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Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease.
Rose-Zerilli MJ, Gibson J, Wang J, Tapper W, Davis Z, Parker H, Larrayoz M, McCarthy H, Walewska R, Forster J, Gardiner A, Steele AJ, Chelala C, Ennis S, Collins A, Oakes CC, Oscier DG, Strefford JC. Rose-Zerilli MJ, et al. Among authors: collins a. Leukemia. 2016 Jun;30(6):1301-10. doi: 10.1038/leu.2016.10. Epub 2016 Feb 5. Leukemia. 2016. PMID: 26847028 Free PMC article.
Non-coding NOTCH1 mutations in chronic lymphocytic leukemia; their clinical impact in the UK CLL4 trial.
Larrayoz M, Rose-Zerilli MJ, Kadalayil L, Parker H, Blakemore S, Forster J, Davis Z, Steele AJ, Collins A, Else M, Catovsky D, Oscier DG, Strefford JC. Larrayoz M, et al. Among authors: collins a. Leukemia. 2017 Feb;31(2):510-514. doi: 10.1038/leu.2016.298. Epub 2016 Oct 26. Leukemia. 2017. PMID: 27773930 Free PMC article. Clinical Trial. No abstract available.
Telomere length predicts progression and overall survival in chronic lymphocytic leukemia: data from the UK LRF CLL4 trial.
Strefford JC, Kadalayil L, Forster J, Rose-Zerilli MJ, Parker A, Lin TT, Heppel N, Norris K, Gardiner A, Davies Z, Gonzalez de Castro D, Else M, Steele AJ, Parker H, Stankovic T, Pepper C, Fegan C, Baird D, Collins A, Catovsky D, Oscier DG. Strefford JC, et al. Among authors: collins a. Leukemia. 2015 Dec;29(12):2411-4. doi: 10.1038/leu.2015.217. Epub 2015 Aug 10. Leukemia. 2015. PMID: 26256637 Free PMC article. No abstract available.
Genetic mechanisms of critical illness in COVID-19.
Pairo-Castineira E, Clohisey S, Klaric L, Bretherick AD, Rawlik K, Pasko D, Walker S, Parkinson N, Fourman MH, Russell CD, Furniss J, Richmond A, Gountouna E, Wrobel N, Harrison D, Wang B, Wu Y, Meynert A, Griffiths F, Oosthuyzen W, Kousathanas A, Moutsianas L, Yang Z, Zhai R, Zheng C, Grimes G, Beale R, Millar J, Shih B, Keating S, Zechner M, Haley C, Porteous DJ, Hayward C, Yang J, Knight J, Summers C, Shankar-Hari M, Klenerman P, Turtle L, Ho A, Moore SC, Hinds C, Horby P, Nichol A, Maslove D, Ling L, McAuley D, Montgomery H, Walsh T, Pereira AC, Renieri A; GenOMICC Investigators; ISARIC4C Investigators; COVID-19 Human Genetics Initiative; 23andMe Investigators; BRACOVID Investigators; Gen-COVID Investigators; Shen X, Ponting CP, Fawkes A, Tenesa A, Caulfield M, Scott R, Rowan K, Murphy L, Openshaw PJM, Semple MG, Law A, Vitart V, Wilson JF, Baillie JK. Pairo-Castineira E, et al. Nature. 2021 Mar;591(7848):92-98. doi: 10.1038/s41586-020-03065-y. Epub 2020 Dec 11. Nature. 2021. PMID: 33307546 Free article.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: collins a. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.
Integration of gene maps: chromosome 1.
Collins A, Keats BJ, Dracopoli N, Shields DC, Morton NE. Collins A, et al. Proc Natl Acad Sci U S A. 1992 May 15;89(10):4598-602. doi: 10.1073/pnas.89.10.4598. Proc Natl Acad Sci U S A. 1992. PMID: 1584796 Free PMC article.
3,685 results