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Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.
Nishioka M, Takayama J, Sakai N, Kazuno AA, Ishiwata M, Ueda J, Hayama T, Fujii K, Someya T, Kuriyama S, Tamiya G, Takata A, Kato T. Nishioka M, et al. Mol Psychiatry. 2023 Oct;28(10):4294-4306. doi: 10.1038/s41380-023-02096-x. Epub 2023 May 30. Mol Psychiatry. 2023. PMID: 37248276 Free PMC article.
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
Nishioka M, Kazuno AA, Nakamura T, Sakai N, Hayama T, Fujii K, Matsuo K, Komori A, Ishiwata M, Watanabe Y, Oka T, Matoba N, Kataoka M, Alkanaq AN, Hamanaka K, Tsuboi T, Sengoku T, Ogata K, Iwata N, Ikeda M, Matsumoto N, Kato T, Takata A. Nishioka M, et al. Nat Commun. 2021 Jun 18;12(1):3750. doi: 10.1038/s41467-021-23453-w. Nat Commun. 2021. PMID: 34145229 Free PMC article.
Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits.
Ghoshal A, Uygun DS, Yang L, McNally JM, Lopez-Huerta VG, Arias-Garcia MA, Baez-Nieto D, Allen A, Fitzgerald M, Choi S, Zhang Q, Hope JM, Yan K, Mao X, Nicholson TB, Imaizumi K, Fu Z, Feng G, Brown RE, Strecker RE, Purcell SM, Pan JQ. Ghoshal A, et al. Transl Psychiatry. 2020 Jan 23;10(1):29. doi: 10.1038/s41398-020-0685-1. Transl Psychiatry. 2020. PMID: 32066662 Free PMC article.
A fully adjusted two-stage procedure for rank-normalization in genetic association studies.
Sofer T, Zheng X, Gogarten SM, Laurie CA, Grinde K, Shaffer JR, Shungin D, O'Connell JR, Durazo-Arvizo RA, Raffield L, Lange L, Musani S, Vasan RS, Cupples LA, Reiner AP; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Laurie CC, Rice KM. Sofer T, et al. Genet Epidemiol. 2019 Apr;43(3):263-275. doi: 10.1002/gepi.22188. Epub 2019 Jan 17. Genet Epidemiol. 2019. PMID: 30653739 Free PMC article.
23 results