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Author Correction: 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. 2025 Jan 8. doi: 10.1038/s41586-024-08571-x. Online ahead of print. Nature. 2025. PMID: 39779867 No abstract available.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores.
Abramowitz SA, Boulier K, Keat K, Cardone KM, Shivakumar M, DePaolo J, Judy R, Bermudez F, Mimouni N, Neylan C, Kim D, Rader DJ, Ritchie MD, Voight BF, Pasaniuc B, Levin MG, Damrauer SM; Penn Medicine BioBank. Abramowitz SA, et al. JAMA. 2025 Jan 7;333(1):60-70. doi: 10.1001/jama.2024.23784. JAMA. 2025. PMID: 39549270
Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions.
Phung L, Wood E, Egleston B, Hoffman-Andrews L, Ofidis D, Howe S, Mim R, Griffin H, Fetzer D, Owens A, Domchek S, Pyeritz R, Katona B, Kallish S, Sirugo G, Weaver J, Nathanson KL, Rader DJ, Bradbury AR. Phung L, et al. Among authors: sirugo g. HGG Adv. 2024 Oct 10;5(4):100346. doi: 10.1016/j.xhgg.2024.100346. Epub 2024 Aug 24. HGG Adv. 2024. PMID: 39183478 Free PMC article. Clinical Trial.
Genetic risk factors for COVID-19 and influenza are largely distinct.
Kosmicki JA, Marcketta A, Sharma D, Di Gioia SA, Batista S, Yang XM, Tzoneva G, Martinez H, Sidore C, Kessler MD, Horowitz JE, Roberts GHL, Justice AE, Banerjee N, Coignet MV, Leader JB, Park DS, Lanche R, Maxwell E, Knight SC, Bai X, Guturu H, Baltzell A, Girshick AR, McCurdy SR, Partha R, Mansfield AJ, Turissini DA, Zhang M, Mbatchou J, Watanabe K, Verma A, Sirugo G; Colorado Center for Precision Medicine; Mayo Clinic Project Generation; Regeneron Genetics Center; University of California Los Angeles ATLAS Collaboration; Ritchie MD, Salerno WJ, Shuldiner AR, Rader DJ, Mirshahi T, Marchini J, Overton JD, Carey DJ, Habegger L, Reid JG, Economides A, Kyratsous C, Karalis K, Baum A, Cantor MN, Rand KA, Hong EL, Ball CA, Siminovitch K, Baras A, Abecasis GR, Ferreira MAR. Kosmicki JA, et al. Among authors: sirugo g. Nat Genet. 2024 Aug;56(8):1592-1596. doi: 10.1038/s41588-024-01844-1. Epub 2024 Aug 5. Nat Genet. 2024. PMID: 39103650 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.
145 results