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Year Number of Results
1998 1
2000 4
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2002 4
2004 1
2010 2
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2013 4
2014 4
2015 6
2016 5
2017 6
2018 6
2019 2
2020 4
2021 3
2022 5
2023 2
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60 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Retinal vein occlusion (RVO) guideline: executive summary.
Nicholson L, Talks SJ, Amoaku W, Talks K, Sivaprasad S. Nicholson L, et al. Among authors: talks k. Eye (Lond). 2022 May;36(5):909-912. doi: 10.1038/s41433-022-02007-4. Epub 2022 Mar 17. Eye (Lond). 2022. PMID: 35301458 Free PMC article. No abstract available.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
Real-world use of thrombopoietin receptor agonists for the management of immune thrombocytopenia in adult patients in the United Kingdom: Results from the TRAIT study.
Cooper N, Scully M, Percy C, Nicolson PLR, Lowe G, Bagot CN, Thachil J, Grech H, Nokes T, Hill QA, Bradbury C, Talks K, Dutt T, Evans G, Pavord S, Wexler S, Charania A, Collington SJ, Ervin A, Ramscar N, Provan D. Cooper N, et al. Among authors: talks k. Br J Haematol. 2024 Jun;204(6):2442-2452. doi: 10.1111/bjh.19345. Epub 2024 Mar 1. Br J Haematol. 2024. PMID: 38429869 Free article.
Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B.
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, Dolan G, Reiss U, Phillips M, Riddell A, Peralta MR, Quaye M, Patch DW, Tuddenham E, Dane A, Watissée M, Long A, Nathwani A. Chowdary P, et al. Among authors: talks k. N Engl J Med. 2022 Jul 21;387(3):237-247. doi: 10.1056/NEJMoa2119913. N Engl J Med. 2022. PMID: 35857660 Free article. Clinical Trial.
Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand Disease.
Skinner MW, Albisetti M, Ardila J, Astermark J, Blatny J, Carcao M, Chowdary P, Connell NT, Crato M, Dargaud Y, d'Oiron R, Dunn AL, Escobar MA, Escuriola-Ettingshausen C, Gouider E, Harroche A, Hermans C, Jimenez-Yuste V, Kaczmarek R, Kenet G, Khoo L, Klamroth R, Langer F, Lillicrap D, Mahlangu J, Male C, Matsushita T, Meunier S, Miesbach W, Nolan B, Oldenburg J, O'Mahony B, Ozelo M, Pierce GF, Ramos G, Recht M, Romero-Lux O, Rotellini D, Santoro RC, Singleton TC, Srivastava A, Susen S, Talks K, Tran H, Valentino LA, Windyga J, Yang R, Mancuso ME; also on behalf of AICEAHAD‐APAHCDCATHNCLAHTEHCFrench CRH & MHEMOHTCCNCNBDFPEDNETUKHCDOWFH. Skinner MW, et al. Among authors: talks k. Haemophilia. 2024 Dec 9. doi: 10.1111/hae.15136. Online ahead of print. Haemophilia. 2024. PMID: 39648854
International Society on Thrombosis and Haemostasis Clinical Practice Guideline for Treatment of Congenital Haemophilia-A Critical Appraisal.
Albisetti M, Ardila J, Astermark J, Blatny J, Carcao M, Chowdary P, Connell NT, Crato M, Dargaud Y, d'Oiron R, Dunn AL, Escobar MA, Ettingshausen CE, Fischer K, Gouider E, Harroche A, Hermans C, Jimenez-Yuste V, Kaczmarek R, Kenet G, Khoo L, Klamroth R, Langer F, Lillicrap D, Mahlangu J, Male C, Mancuso ME, Matsushita T, Meunier S, Miesbach W, Nolan B, Oldenburg J, O'Mahony B, Ozelo M, Pierce GF, Ramos G, Recht M, Romero-Lux O, Rotellini D, Santoro RC, Singleton TC, Skinner MW, Srivastava A, Susen S, Talks K, Tran H, Valentino LA, Windyga J, Yang R; also on behalf of AICE, AHAD‐AP, AHCDC, ATHN, CLAHT, EHC, French CRH & MHEMO, GTH, HTCCNC, NBDF, PEDNET, UKHCDO, WFH. Albisetti M, et al. Among authors: talks k. Haemophilia. 2024 Dec 6. doi: 10.1111/hae.15135. Online ahead of print. Haemophilia. 2024. PMID: 39642092
Inhibitor development according to concentrate after 50 exposure days in severe hemophilia: data from the European HAemophilia Safety Surveillance (EUHASS).
Fischer K, Lassila R, Peyvandi F, Gatt A, Gouw SC, Hollingsworth R, Lambert T, Kaczmarek R, Carbonero D, Makris M; European HAemophilia Safety Surveillance (EUHASS) participants. Fischer K, et al. Res Pract Thromb Haemost. 2024 May 27;8(4):102461. doi: 10.1016/j.rpth.2024.102461. eCollection 2024 May. Res Pract Thromb Haemost. 2024. PMID: 39026659 Free PMC article.
60 results