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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
TLDR
It is shown that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia, and these findings implicate Dchs1 and Fat4 upstream of Yap as key regulators of mammalian neurogenesis.
De Novo Mutations in Moderate or Severe Intellectual Disability
TLDR
It is concluded that DNMs represent a major cause of moderate or severe ID.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
TLDR
It is indicated that de novo missense mutations in the MD of KIF1A cause a phenotype that overlaps with, while being more severe, than that associated with recessive mutation in the same gene.
Screening for Developmental Delay in the Setting of a Community Pediatric Clinic: A Prospective Assessment of Parent-Report Questionnaires
TLDR
Two important conclusions were reached: parent-completed questionnaires can be feasibly used in the setting of a pediatric clinic; and the pediatrician's opinion had little effect in ameliorating the accuracy of either questionnaire.
ANALYSIS OF CLINICAL FEATURES PREDICTING ETIOLOGIC YIELD IN THE ASSESSMENT OF GLOBAL DEVELOPMENTAL DELAY
TLDR
Etiologic yield in an unselected series of young children with global developmental delay is close to 40% overall and 55% in the absence of any coexisting autistic features, suggesting clinical features are readily apparent that may enhance an expectation of a successful etiologic search.
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