Sylvie Odent
0000-0002-0635-5940
Publication & Citation Trends
Publications
422 total
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Cited by 0
Semantic Scholar
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Cited by 4
Semantic Scholar
#689 First report of kidney failure in PEX6-related peroxisomal disorder
Cited by 0
Semantic Scholar
The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities
Cited by 0
Semantic Scholar
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.
Cited by 11
Semantic Scholar
Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation PDF
Cited by 423
OpenAlex
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria PDF
Cited by 371
OpenAlex
Research Topics
Genomic variations and chromosomal abnormalities
(80)
Genomics and Rare Diseases
(64)
Genetics and Neurodevelopmental Disorders
(62)
Hedgehog Signaling Pathway Studies
(52)
Prenatal Screening and Diagnostics
(37)
Affiliations
Hôpital Necker-Enfants Malades
Centre National de la Recherche Scientifique
Radboud University Nijmegen
Inserm
University of Zurich