Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
Cell & Bioscience
Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Human Mutation
Simeonov, Dimitre R DR; Wang, Xinjing X; Wang, Chen C; Sergeev, Yuri Y; Dolinska, Monika M; Bower, Matthew M; Fischer, Roxanne R; Winer, David D; Dubrovsky, Genia G; Balog, Joan Z JZ; Huizing, Marjan M; Hart, Rachel R; Zein, Wadih M WM; Gahl, William A WA; Brooks, Brian P BP; Adams, David R DR