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Velo-facio-skeletal syndrome in a mother and daughter.
Teebi AS, Qumsiyeh MB, Meyers-Seifer CH, Meyn MS. Teebi AS, et al. Among authors: meyn ms. Am J Med Genet. 1995 Jul 31;58(1):8-12. doi: 10.1002/ajmg.1320580103. Am J Med Genet. 1995. PMID: 7573161
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. Among authors: meyn ms. 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.
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Walker S, Lamoureux S, Khan T, Joynt ACM, Bradley M, Branson HM, Carter MT, Hayeems RZ, Jagiello L, Marshall CR, Meyn MS, Miller SP, Wilson D, Scherer SW, Blaser S, Mireskandari K, Costain G. Walker S, et al. Among authors: meyn ms. Am J Med Genet A. 2021 Oct;185(10):3129-3135. doi: 10.1002/ajmg.a.62389. Epub 2021 Jun 22. Am J Med Genet A. 2021. PMID: 34159711
Evidence for genetic anticipation in vonHippel-Lindau syndrome.
Aronoff L, Malkin D, van Engelen K, Gallinger B, Wasserman J, Kim RH, Villani A, Meyn MS, Druker H. Aronoff L, et al. Among authors: meyn ms. J Med Genet. 2018 Jun;55(6):395-402. doi: 10.1136/jmedgenet-2017-104882. Epub 2018 Feb 7. J Med Genet. 2018. PMID: 29437867
82 results