Research interests include Arthrogryposis multiplex congenita, Arthrogryposis, Frameshift mutation, Hypotonia, Spinal muscular atrophy, and Microcephaly.
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy
European Journal of Medical Genetics2017cited by 28position: middledoi
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: firstdoi