Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Muscle Physiology and Disorders, and Neurogenetic and Muscular Disorders Research.
Mutation in noncoding <scp>RNA RNU12</scp> causes early onset cerebellar ataxia
Annals of Neurology2016cited by 94position: lastdoi
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band‐like calcification and polymicrogyria that extends the phenotypic spectrum
American Journal of Medical Genetics Part A2014cited by 19position: lastdoi