Marie‐Laure Moutard

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

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

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

Karine Poirier, David A. Keays, Fiona Francis et al. · Human Mutation · 2007 · 230 citations

Congenital cerebral malformations and dysfunction in fetuses and newborns following the 2013 to 2014 Zika virus epidemic in French Polynesia

Marianne Besnard, Dominique Eyrolle‐Guignot, Prisca Guillemette-Artur et al. · Eurosurveillance · 2016 · 217 citations · Full text

Pediatric Hydrocephalus, Neurological Disorder, Arbovirus +17

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Martin W. Breuss, Julian Ik‐Tsen Heng, Karine Poirier et al. · Cell Reports · 2012 · 199 citations · Full text

Brain Development, Cytoskeleton, Structural Brain Abnormalities +19