-021-00972-1. Genome Med. 2021. PMID: 34715901 Free PMC article.
A Genetic Approach to the Association Between PCSK9 and Sepsis.
Feng Q, Wei WQ, Chaugai S, Carranza Leon BG, Kawai V, Carranza Leon DA, Jiang L, Zhong X, Liu G, Ihegword A, Shaffer CM, Linton MF, Chung CP, Stein CM. Feng Q, et al. JAMA Netw Open. 2019 Sep 4;2(9):e1911130. doi: 10.1001/jamanetworkopen.2019.11130. JAMA Netw Open. 2019. PMID: 31509211 Free PMC article.
37 results