Majida Charif

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Molecular Neuroscience, Mendelian Disorder, Biallelic Variants +11

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

S. Gerber, Majida Charif, Arnaud Chevrollier et al. · Brain · 2017 · 119 citations · Full text

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Claire Angebault, Pierre‐Olivier Guichet, Yasmina Talmat-Amar et al. · The American Journal of Human Genetics · 2015 · 72 citations · Full text

Rtn4ip1 Cause Isolated, Mendelian Disorder, Genetic Disorder +7

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé et al. · Journal of Clinical Investigation · 2019 · 64 citations · Full text

Genetics, Dominant Optic Atrophy, Molecular Biology +17

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Jing Zhang, Tomasz Gambin, Bo Yuan et al. · Human Genetics · 2017 · 62 citations · Full text

Neurodevelopmental Disorders, Intellectual Impairment, Developmental Biology +10