Recherche
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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
(Clinical Genetics. vol. 99, n° 5, pp. 650-661, 2021-01-07)Article de revue -
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Document de travail - Pré-publicationLibre accès -
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
(Human Mutation. vol. 43, n° 12, pp. 1882-1897, 2022-12-01)Article de revueLibre accès -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
(European Journal of Human Genetics, 2023-10-23)Article de revueLibre accès