Bertrand Isidor

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Pierre Lindenbaum, Christian Dina, Laurence Faivre, 2011, Nature Genetics.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

Novel KCNB1 mutation associated with non-syndromic intellectual disability

Naomichi Matsumoto, Stéphane Bézieau, N. Matsumoto, 2016, Journal of Human Genetics.

Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome

Albert David, C. Bénéteau, S. Barbarot, 2011, American journal of medical genetics. Part A.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.