Caroline Rooryck

19PUBLICATIONS
185CO-AUTHORS
Respiratory diseasesGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)
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Publications (19)

|Nov 12, 2025
Exploring <i>RBFOX2</i> Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.

Clément Sauvestre, Amel Bouchatal, Claire Beneteau

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

Renee Johnson, Robert A Fletcher, Stacey Peters

|Jun 06, 2025
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot.

Camille Bergès, Fanny Laffargue, Claire Dauphin

|Apr 04, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Christel Thauvin-Robinet, Aurore Garde, Maud Favier

|Mar 25, 2025
Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.

Angèle Sequeira, Thomas Sagardoy, Laetitia Bourgeade

|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

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Frequent Collaborators

6 joint publications

Angèle Tingaud-Sequeira

5 joint publications

Flavie Ader

4 joint publications

Pascale Richard

3 joint publications

Aurélien Trimouille