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104 results

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Page 1
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Among authors: stavropoulos dj. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switzer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe JL, Nalpathamkalam T, Manshaei R, Ghaffari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Dlamini N, Merico D, Hilali M, Hirschfeld K, Grover K, Bautista NX, Han K, Marshall CR, Yuen RKC, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer SW. Fehlings DL, et al. Among authors: stavropoulos dj. Nat Genet. 2024 Apr;56(4):585-594. doi: 10.1038/s41588-024-01686-x. Epub 2024 Mar 29. Nat Genet. 2024. PMID: 38553553
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: stavropoulos dj. 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.
16q22.1 microdeletion and anticipatory guidance.
Abdullah S, Helal M, Dupuis L, Stavropoulos DJ, Louro P, Ramos L, Mendoza-Londono R. Abdullah S, et al. Among authors: stavropoulos dj. Am J Med Genet A. 2019 Jul;179(7):1287-1292. doi: 10.1002/ajmg.a.61155. Epub 2019 May 29. Am J Med Genet A. 2019. PMID: 31141312
1q21.1 Microduplication expression in adults.
Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS. Dolcetti A, et al. Among authors: stavropoulos dj. Genet Med. 2013 Apr;15(4):282-9. doi: 10.1038/gim.2012.129. Epub 2012 Sep 27. Genet Med. 2013. PMID: 23018752 Free PMC article. Review.
Reply to Brioude et al.
Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R. Brzezinski J, et al. Among authors: stavropoulos dj. Eur J Hum Genet. 2018 Apr;26(4):473-474. doi: 10.1038/s41431-017-0094-y. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449717 Free PMC article. No abstract available.
Recommendations for the integration of genomics into clinical practice.
Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Bowdin S, et al. Among authors: stavropoulos dj. Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Genet Med. 2016. PMID: 27171546 Free PMC article. Review.
Developmental implications of genetic testing for physical indications.
Baribeau DA, Hoang N, Selvanayagam T, Stavropoulos DJ, Costain G, Scherer SW, Vorstman J. Baribeau DA, et al. Among authors: stavropoulos dj. Eur J Hum Genet. 2022 Nov;30(11):1297-1300. doi: 10.1038/s41431-022-01181-z. Epub 2022 Sep 6. Eur J Hum Genet. 2022. PMID: 36068265 Free PMC article.
104 results