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Page 1
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E. Vincent A, et al. Among authors: macdonald h. Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2637-46. doi: 10.1167/iovs.15-18281. Invest Ophthalmol Vis Sci. 2016. PMID: 27258436 Free article.
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium; Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Vincent A, et al. Among authors: macdonald h. Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7. Am J Hum Genet. 2016. PMID: 27063057 Free PMC article.
Specific retinal phenotype in early IQCB1-related disease.
Vincent A, AlAli A, MacDonald H, VandenHoven C, Héon E. Vincent A, et al. Among authors: macdonald h. Eye (Lond). 2018 Mar;32(3):646-651. doi: 10.1038/eye.2017.283. Epub 2017 Dec 8. Eye (Lond). 2018. PMID: 29219953 Free PMC article.
Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.
Flores Pimentel M, Heath A, Wan MJ, Hussein R, Leahy KE, MacDonald H, Tavares E, VandenHoven C, MacNeill K, Kannu P, Parkin PC, Heon E, Reginald A, Vincent A. Flores Pimentel M, et al. Among authors: macdonald h. Transl Vis Sci Technol. 2022 Feb 1;11(2):10. doi: 10.1167/tvst.11.2.10. Transl Vis Sci Technol. 2022. PMID: 35119474 Free PMC article.
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: macdonald h. 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.
Psychosocial determinants for treatment decisions in familial retinoblastoma.
Soliman SE, Ulster A, MacDonald H, VandenHoven C, Toi A, Hèon E, Gallie B. Soliman SE, et al. Among authors: macdonald h. Ophthalmic Genet. 2017 Jul-Aug;38(4):392-394. doi: 10.1080/13816810.2016.1227458. Epub 2017 Jan 13. Ophthalmic Genet. 2017. PMID: 28085520 No abstract available.
Genetics and Molecular Diagnostics in Retinoblastoma--An Update.
Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL. Soliman SE, et al. Among authors: macdonald h. Asia Pac J Ophthalmol (Phila). 2017 Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711. Asia Pac J Ophthalmol (Phila). 2017. PMID: 28399338 Free article. Review.
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Stavropoulos DJ, et al. Among authors: macdonald h. NPJ Genom Med. 2016 Jan 13;1:15012-. doi: 10.1038/npjgenmed.2015.12. NPJ Genom Med. 2016. PMID: 28567303 Free PMC article.
1,073 results