Nadège Gigot

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

The <i>DYRK1A</i> gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Jean‐Benoît Courcet, Laurence Faivre, Perrine Malzac et al. · Journal of Medical Genetics · 2012 · 123 citations

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac, Julien Thevenon, Lesley C. Adès et al. · The American Journal of Human Genetics · 2012 · 110 citations · Full text

Developmental Anomaly, In-frame Mutations, Mendelian Disorder +6

Cohen syndrome is associated with major glycosylation defects

Laurence Duplomb, Sandrine Duvet, Damien Picot et al. · Human Molecular Genetics · 2013 · 96 citations · Full text

Glycobiology, Molecular Biology, Pathology +24

C5orf42 is the major gene responsible for OFD syndrome type VI

Estelle Lopez, Christel Thauvin‐Robinet, Bruno Reversade et al. · Human Genetics · 2013 · 87 citations

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +12