M. Simon

Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

G. Bassez, Y. Péréon, Alexis Bertrand, 2018, Human mutation.

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.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

A. Munnich, M. Bitner-Glindzicz, E. Tobias, 2013, Journal of Medical Genetics.