Cedric Le Caignec

Toulouse, 31300, France

Last Updated: 09/26/2026

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Found 104 publications

Genetic medicine illustrated by three key syndromes

Genetic medicine illustrated by three key syndromes

Journal: Revue medicale suisse

Published: July 02, 2026

High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations

High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations

Journal: Revue medicale suisse

Published: July 02, 2026

Title Not Found

Title Not Found

Journal: Revue medicale suisse

Published: July 02, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Journal: Human molecular genetics

Published: November 07, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics

Published: January 23, 2025

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Arrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia.

Arrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia.

Journal: JACC. Clinical electrophysiology

Published: August 26, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Journal: American journal of medical genetics. Part A

Published: July 22, 2023

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Journal: medRxiv : the preprint server for health sciences

Published: June 09, 2023

Showing 1-12 of 104

Last Updated: 09/26/2026