Ruaud Lyse

15PUBLICATIONS
99CO-AUTHORS
Epidemiological modellingCardiology (incl. cardiovascular diseases)Forensic epidemiologyNeurosciences not elsewhere classifiedNutritional epidemiology
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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 <i>ADAMTS6</i> : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).

Júlia Huguet Herrero, Pauline Arnaud, Angelique Bibimbou

|Apr 02, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges

|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 <i>SETD2</i> Variants: 18 New Patients and Review of the Literature.

Alejandro Parra, Rachel Rabin, John Pappas

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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