Roselyne Gesny

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

E. Génin, F. Denoyelle, J. Bonnefont, 2018, Clinical genetics.

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

A. Munnich, F. Reyal, J. Steffann, 2021, Journal of inherited metabolic disease.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

C. Fallet-Bianco, Y. Ville, B. Gilbert-Dussardier, 2012, Journal of Medical Genetics.

New case of interstitial deletion 12(q15‐q21.2) in a girl with facial dysmorphism and mental retardation

R. Redon, A. Munnich, S. Lyonnet, 2008, American journal of medical genetics. Part A.