Clément Sauvestre

4PUBLICATIONS
111CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Respiratory diseasesNeurology and neuromuscular diseasesCraniofacial biology
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Publications (4)

|Jun 06, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

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

Clément Sauvestre, Amel Bouchatal, Claire Beneteau

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Oct 11, 2024
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.

Clément Sauvestre, Marie-José Boileau, Camille Caule

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Frequent Collaborators

3 joint publications

Vincent Michaud

2 joint publications

Tobias Haack

2 joint publications

Yoann Vial

2 joint publications

Mélanie Fradin