Christel Thauvin‐Robinet

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 265 citations

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L. M. Coene, Ronald Roepman, Dan Doherty et al. · The American Journal of Human Genetics · 2009 · 207 citations · Full text

X-linked Joubert Syndrome, Mendelian Disorder, Genetic Disorder +9

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb et al. · The American Journal of Human Genetics · 2013 · 199 citations · Full text

Metabolic Syndrome, Genetics, Diabetes +3

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

Michinori Toriyama, Chanjae Lee, S. Paige Taylor et al. · Nature Genetics · 2016 · 170 citations · Full text

Signal Transduction, Intraflagellar Transport Machinery, Intracellular Transport +13

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Christel Thauvin‐Robinet, Jaclyn S Lee, Estelle Lopez et al. · Nature Genetics · 2014 · 145 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +11