CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and LimitationsBéryl Royer‐Bertrand, Andrea Superti‐Furga, Katarina Cisarova et al.|Genes|2021Cited by 57
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literatureFilipa Bastos, Sébastien Lebon, Béryl Royer‐Bertrand et al.|BMC Neurology|2020Cited by 22
A New Neurodegenerative Disease of ChildhoodFernando Bastos, Sébastien Lebon, M. C. Addor et al.|Neuropediatrics|2018Cited 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