Annick Toutain

Twenty‐five novel mutations including duplications in the ATP7A gene

S. Blesson, C. Moraine, E. Bieth, 2011, Clinical genetics.

RELN and VLDLR mutations underlie two distinguishable clinico‐radiological phenotypes

C. Garel, A. Toutain, D. Rodriguez, 2016, Clinical genetics.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

C. Cytrynbaum, C. Marshall, A. Noor, 2015, Clinical genetics.

Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

A. Rötig, A. Toutain, L. Vaillant, 2000, The British journal of dermatology.

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

B. Lambolez, G. Stevanin, A. Toutain, 2022, medRxiv.