Pascale Richard

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

|Jan 17, 2025
<i>RBM20</i> Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.

Alexis Hermida, Flavie Ader, Gilles Millat

|Jul 29, 2024
Prediction of Positive Genetic Testing for Arrhythmogenic Left Ventricular Cardiomyopathy.

Youssef Ed Demri, Clarisse Billon, Mohamed El Hachmi

|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

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Frequent Collaborators

11 joint publications

Flavie Ader

4 joint publications

Aurélien Palmyre

4 joint publications

Caroline Rooryck

3 joint publications

Alexandre Janin