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Page 1
Functional annotation of rare structural variation in the human brain.
Han L, Zhao X, Benton ML, Perumal T, Collins RL, Hoffman GE, Johnson JS, Sloofman L, Wang HZ, Stone MR; CommonMind Consortium; Brennand KJ, Brand H, Sieberts SK, Marenco S, Peters MA, Lipska BK, Roussos P, Capra JA, Talkowski M, Ruderfer DM. Han L, et al. Nat Commun. 2020 Jun 12;11(1):2990. doi: 10.1038/s41467-020-16736-1. Nat Commun. 2020. PMID: 32533064 Free PMC article.
A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
Characterization of Single Gene Copy Number Variants in Schizophrenia.
Szatkiewicz JP, Fromer M, Nonneman RJ, Ancalade N, Johnson JS, Stahl EA, Rees E, Bergen SE, Hultman CM, Kirov G, O'Donovan M, Owen M, Holmans P, Sklar P, Sullivan PF, Purcell SM, Crowley JJ, Ruderfer DM. Szatkiewicz JP, et al. Biol Psychiatry. 2020 Apr 15;87(8):736-744. doi: 10.1016/j.biopsych.2019.09.023. Epub 2019 Oct 4. Biol Psychiatry. 2020. PMID: 31767120 Free PMC article.
Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems.
Zheutlin AB, Dennis J, Karlsson Linnér R, Moscati A, Restrepo N, Straub P, Ruderfer D, Castro VM, Chen CY, Ge T, Huckins LM, Charney A, Kirchner HL, Stahl EA, Chabris CF, Davis LK, Smoller JW. Zheutlin AB, et al. Am J Psychiatry. 2019 Oct 1;176(10):846-855. doi: 10.1176/appi.ajp.2019.18091085. Epub 2019 Aug 16. Am J Psychiatry. 2019. PMID: 31416338 Free PMC article.
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.
Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu; Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu, et al. Cell. 2018 Jun 14;173(7):1705-1715.e16. doi: 10.1016/j.cell.2018.05.046. Cell. 2018. PMID: 29906448 Free PMC article.