Cecile Courdier
Bordeaux, France
Last Updated: 09/26/2026
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Found 9 publications
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.
Journal: American journal of human genetics
Published: February 06, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.
Journal: HGG advances
Published: November 26, 2025
The phenotypic spectrum of CEP250 gene variants.
Journal: Ophthalmic genetics
Published: November 29, 2024
A patient with TPCN2-related hypopigmentation and ocular phenotype.
Journal: European journal of human genetics : EJHG
Published: October 12, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
Journal: International journal of molecular sciences
Published: July 02, 2024
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: December 13, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Journal: American journal of human genetics
Published: December 14, 2022
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Journal: Prenatal diagnosis
Published: December 14, 2022
The different clinical facets of SYN1-related neurodevelopmental disorders.
Journal: Frontiers in cell and developmental biology
Published: August 15, 2022
Showing 1-9 of 9
Last Updated: 09/26/2026