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Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation.
Varshney A, Manickam N, Orchard P, Tovar A, Zhang Z, Feng F, Erdos MR, Narisu N, Ventresca C, Nishino K, Rai V, Stringham HM, Jackson AU, Tamsen T, Gao C, Yang M, Koues OI, Welch JD, Burant CF, Williams LK, Jenkinson C, DeFronzo RA, Norton L, Saramies J, Lakka TA, Laakso M, Tuomilehto J, Mohlke KL, Kitzman JO, Koistinen HA, Liu J, Boehnke M, Collins FS, Scott LJ, Parker SCJ. Varshney A, et al. bioRxiv [Preprint]. 2023 Dec 15:2023.12.15.571696. doi: 10.1101/2023.12.15.571696. bioRxiv. 2023. PMID: 38168419 Free PMC article. Preprint.
Adipose tissue eQTL meta-analysis reveals the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits.
Brotman SM, El-Sayed Moustafa JS, Guan L, Broadaway KA, Wang D, Jackson AU, Welch R, Currin KW, Tomlinson M, Vadlamudi S, Stringham HM, Roberts AL, Lakka TA, Oravilahti A, Silva LF, Narisu N, Erdos MR, Yan T, Bonnycastle LL, Raulerson CK, Raza Y, Yan X, Parker SCJ, Kuusisto J, Pajukanta P, Tuomilehto J, Collins FS, Boehnke M, Love MI, Koistinen HA, Laakso M, Mohlke KL, Small KS, Scott LJ. Brotman SM, et al. bioRxiv [Preprint]. 2023 Oct 27:2023.10.26.563798. doi: 10.1101/2023.10.26.563798. bioRxiv. 2023. PMID: 37961277 Free PMC article. Preprint.
An integrative single-cell multi-omics profiling of human pancreatic islets identifies T1D associated genes and regulatory signals.
Zhao Z, D'Oliveira Albanus R, Taylor H, Tang X, Han Y, Orchard P, Varshney A, Zhang T, Manickam N, Erdos M, Narisu N, Taylor L, Saavedra X, Zhong A, Li B, Zhou T, Naji A, Liu C, Collins F, Parker SC, Chen S. Zhao Z, et al. Res Sq [Preprint]. 2023 Oct 18:rs.3.rs-3343318. doi: 10.21203/rs.3.rs-3343318/v1. Res Sq. 2023. PMID: 37886586 Free PMC article. Preprint.
Functional interrogation of twenty type 2 diabetes-associated genes using isogenic human embryonic stem cell-derived β-like cells.
Xue D, Narisu N, Taylor DL, Zhang M, Grenko C, Taylor HJ, Yan T, Tang X, Sinha N, Zhu J, Vandana JJ, Nok Chong AC, Lee A, Mansell EC, Swift AJ, Erdos MR, Zhong A, Bonnycastle LL, Zhou T, Chen S, Collins FS. Xue D, et al. Cell Metab. 2023 Nov 7;35(11):1897-1914.e11. doi: 10.1016/j.cmet.2023.09.013. Epub 2023 Oct 18. Cell Metab. 2023. PMID: 37858332 Free article.
Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits.
Hudaiberdiev S, Taylor DL, Song W, Narisu N, Bhuiyan RM, Taylor HJ, Tang X, Yan T, Swift AJ, Bonnycastle LL, Consortium D, Chen S, Stitzel ML, Erdos MR, Ovcharenko I, Collins FS. Hudaiberdiev S, et al. Proc Natl Acad Sci U S A. 2023 Aug 29;120(35):e2206612120. doi: 10.1073/pnas.2206612120. Epub 2023 Aug 21. Proc Natl Acad Sci U S A. 2023. PMID: 37603758 Free PMC article.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
142 results