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Page 1
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. Among authors: cantor mn. Nat Commun. 2024 Sep 13;15(1):8029. doi: 10.1038/s41467-024-51819-3. Nat Commun. 2024. PMID: 39271666 Free PMC article.
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD, Li AH, Marcketta A, Sun D, Mbatchou J, Kessler MD, Benner C, Liu D, Locke AE, Balasubramanian S, Yadav A, Banerjee N, Gillies CE, Damask A, Liu S, Bai X, Hawes A, Maxwell E, Gurski L, Watanabe K, Kosmicki JA, Rajagopal V, Mighty J; Regeneron Genetics Center; DiscovEHR; Jones M, Mitnaul L, Stahl E, Coppola G, Jorgenson E, Habegger L, Salerno WJ, Shuldiner AR, Lotta LA, Overton JD, Cantor MN, Reid JG, Yancopoulos G, Kang HM, Marchini J, Baras A, Abecasis GR, Ferreira MAR. Backman JD, et al. Among authors: cantor mn. Nature. 2021 Nov;599(7886):628-634. doi: 10.1038/s41586-021-04103-z. Epub 2021 Oct 18. Nature. 2021. PMID: 34662886 Free PMC article.
Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, Damask A, O'Keeffe S, Banerjee N, Li D, Watanabe K, Marketta A, Van Meter M, Semrau S, Horowitz J, Tang J, Kosmicki JA, Rajagopal VM, Zou Y, Houvras Y, Ghosh A, Gillies C, Mbatchou J, White RR, Verweij N, Bovijn J, Parikshak NN, LeBlanc MG, Jones M; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Glass DJ, Lotta LA, Cantor MN, Atwal GS, Locke AE, Ferreira MAR, Deering R, Paulding C, Shuldiner AR, Thurston G, Ferrando AA, Salerno W, Reid JG, Overton JD, Marchini J, Kang HM, Baras A, Abecasis GR, Jorgenson E. Kessler MD, et al. Among authors: cantor mn. Nature. 2022 Dec;612(7939):301-309. doi: 10.1038/s41586-022-05448-9. Epub 2022 Nov 30. Nature. 2022. PMID: 36450978 Free PMC article.
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.
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
Vujkovic M, Keaton JM, Lynch JA, Miller DR, Zhou J, Tcheandjieu C, Huffman JE, Assimes TL, Lorenz K, Zhu X, Hilliard AT, Judy RL, Huang J, Lee KM, Klarin D, Pyarajan S, Danesh J, Melander O, Rasheed A, Mallick NH, Hameed S, Qureshi IH, Afzal MN, Malik U, Jalal A, Abbas S, Sheng X, Gao L, Kaestner KH, Susztak K, Sun YV, DuVall SL, Cho K, Lee JS, Gaziano JM, Phillips LS, Meigs JB, Reaven PD, Wilson PW, Edwards TL, Rader DJ, Damrauer SM, O'Donnell CJ, Tsao PS; HPAP Consortium; Regeneron Genetics Center; VA Million Veteran Program; Chang KM, Voight BF, Saleheen D. Vujkovic M, et al. Nat Genet. 2020 Jul;52(7):680-691. doi: 10.1038/s41588-020-0637-y. Epub 2020 Jun 15. Nat Genet. 2020. PMID: 32541925 Free PMC article.
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.
Horowitz JE, Kosmicki JA, Damask A, Sharma D, Roberts GHL, Justice AE, Banerjee N, Coignet MV, Yadav A, Leader JB, Marcketta A, Park DS, Lanche R, Maxwell E, Knight SC, Bai X, Guturu H, Sun D, Baltzell A, Kury FSP, Backman JD, Girshick AR, O'Dushlaine C, McCurdy SR, Partha R, Mansfield AJ, Turissini DA, Li AH, Zhang M, Mbatchou J, Watanabe K, Gurski L, McCarthy SE, Kang HM, Dobbyn L, Stahl E, Verma A, Sirugo G; Regeneron Genetics Center; Ritchie MD, Jones M, Balasubramanian S, Siminovitch K, Salerno WJ, Shuldiner AR, Rader DJ, Mirshahi T, Locke AE, Marchini J, Overton JD, Carey DJ, Habegger L, Cantor MN, Rand KA, Hong EL, Reid JG, Ball CA, Baras A, Abecasis GR, Ferreira MAR. Horowitz JE, et al. Among authors: cantor mn. Nat Genet. 2022 Apr;54(4):382-392. doi: 10.1038/s41588-021-01006-7. Epub 2022 Mar 3. Nat Genet. 2022. PMID: 35241825 Free PMC article.
Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, Damask A, O'Keeffe S, Banerjee N, Li D, Watanabe K, Marketta A, Van Meter M, Semrau S, Horowitz J, Tang J, Kosmicki JA, Rajagopal VM, Zou Y, Houvras Y, Ghosh A, Gillies C, Mbatchou J, White RR, Verweij N, Bovijn J, Parikshak NN, LeBlanc MG, Jones M; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Glass DJ, Lotta LA, Cantor MN, Atwal GS, Locke AE, Ferreira MAR, Deering R, Paulding C, Shuldiner AR, Thurston G, Ferrando AA, Salerno W, Reid JG, Overton JD, Marchini J, Kang HM, Baras A, Abecasis GR, Jorgenson E. Kessler MD, et al. Among authors: cantor mn. Nature. 2023 Mar;615(7950):E3. doi: 10.1038/s41586-023-05803-4. Nature. 2023. PMID: 36807635 Free PMC article. No abstract available.
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.
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis.
Zhou S, Sosina OA, Bovijn J, Laurent L, Sharma V, Akbari P, Forgetta V, Jiang L, Kosmicki JA, Banerjee N, Morris JA, Oerton E, Jones M, LeBlanc MG; Regeneron Genetics Center; Idone V, Overton JD, Reid JG, Cantor M, Abecasis GR, Goltzman D, Greenwood CMT, Langenberg C, Baras A, Economides AN, Ferreira MAR, Hatsell S, Ohlsson C, Richards JB, Lotta LA. Zhou S, et al. Nat Genet. 2023 Aug;55(8):1277-1287. doi: 10.1038/s41588-023-01444-5. Epub 2023 Aug 9. Nat Genet. 2023. PMID: 37558884
62 results