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

Year Number of Results
2000 1
2002 4
2003 1
2004 3
2005 2
2006 2
2007 1
2009 6
2010 13
2011 11
2012 6
2013 17
2014 16
2015 8
2016 11
2017 16
2018 14
2019 16
2020 20
2021 35
2022 32
2023 21
2024 4

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220 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. Among authors: williamson c. 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.
Pregnancy-Associated Liver Diseases.
Terrault NA, Williamson C. Terrault NA, et al. Among authors: williamson c. Gastroenterology. 2022 Jul;163(1):97-117.e1. doi: 10.1053/j.gastro.2022.01.060. Epub 2022 Mar 8. Gastroenterology. 2022. PMID: 35276220 Review.
Intrahepatic cholestasis of pregnancy.
Williamson C, Geenes V. Williamson C, et al. Obstet Gynecol. 2014 Jul;124(1):120-133. doi: 10.1097/AOG.0000000000000346. Obstet Gynecol. 2014. PMID: 24901263 Review.
Gestational diabetes: opportunities for improving maternal and child health.
Saravanan P; Diabetes in Pregnancy Working Group; Maternal Medicine Clinical Study Group; Royal College of Obstetricians and Gynaecologists, UK. Saravanan P, et al. Lancet Diabetes Endocrinol. 2020 Sep;8(9):793-800. doi: 10.1016/S2213-8587(20)30161-3. Epub 2020 Aug 18. Lancet Diabetes Endocrinol. 2020. PMID: 32822601 Review.
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.
Reply.
Williamson C, Terrault N. Williamson C, et al. Gastroenterology. 2023 Feb;164(2):311-312. doi: 10.1053/j.gastro.2022.09.026. Epub 2022 Sep 29. Gastroenterology. 2023. PMID: 36181836 No abstract available.
EASL Clinical Practice Guidelines on the management of liver diseases in pregnancy.
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver. European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu, et al. J Hepatol. 2023 Sep;79(3):768-828. doi: 10.1016/j.jhep.2023.03.006. Epub 2023 Jun 30. J Hepatol. 2023. PMID: 37394016
220 results