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Page 1
Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions.
Xiao B, Velez Edwards DR, Lucas A, Drivas T, Gray K, Keating B, Weng C, Jarvik GP, Hakonarson H, Kottyan L, Elhadad N, Wei WQ, Luo Y, Kim D, Ritchie M, Verma SS; Regeneron Genetics Center *. Xiao B, et al. J Am Heart Assoc. 2023 Mar 7;12(5):e026561. doi: 10.1161/JAHA.121.026561. Epub 2023 Feb 27. J Am Heart Assoc. 2023. PMID: 36846987 Free PMC article.
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Rajagopal VM, Watanabe K, Mbatchou J, Ayer A, Quon P, Sharma D, Kessler MD, Praveen K, Gelfman S, Parikshak N, Otto JM, Bao S, Chim SM, Pavlopoulos E, Avbersek A, Kapoor M, Chen E, Jones MB, Leblanc M, Emberson J, Collins R, Torres J, Morales PK, Tapia-Conyer R, Alegre J, Berumen J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Shuldiner AR, Balasubramanian S, Abecasis GR, Kang HM, Marchini J, Stahl EA, Jorgenson E, Sanchez R, Liedtke W, Anderson M, Cantor M, Lederer D, Baras A, Coppola G. Rajagopal VM, et al. Nat Genet. 2023 Jul;55(7):1138-1148. doi: 10.1038/s41588-023-01417-8. Epub 2023 Jun 12. Nat Genet. 2023. PMID: 37308787 Free PMC article.
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Ziyatdinov A, Torres J, Alegre-Díaz J, Backman J, Mbatchou J, Turner M, Gaynor SM, Joseph T, Zou Y, Liu D, Wade R, Staples J, Panea R, Popov A, Bai X, Balasubramanian S, Habegger L, Lanche R, Lopez A, Maxwell E, Jones M, García-Ortiz H, Ramirez-Reyes R, Santacruz-Benítez R, Nag A, Smith KR, Damask A, Lin N, Paulding C, Reppell M, Zöllner S, Jorgenson E, Salerno W, Petrovski S, Overton J, Reid J, Thornton TA, Abecasis G, Berumen J, Orozco-Orozco L, Collins R; Regeneron Genetics Center; Mexico City Prospective Study; Baras A, Hill MR, Emberson JR, Marchini J, Kuri-Morales P, Tapia-Conyer R. Ziyatdinov A, et al. Nature. 2023 Oct;622(7984):784-793. doi: 10.1038/s41586-023-06595-3. Epub 2023 Oct 11. Nature. 2023. PMID: 37821707 Free PMC article.
A common TCN1 loss-of-function variant is associated with lower vitamin B12 concentration in African Americans.
Hu Y, Raffield LM, Polfus LM, Moscati A, Nadkarni G, Preuss MH, Zhong X, Wei Q, Rich SS, Li Y, Wilson JG, Correa A, Loos RJF, Li B, Auer PL, Reiner AP; NHLBI Trans-Omics for Precision Medicine Consortium. Hu Y, et al. Among authors: moscati a. Blood. 2018 Jun 21;131(25):2859-2863. doi: 10.1182/blood-2018-03-841023. Epub 2018 May 15. Blood. 2018. PMID: 29764838 Free PMC article. No abstract available.
Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.
Polfus LM, Raffield LM, Wheeler MM, Tracy RP, Lange LA, Lettre G, Miller A, Correa A, Bowler RP, Bis JC, Salimi S, Jenny NS, Pankratz N, Wang B, Preuss MH, Zhou L, Moscati A, Nadkarni GN, Loos RJF, Zhong X, Li B, Johnsen JM, Nickerson DA, Reiner AP, Auer PL; NHLBI Trans-Omics for Precision Medicine Consortium. Polfus LM, et al. Among authors: moscati a. Hum Mol Genet. 2019 Feb 1;28(3):515-523. doi: 10.1093/hmg/ddy360. Hum Mol Genet. 2019. PMID: 30307499 Free PMC article.
Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity.
Dallner OS, Marinis JM, Lu YH, Birsoy K, Werner E, Fayzikhodjaeva G, Dill BD, Molina H, Moscati A, Kutalik Z, Marques-Vidal P, Kilpeläinen TO, Grarup N, Linneberg A, Zhang Y, Vaughan R, Loos RJF, Lazar MA, Friedman JM. Dallner OS, et al. Among authors: moscati a. Nat Med. 2019 Mar;25(3):507-516. doi: 10.1038/s41591-019-0370-1. Epub 2019 Mar 6. Nat Med. 2019. PMID: 30842678
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, Rodriguez JE; CBIPM Genomics Team; Regeneron Genetics Center; Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE. Abul-Husn NS, et al. Among authors: moscati a. Genome Med. 2019 Dec 31;12(1):2. doi: 10.1186/s13073-019-0691-1. Genome Med. 2019. PMID: 31892343 Free PMC article.
84 results