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Genetic testing and diagnosis of inherited retinal diseases.
Lam BL, Leroy BP, Black G, Ong T, Yoon D, Trzupek K. Lam BL, et al. Among authors: black g. Orphanet J Rare Dis. 2021 Dec 14;16(1):514. doi: 10.1186/s13023-021-02145-0. Orphanet J Rare Dis. 2021. PMID: 34906171 Free PMC article. Review.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. Black GC, et al. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. Orphanet J Rare Dis. 2021. PMID: 33743793 Free PMC article.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium; Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. El-Asrag ME, et al. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983245 Free PMC article.
Understanding the impact of genetic testing for inherited retinal dystrophy.
Combs R, McAllister M, Payne K, Lowndes J, Devery S, Webster AR, Downes SM, Moore AT, Ramsden S, Black G, Hall G. Combs R, et al. Among authors: black g. Eur J Hum Genet. 2013 Nov;21(11):1209-13. doi: 10.1038/ejhg.2013.19. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403902 Free PMC article.
Personalized ophthalmology.
Porter LF, Black GC. Porter LF, et al. Among authors: black gc. Clin Genet. 2014 Jul;86(1):1-11. doi: 10.1111/cge.12389. Clin Genet. 2014. PMID: 24665880 Free PMC article. Review.
797 results