J. Coursimault

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review

F. Brancati, L. Bernardini, F. Vialard, 2023, European Journal of Human Genetics.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

N. Drouot, A. Boland, D. Lacombe, 2022, Human mutation.

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

V. Drouin‐Garraud, A. Boland, T. Frebourg, 2021, European journal of medical genetics.

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

N. Drouot, O. Quenez, K. Cassinari, 2022, Human mutation.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

C. V. van Ravenswaaij-Arts, T. Frebourg, S. Coutant, 2020, Human mutation.

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

S. Coutant, F. Lecoquierre, B. Sadikovic, 2022, European journal of medical genetics.