Luís Alexandre Rassi Gabriel

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Pei-Wen Chiang, Juan Wang, Yang Chen et al. · Nature Genetics · 2012 · 142 citations

Life Sciences, Genetics, Molecular Genetics +8

ADAMTSL4, a Secreted Glycoprotein Widely Distributed in the Eye, Binds Fibrillin-1 Microfibrils and Accelerates Microfibril Biogenesis

Luís Alexandre Rassi Gabriel, Lauren W. Wang, Hannah L. Bader et al. · Investigative Ophthalmology & Visual Science · 2011 · 114 citations · Full text

Medicine, Molecular Biology, Ophthalmology +13

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

Pooja Biswas, Jacque L. Duncan, Bruno Maranhao et al. · Physiological Genomics · 2017 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis

Pooja Biswas, Adda Villanueva, Angel Soto‐Hermida et al. · PLoS Genetics · 2021 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Oculodentodigital Dysplasia

Luís Alexandre Rassi Gabriel · Archives of Ophthalmology · 2011 · 31 citations

Medicine, Molecular Genetics, Ophthalmology +17