Thomas Voït

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Yanick J. Crow, Bruce E. Hayward, Rekha Parmar et al. · Nature Genetics · 2006 · 876 citations

Ags1 Locus, Mendelian Disorder, Genetic Disorder +11

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher et al. · The American Journal of Human Genetics · 2002 · 684 citations · Full text

Molecular Neuroscience, Developmental Biology, Mendelian Disorder +8

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 666 citations

Ribonuclease H2, Viral Evolution, Genetic Disorder +10

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli et al. · The Lancet · 2017 · 446 citations · Full text

Rare Diseases, Urology, Clinical Trials +5

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8