GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations European Journal of Human Genetics July 2025;33(7):860-869
Date
07/01/2025DOI
10.1038/s41431-025-01843-8Scopus ID
2-s2.0-105003803205 (requires institutional sign-in at Scopus site) 5 CitationsAuthor List
Merepa SS, Reis LM, Damián A, Bardakjian T, Schneider A, Trujillo-Tiebas MJ, Ayuso C, Galarza LC, Saez Villaverde R, Ortiz-Cabrera NV, Bax DA, Holt R, Ceroni F, Edery P, Grelet M, Riccardi F, Maillard L, Costakos D, Plaisancié J, Chassaing N, Corton M, Semina EV, Ragge NKAuthors
Deborah M. Costakos BS, MS, MD Dean, Professor in the School of Medicine Operations department at Medical College of WisconsinElena V. Semina PhD Chief, Professor in the Ophthalmology department at Medical College of Wisconsin
