Nadège Gigot
Université de Bourgogne(FR)Laboratoire de Génétique Cellulaire(FR)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Blood disorders and treatments, Hedgehog Signaling Pathway Studies, Immunodeficiency and Autoimmune Disorders, Genetic Syndromes and Imprinting
Most-Cited Works
- → The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation(2014)145 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
- → In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome(2012)110 cited
- → Cohen syndrome is associated with major glycosylation defects(2013)97 cited
- → C5orf42 is the major gene responsible for OFD syndrome type VI(2013)89 cited
- → A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability(2015)66 cited
- → Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma(2014)55 cited
- → OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment(2012)44 cited
- → Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome(2010)40 cited