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European Journal of Medical Genetics|July 5, 2022
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C geneJuliette Coursimault, Alice Goldenberg, Gaël Nicolas, et al.
European Journal of Medical Genetics|February 11, 2021
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutationsJuliette Coursimault, François Lecoquierre, Pascale Saugier-Veber, et al.
Pigment Cell & Melanoma Research|August 31, 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinismVincent Michaud, Angèle Sequeira, Elina Mercier, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature reviewMalek Bouassida, Matthieu Egloff, Jonathan Levy, et al.
Human Mutation|April 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndromeJuliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, et al.
Human Mutation|July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsJuliette Coursimault, Kévin Cassinari, François Lecoquierre, et al.
Orphanet Journal of Rare Diseases|July 21, 2026
Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnairesJuliette Coursimault, Emilie Guillon, François Lecoquierre, et al.
JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.
Human Genetics|November 8, 2021
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspectsJuliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, et al.
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