Context To our knowledge, no prospective studies of the developmental course of early and
later diagnosis of autism spectrum disorders from 14 months of age exist. Objective To …

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable …

Background: Social and communication impairments are core deficits and prognostic indicators
of autism. We evaluated the impact of supplementing a comprehensive intervention with …

Despite the increasing diagnostic rate of genomic sequencing, the genetic basis of more than
50% of heritable kidney disease remains unresolved. Kidney organoids differentiated from …

Background— The natural history of aortic diseases in patients with TGFBR1 or TGFBR2
mutations reported by different investigators has varied greatly. In particular, the current …

Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or
associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and …

Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual
disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-…

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes
contributing to specific phenotypes and single gene defects having multiple clinical …

Purpose To report our institutional experience of targeted massively parallel sequencing (MPS)
testing in children with epilepsy. Method We retrospectively analysed the yield of …

Although many materials display the transition from insulating to metallic behavior on doping,
only a few, such as VO 2, have the right combination of crystal structure and physical …