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ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.
Commun Biol. 2022 Oct 3;5(1):1051. doi: 10.1038/s42003-022-03932-6.
Commun Biol. 2022.
PMID: 36192519
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.
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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K, Dobbyn L, Gurski L, Ayer AH, Staples J, Mishra S, Bai Y, Kaufman A, Moscati A, Benner C, Chen E, Chen S, Popov A, Smith J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Decibel-REGN collaboration; Melander O, Jones MB, Marchini J, Balasubramanian S, Zambrowicz B, Drummond MC, Baras A, Abecasis GR, Ferreira MA, Stahl EA, Coppola G.
Praveen K, et al.
Commun Biol. 2022 Jun 3;5(1):540. doi: 10.1038/s42003-022-03408-7.
Commun Biol. 2022.
PMID: 35661827
Free PMC article.
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Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.
Deaton AM, Parker MM, Ward LD, Flynn-Carroll AO, BonDurant L, Hinkle G, Akbari P, Lotta LA; Regeneron Genetics Center; DiscovEHR Collaboration; Baras A, Nioi P.
Deaton AM, et al.
Sci Rep. 2021 Nov 3;11(1):21565. doi: 10.1038/s41598-021-99091-5.
Sci Rep. 2021.
PMID: 34732801
Free PMC article.
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GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Ward LD, Tu HC, Quenneville CB, Tsour S, Flynn-Carroll AO, Parker MM, Deaton AM, Haslett PAJ, Lotta LA, Verweij N, Ferreira MAR; Regeneron Genetics Center; Geisinger-Regeneron DiscovEHR Collaboration; Baras A, Hinkle G, Nioi P.
Ward LD, et al.
Nat Commun. 2021 Jul 27;12(1):4571. doi: 10.1038/s41467-021-24563-1.
Nat Commun. 2021.
PMID: 34315874
Free PMC article.
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