Flavien Rouxel
Montpellier, France
Last Updated: 09/26/2026
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Found 10 publications
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.
Journal: European journal of human genetics : EJHG
Published: September 19, 2025
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Journal: Scientific reports
Published: December 20, 2023
Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Journal: European journal of human genetics : EJHG
Published: December 08, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Journal: Journal of medical genetics
Published: November 14, 2022
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Journal: European journal of human genetics : EJHG
Published: September 30, 2022
Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract.
Journal: Heliyon
Published: April 29, 2022
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 22, 2021
DNA methylation episignature in Gabriele-de Vries syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 08, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Journal: European journal of human genetics : EJHG
Published: April 01, 2021
Showing 1-10 of 10
Last Updated: 09/26/2026