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Page 1
A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2024 Jul;631(8021):583-592. doi: 10.1038/s41586-024-07556-0. Epub 2024 May 20. Nature. 2024. PMID: 38768635 Free PMC article.
A large meta-analysis identifies genes associated with anterior uveitis.
Gelfman S, Moscati A, Huergo SM, Wang R, Rajagopal V, Parikshak N, Pounraja VK, Chen E, Leblanc M, Hazlewood R, Freudenberg J, Cooper B, Ligocki AJ, Miller CG, Van Zyl T, Weyne J, Romano C, Sagdullaev B, Melander O, Baras A; Regeneron Genetics Center; Stahl EA, Coppola G. Gelfman S, et al. Nat Commun. 2023 Nov 11;14(1):7300. doi: 10.1038/s41467-023-43036-1. Nat Commun. 2023. PMID: 37949852 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.
Teratogen screening with human pluripotent stem cells.
Worley KE, Rico-Varela J, Ho D, Wan LQ. Worley KE, et al. Among authors: rico varela j. Integr Biol (Camb). 2018 Sep 17;10(9):491-501. doi: 10.1039/c8ib00082d. Integr Biol (Camb). 2018. PMID: 30095839 Free PMC article. Review.
Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk.
Vad OB, Monfort LM, Paludan-Müller C, Kahnert K, Diederichsen SZ, Andreasen L, Lotta LA, Nielsen JB, Lundby A, Svendsen JH, Olesen MS; Geisinger MyCode Community Health Initiative and the Regeneron Genetics Center (RGC) Research Team. Vad OB, et al. JAMA Cardiol. 2024 Aug 1;9(8):732-740. doi: 10.1001/jamacardio.2024.1528. JAMA Cardiol. 2024. PMID: 38922602 Free PMC article.
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Rodriguez-Flores JL, Khalid S, Parikshak N, Rasheed A, Ye B, Kapoor M, Backman J, Sepehrband F, Gioia SAD, Gelfman S, De T, Banerjee N, Sharma D, Martinez H, Castaneda S, D'Ambrosio D, Zhang XA, Xun P, Tsai E, Tsai IC; Regeneron Genetics Center; Khan MZ, Jahanzaib M, Mian MR, Liaqat MB, Mahmood K, Salam TU, Hussain M, Iqbal J, Aslam F, Cantor MN, Tzoneva G, Overton J, Marchini J, Reid JG, Baras A, Verweij N, Lotta LA, Coppola G, Karalis K, Economides A, Fazio S, Liedtke W, Danesh J, Kamal A, Frossard P, Coleman T, Shuldiner AR, Saleheen D. Rodriguez-Flores JL, et al. Nat Commun. 2024 Sep 13;15(1):8029. doi: 10.1038/s41467-024-51819-3. Nat Commun. 2024. PMID: 39271666 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.
In Vitro Microscale Models for Embryogenesis.
Rico-Varela J, Ho D, Wan LQ. Rico-Varela J, et al. Adv Biosyst. 2018 Jun;2(6):1700235. doi: 10.1002/adbi.201700235. Epub 2018 May 7. Adv Biosyst. 2018. PMID: 30533517 Free PMC article.
Author Correction: 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. 2024 Feb;626(8001):E18. doi: 10.1038/s41586-024-07051-6. Nature. 2024. PMID: 38332034 Free PMC article. No abstract available.