Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. Submitted by rgarcia on Mon, 03/23/2020 - 17:02 Bogliolo M, Pujol R, Aza-Carmona M, et al. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Submitted by iguillen on Tue, 06/11/2019 - 10:26 Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet. 2015;24(14):4037-48. doi:10.1093/hmg/ddv140.
