Patricia Fergelot
Bordeaux, 33000, France
Last Updated: 09/26/2026
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Found 55 publications
Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis.
Journal: International journal of molecular sciences
Published: July 09, 2026
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
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.
Journal: European journal of human genetics : EJHG
Published: February 02, 2026
STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 18, 2025
FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations.
Journal: Journal of medical genetics
Published: August 21, 2024
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.
Journal: European journal of pain (London, England)
Published: March 12, 2024
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
Journal: Nature communications
Published: September 28, 2023
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Journal: Journal of medical genetics
Published: June 01, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Journal: European journal of human genetics : EJHG
Published: May 10, 2023
Last Updated: 09/26/2026