Christelle Golzio
Centre National de la Recherche Scientifique(FR)Inserm(FR)Institut de génétique et de biologie moléculaire et cellulaire(FR)Centre National pour la Recherche Scientifique et Technique (CNRST)(MA)Université de Strasbourg(FR)
Publications by Year
Research Areas
Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, Genomics and Rare Diseases
Most-Cited Works
- → Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development(2014)800 cited
- → The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome(2007)489 cited
- → Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence(2009)434 cited
- → KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant(2012)430 cited
- → Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations(2009)396 cited
- → Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling(2012)391 cited