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

Year Number of Results
2015 10
2016 172
2017 747
2018 1324
2019 1255
2020 129
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3,133 results
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Page 1
Promises, pitfalls and practicalities of prenatal whole exome sequencing.
Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS. Best S, et al. Prenat Diagn. 2018 Jan;38(1):10-19. doi: 10.1002/pd.5102. Epub 2017 Jul 25. Prenat Diagn. 2018. PMID: 28654730 Free PMC article. Review.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
[Exome sequencing for syndrome diagnostics].
Østergaard E, Risom L, Ek J, Grønborg S, Dunø M, Skovby F. Østergaard E, et al. Ugeskr Laeger. 2017 Apr 24;179(17):V10160762. Ugeskr Laeger. 2017. PMID: 28473029 Review. Danish.
Whole Exome Sequencing: Applications in Prenatal Genetics.
Jelin AC, Vora N. Jelin AC, et al. Obstet Gynecol Clin North Am. 2018 Mar;45(1):69-81. doi: 10.1016/j.ogc.2017.10.003. Obstet Gynecol Clin North Am. 2018. PMID: 29428287 Free PMC article. Review.
The Third Revolution in Sequencing Technology.
van Dijk EL, Jaszczyszyn Y, Naquin D, Thermes C. van Dijk EL, et al. Trends Genet. 2018 Sep;34(9):666-681. doi: 10.1016/j.tig.2018.05.008. Epub 2018 Jun 22. Trends Genet. 2018. PMID: 29941292 Review.
Whole exome sequencing in recurrent early pregnancy loss.
Qiao Y, Wen J, Tang F, Martell S, Shomer N, Leung PC, Stephenson MD, Rajcan-Separovic E. Qiao Y, et al. Mol Hum Reprod. 2016 May;22(5):364-72. doi: 10.1093/molehr/gaw008. Epub 2016 Jan 28. Mol Hum Reprod. 2016. PMID: 26826164 Free PMC article.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Lord J, et al. Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712880 Free PMC article. Clinical Trial.
3,133 results
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