Tom Sante

Gene Editing for CEP290 -Associated Retinal Degeneration

Mitochondria at the crossroads of health and disease

Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2)

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy