<scp><i>CNOT2</i></scp> haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizuresBéryl Royer‐Bertrand, Jean‐Marc Good, Andrea Superti‐Furga et al.|American Journal of Medical Genetics Part A|2021Cited by 3
P.378A complex movement disorder associated with myasthenic features: a novel phenotype caused by a homozygous NGLY1 mutationD. Jacquier, Andrea Klein, Jean‐Marc Good et al.|Neuromuscular Disorders|2019Cited by 0
Developmental disorder and spastic paraparesis in two sisters with a <scp><i>TCF7L2</i></scp> truncating variant inherited from a mosaic motherBéryl Royer‐Bertrand, Jean‐Marc Good, Andrea Superti‐Furga et al.|American Journal of Medical Genetics Part A|2023Cited by 0