Christel Thauvin‐Robinet
Hôpital d'Enfants(FR)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Hedgehog Signaling Pathway Studies, Fetal and Pediatric Neurological Disorders, Renal and related cancers, Blood disorders and treatments
Most-Cited Works
- → Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test(2016)267 cited
- → OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin(2009)208 cited
- → PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy(2013)202 cited
- → The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery(2016)172 cited
- → The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation(2014)145 cited
- → TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome(2015)139 cited
- → MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone(2016)135 cited
- → Erratum: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery(2016)124 cited
- → The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy(2012)123 cited
- → Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes(2017)120 cited