F. Jobic

New intragenic rearrangements in non‐Finnish mulibrey nanism

C. Vincent‐Delorme, J. Rochette, M. Mathieu-Dramard, 2017, American journal of medical genetics. Part A.

Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation

A. Piton, M. Mathieu-Dramard, A. Le Moing, 2021, American journal of medical genetics. Part A.

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

H. Dollfus, D. Schorderet, M. Todorova, 2022, International journal of molecular sciences.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

S. Julia, C. Rooryck, F. Vialard, 2023, Prenatal diagnosis.

Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature.

G. Cottin, M. Tir, E. Diab, 2022, European journal of medical genetics.