Ruaud Lyse

15PUBLICATIONS
99CO-AUTHORS
Epidemiological modellingCardiology (incl. cardiovascular diseases)Neurosciences not elsewhere classifiedNutritional epidemiologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (15)

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|Jul 14, 2025
Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).

Júlia Huguet Herrero, Pauline Arnaud, Angelique Bibimbou

|Feb 29, 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.

Anna Gerasimenko, Cyril Mignot, Olivier Naggara

|Feb 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges

|Jun 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.

Alejandro Parra, Rachel Rabin, John Pappas

|Feb 21, 2023
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Deepak Khatri, Audrey Putoux, Audric Cologne

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Frequent Collaborators

6 joint publications

Alain Verloes

3 joint publications

Juliette Piard

3 joint publications

Antonio Vitobello

3 joint publications

Jonathan Lévy