Pascale Richard

13PUBLICATIONS
155CO-AUTHORS
Infant and child healthGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesNeonatologyCardiology (incl. cardiovascular diseases)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (13)

|Jul 07, 2026
Elamipretide in pediatric Barth syndrome: from heart failure to school return.

|Aug 12, 2025
Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

Renee Johnson, Robert A Fletcher, Stacey Peters

|Jan 23, 2025
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.

Marie Massier, Pascal de Groote, Erwan Donal

|Feb 15, 2024
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.

Flavie Ader, Guillaume Jedraszak, Alexandre Janin

|Dec 07, 2023
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

Alexis Hermida, Flavie Ader, Gilles Millat

|Oct 31, 2023
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.

Claire Perret, Carole Proust, Ulrike Esslinger

Pageof 3

Frequent Collaborators

11 joint publications

Flavie Ader

4 joint publications

Aurélien Palmyre

4 joint publications

Caroline Rooryck

3 joint publications

Alexandre Janin