E. Lejeune

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

S. Mundlos, M. Spielmann, T. Strom, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

C. Depienne, A. Toutain, C. Rooryck, 2017, Jornal de Pediatria.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

C. Garel, A. Benachi, C. Bénéteau, 2020, Genetics in Medicine.