A5107742355- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Autism Spectrum Disorder Research
- Cellular transport and secretion
- Child Development and Digital Technology
- Genetic and Kidney Cyst Diseases
- Fetal and Pediatric Neurological Disorders
Development Fund
2024
Hundreds of high confidence autism genes have been identified, yet the relevant etiological mechanisms remain unclear. Gene ontology analyses repeatedly identified enrichment proteins with annotated functions in gene expression regulation and neuronal communication. However, are often pleiotropic these annotations inherently incomplete. Our recent functional genetics work has suggested that may share a common mechanism at cilium, membrane-bound organelle critical for neurogenesis, brain...
Objective: To characterize the longitudinal disease and treatment histories of individuals with SYNGAP1-related disorders. Methods: Participants SYNGAP1 were identified from a range data sources, including insurance claims by ICD-10 diagnosis codes (n=246), specialized medical record registry local cohort followed at single tertiatry health care institution (n=158). Results: Compared to broader population epilepsy, phenotypes associated disorders included behavioral abnormalities (Odds ratio...
Abstract Social attention is a key aspect of neurodevelopment and significantly altered in neurodevelopmental genetic syndromes many individuals with idiopathic autism spectrum disorder (ASD). The primary aim the present study was to examine psychometric properties webcam‐collected social measurements, including four new specific aspects attention, three (PTEN Hamartoma Tumor Syndrome—PHTS; Malan Syndrome—NFIX; SYNGAP1‐related disorder—SYNGAP1), mixed group other (Other NDGS), range (NDD)....