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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA; Care4Rare Canada Consortium; Boycott KM, Geraghty MT, van Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A. Lee RG, et al. Among authors: zhou y. Hum Mol Genet. 2022 Oct 28;31(21):3597-3612. doi: 10.1093/hmg/ddac040. Hum Mol Genet. 2022. PMID: 35147173 Free PMC article.
Fast two-stage phasing of large-scale sequence data.
Browning BL, Tian X, Zhou Y, Browning SR. Browning BL, et al. Among authors: zhou y. Am J Hum Genet. 2021 Oct 7;108(10):1880-1890. doi: 10.1016/j.ajhg.2021.08.005. Epub 2021 Sep 2. Am J Hum Genet. 2021. PMID: 34478634 Free PMC article.
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data.
Huang L, Rosen JD, Sun Q, Chen J, Wheeler MM, Zhou Y, Min YI, Kooperberg C, Conomos MP, Stilp AM, Rich SS, Rotter JI, Manichaikul A, Loos RJF, Kenny EE, Blackwell TW, Smith AV, Jun G, Sedlazeck FJ, Metcalf G, Boerwinkle E; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Raffield LM, Reiner AP, Auer PL, Li Y. Huang L, et al. Among authors: zhou y. Am J Hum Genet. 2022 Jun 2;109(6):1175-1181. doi: 10.1016/j.ajhg.2022.04.006. Epub 2022 May 2. Am J Hum Genet. 2022. PMID: 35504290 Free PMC article.
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals.
Hou K, Ding Y, Xu Z, Wu Y, Bhattacharya A, Mester R, Belbin GM, Buyske S, Conti DV, Darst BF, Fornage M, Gignoux C, Guo X, Haiman C, Kenny EE, Kim M, Kooperberg C, Lange L, Manichaikul A, North KE, Peters U, Rasmussen-Torvik LJ, Rich SS, Rotter JI, Wheeler HE, Wojcik GL, Zhou Y, Sankararaman S, Pasaniuc B. Hou K, et al. Among authors: zhou y. Nat Genet. 2023 Apr;55(4):549-558. doi: 10.1038/s41588-023-01338-6. Epub 2023 Mar 20. Nat Genet. 2023. PMID: 36941441
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.
Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MS, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X. Li Z, et al. Among authors: zhou h. Nat Methods. 2022 Dec;19(12):1599-1611. doi: 10.1038/s41592-022-01640-x. Epub 2022 Oct 27. Nat Methods. 2022. PMID: 36303018 Free PMC article.
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