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Disease prediction with multi-omics and biomarkers empowers case-control genetic discoveries in the UK Biobank.
Garg M, Karpinski M, Matelska D, Middleton L, Burren OS, Hu F, Wheeler E, Smith KR, Fabre MA, Mitchell J, O'Neill A, Ashley EA, Harper AR, Wang Q, Dhindsa RS, Petrovski S, Vitsios D. Garg M, et al. Among authors: fabre ma. Nat Genet. 2024 Sep;56(9):1821-1831. doi: 10.1038/s41588-024-01898-1. Epub 2024 Sep 11. Nat Genet. 2024. PMID: 39261665 Free PMC article.
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS, Burren OS, Sun BB, Prins BP, Matelska D, Wheeler E, Mitchell J, Oerton E, Hristova VA, Smith KR, Carss K, Wasilewski S, Harper AR, Paul DS, Fabre MA, Runz H, Viollet C, Challis B, Platt A; AstraZeneca Genomics Initiative; Vitsios D, Ashley EA, Whelan CD, Pangalos MN, Wang Q, Petrovski S. Dhindsa RS, et al. Among authors: fabre ma. Nature. 2023 Oct;622(7982):339-347. doi: 10.1038/s41586-023-06547-x. Epub 2023 Oct 4. Nature. 2023. PMID: 37794183 Free PMC article.
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Burren OS, Dhindsa RS, Deevi SVV, Wen S, Nag A, Mitchell J, Hu F, Loesch DP, Smith KR, Razdan N, Olsson H, Platt A, Vitsios D, Wu Q; AstraZeneca Genomics Initiative; Codd V, Nelson CP, Samani NJ, March RE, Wasilewski S, Carss K, Fabre M, Wang Q, Pangalos MN, Petrovski S. Burren OS, et al. Nat Genet. 2024 Sep;56(9):1832-1840. doi: 10.1038/s41588-024-01884-7. Epub 2024 Aug 27. Nat Genet. 2024. PMID: 39192095 Free PMC article.
Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.
Mitchell J, Camacho N, Shea P, Stopsack KH, Joseph V, Burren O, Dhindsa R, Nag A, Berchuck JE, O'Neill A, Abbasi A, Zoghbi AW, Alegre-Díaz J, Kuri-Morales P, Berumen J, Tapia-Conyer R, Emberson J, Torres JM, Collins R, Wang Q, Goldstein D, Matakidou A, Haefliger C, Anderson-Dring L, March R, Jobanputra V, Dougherty B, Carss K, Petrovski S, Kantoff PW, Offit K, Mucci LA, Pomerantz M, Fabre MA. Mitchell J, et al. Among authors: fabre ma. medRxiv [Preprint]. 2024 May 10:2024.05.10.24307164. doi: 10.1101/2024.05.10.24307164. medRxiv. 2024. PMID: 38766261 Free PMC article. Preprint.
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK, Pelttari LM, Kiiski JI, Khan S, Nurmikolu M, Suvanto M, Aho N, Tasmuth T, Kalso E, Schleutker J, Kallioniemi A, Heikkilä P; FinnGen; Aittomäki K, Blomqvist C, Nevanlinna H. Nurmi AK, et al. Sci Rep. 2023 Nov 30;13(1):21127. doi: 10.1038/s41598-023-47441-w. Sci Rep. 2023. PMID: 38036545 Free PMC article.
Clonal selection of hematopoietic stem cells after gene therapy for sickle cell disease.
Spencer Chapman M, Cull AH, Ciuculescu MF, Esrick EB, Mitchell E, Jung H, O'Neill L, Roberts K, Fabre MA, Williams N, Nangalia J, Quinton J, Fox JM, Pellin D, Makani J, Armant M, Williams DA, Campbell PJ, Kent DG. Spencer Chapman M, et al. Among authors: fabre ma. Nat Med. 2023 Dec;29(12):3175-3183. doi: 10.1038/s41591-023-02636-6. Epub 2023 Nov 16. Nat Med. 2023. PMID: 37973947 Free PMC article.
Author Correction: Multiparameter prediction of myeloid neoplasia risk.
Gu M, Kovilakam SC, Dunn WG, Marando L, Barcena C, Mohorianu I, Smith A, Kar SP, Fabre MA, Gerstung M, Cargo CA, Malcovati L, Quiros PM, Vassiliou GS. Gu M, et al. Among authors: fabre ma. Nat Genet. 2023 Oct;55(10):1777. doi: 10.1038/s41588-023-01532-6. Nat Genet. 2023. PMID: 37726541 Free PMC article. No abstract available.
27 results