Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 1
2019 1
2020 2
2021 7
2022 3
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

13 results

Results by year

Filters applied: . Clear all
Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: hyder z. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Pagnamenta AT, Jackson A, Perveen R, Beaman G, Petts G, Gupta A, Hyder Z, Chung BH, Kan AS, Cheung KW, Kerstjens-Frederikse WS, Abbott KM; Genomics England Research Consortium; Elpeleg O, Taylor JC, Banka S, Ta-Shma A. Pagnamenta AT, et al. Among authors: hyder z. Clin Genet. 2022 Jan;101(1):127-133. doi: 10.1111/cge.14071. Epub 2021 Oct 11. Clin Genet. 2022. PMID: 34612517
Survival from breast cancer in women with a BRCA2 mutation by treatment.
Evans DG, Phillips KA, Milne RL, Fruscio R, Cybulski C, Gronwald J, Lubinski J, Huzarski T, Hyder Z, Forde C, Metcalfe K, Senter L, Weitzel J, Tung N, Zakalik D, Ekholm M, Sun P, Narod SA; kConFab Investigators, Polish Hereditary Breast Cancer Consortium, Hereditary Breast Cancer Clinical Study Group. Evans DG, et al. Among authors: hyder z. Br J Cancer. 2021 Apr;124(9):1524-1532. doi: 10.1038/s41416-020-01164-1. Epub 2021 Feb 18. Br J Cancer. 2021. PMID: 33597716 Free PMC article.
Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment.
Evans DG, Phillips KA, Milne RL, Fruscio R, Cybulski C, Gronwald J, Lubinski J, Huzarski T, Hyder Z, Forde C, Metcalfe K, Senter L, Weitzel J, Tung N, Zakalik D, Ekholm M, Sun P, Narod SA; kConFab Investigators, Polish Hereditary Breast Cancer Consortium, Hereditary Breast Cancer Clinical Study Group. Evans DG, et al. Among authors: hyder z. Br J Cancer. 2023 Feb;128(4):703. doi: 10.1038/s41416-022-02130-9. Br J Cancer. 2023. PMID: 36639528 Free PMC article. No abstract available.
Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation.
Xia YY, Gronwald J, Karlan B, Lubinski J, McCuaig JM, Brooks J, Moller P, Eisen A, Sun S, Senter L, Bordeleau L, Neuhausen SL, Singer CF, Tung N, Foulkes WD, Sun P, Narod SA, Kotsopoulos J; Hereditary Ovarian Cancer Clinical Study Group. Xia YY, et al. Gynecol Oncol. 2022 Mar;164(3):514-521. doi: 10.1016/j.ygyno.2022.01.014. Epub 2022 Jan 19. Gynecol Oncol. 2022. PMID: 35063280
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z, Calpena E, Pei Y, Tooze RS, Brittain H, Twigg SRF, Cilliers D, Morton JEV, McCann E, Weber A, Wilson LC, Douglas AGL, McGowan R, Need A, Bond A, Tavares ALT, Thomas ERA; Genomics England Research Consortium; Hill SL, Deans ZC, Boardman-Pretty F, Caulfield M, Scott RH, Wilkie AOM. Hyder Z, et al. Genet Med. 2021 Dec;23(12):2360-2368. doi: 10.1038/s41436-021-01297-5. Epub 2021 Aug 25. Genet Med. 2021. PMID: 34429528 Free PMC article.
13 results