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Page 1
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Kotrys AV, Zhou W, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK. Gupta R, et al. Among authors: karczewski kj. Nature. 2023 Aug;620(7975):839-848. doi: 10.1038/s41586-023-06426-5. Epub 2023 Aug 16. Nature. 2023. PMID: 37587338 Free PMC article.
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK, Foss-Skiftesvik J, Hansen TVO, Rasmussen S, Karczewski KJ, Wadt KAW, Schmiegelow K. Stoltze UK, et al. Among authors: karczewski kj. Nat Commun. 2024 Feb 29;15(1):1881. doi: 10.1038/s41467-024-45975-9. Nat Commun. 2024. PMID: 38424437 Free PMC article.
Polygenic architecture of rare coding variation across 394,783 exomes.
Weiner DJ, Nadig A, Jagadeesh KA, Dey KK, Neale BM, Robinson EB, Karczewski KJ, O'Connor LJ. Weiner DJ, et al. Among authors: karczewski kj. Nature. 2023 Feb;614(7948):492-499. doi: 10.1038/s41586-022-05684-z. Epub 2023 Feb 8. Nature. 2023. PMID: 36755099 Free PMC article.
Autoimmune hypothyroidism GWAS reveals independent autoimmune and thyroid-specific contributions and an inverse relation with cancer risk.
Reeve M, Kanai M, Graham D, Karjalainen J, Luo S, Kolosov N, Adams C, Ritari J, Karczewski K, Kiiskinen T, Fuller Z, Mehtonen J, Kurki M, Khan Z, Partanen J, McCarthy M, Artomov M, Tuomi T, Pirinen M, Kero J, Xavier R, Daly M, Ripatti S, Gen F. Reeve M, et al. Res Sq [Preprint]. 2024 Jul 8:rs.3.rs-4626646. doi: 10.21203/rs.3.rs-4626646/v1. Res Sq. 2024. PMID: 39041034 Free PMC article. Preprint.
Haematological setpoints are a stable and patient-specific deep phenotype.
Foy BH, Petherbridge R, Roth MT, Zhang C, De Souza DC, Mow C, Patel HR, Patel CH, Ho SN, Lam E, Powe CE, Hasserjian RP, Karczewski KJ, Tozzo V, Higgins JM. Foy BH, et al. Among authors: karczewski kj. Nature. 2025 Jan;637(8045):430-438. doi: 10.1038/s41586-024-08264-5. Epub 2024 Dec 11. Nature. 2025. PMID: 39663453 Free PMC article.
The landscape of regional missense mutational intolerance quantified from 125,748 exomes.
Chao KR, Wang L, Panchal R, Liao C, Abderrazzaq H, Ye R, Schultz P, Compitello J, Grant RH, Kosmicki JA, Weisburd B, Phu W, Wilson MW, Laricchia KM, Goodrich JK, Goldstein D, Goldstein JI, Vittal C, Poterba T, Baxter S, Watts NA, Solomonson M; gnomAD Consortium; Tiao G, Rehm HL, Neale BM, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Karczewski KJ, Radivojac P, Daly MJ, Samocha KE. Chao KR, et al. Among authors: karczewski kj. bioRxiv [Preprint]. 2024 May 3:2024.04.11.588920. doi: 10.1101/2024.04.11.588920. bioRxiv. 2024. PMID: 38645134 Free PMC article. Preprint.
133 results