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

Year Number of Results
1983 1
1984 3
1985 3
1986 3
1987 5
1988 5
1989 1
1990 1
1992 1
1993 2
1994 2
1995 3
1996 4
1997 2
1998 5
2000 2
2001 3
2002 4
2003 1
2004 9
2005 10
2006 6
2007 6
2008 5
2009 7
2010 6
2011 3
2012 4
2013 2
2014 6
2015 6
2016 13
2017 9
2018 9
2019 5
2020 8
2021 8
2022 7
2023 10
2024 5

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174 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.
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.
Osteohematology: To be or Notch to be.
Rothzerg E, Erber WN, Gibbons CLMH, Wood D, Xu J. Rothzerg E, et al. Among authors: erber wn. J Cell Physiol. 2023 Jul;238(7):1478-1491. doi: 10.1002/jcp.31042. Epub 2023 Jun 3. J Cell Physiol. 2023. PMID: 37269472 Review.
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR, Futreal PA, Erber WN, McMullin MF, Harrison CN, Warren AJ, Gilliland DG, Lodish HF, Green AR. Scott LM, et al. Among authors: erber wn. N Engl J Med. 2007 Feb 1;356(5):459-68. doi: 10.1056/NEJMoa065202. N Engl J Med. 2007. PMID: 17267906 Free PMC article.
Morphology of myeloproliferative neoplasms.
Ng ZY, Fuller KA, Mazza-Parton A, Erber WN. Ng ZY, et al. Among authors: erber wn. Int J Lab Hematol. 2023 Jun;45 Suppl 2:59-70. doi: 10.1111/ijlh.14086. Epub 2023 May 21. Int J Lab Hematol. 2023. PMID: 37211431 Review.
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR; Cancer Genome Project. Baxter EJ, et al. Among authors: erber wn. Lancet. 2005 Mar 19-25;365(9464):1054-61. doi: 10.1016/S0140-6736(05)71142-9. Lancet. 2005. PMID: 15781101
Chromosomal defects in multiple myeloma.
Clarke SE, Fuller KA, Erber WN. Clarke SE, et al. Among authors: erber wn. Blood Rev. 2024 Mar;64:101168. doi: 10.1016/j.blre.2024.101168. Epub 2024 Jan 4. Blood Rev. 2024. PMID: 38212176 Free article. Review.
174 results