Caroline Rooryck

20PUBLICATIONS
214CO-AUTHORS
NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Foetal development and medicineDevelopmental genetics (incl. sex determination)
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Publications (20)

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|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 08, 2025
FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations.

Henri Margot, Natalia Hernandez Poblete, Chloé Angelini

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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