Ashna Nisal
A5094086035- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Coronary Artery Anomalies
- Genetic and Kidney Cyst Diseases
- Cellular transport and secretion
- Pancreatic function and diabetes
- Craniofacial Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Congenital Diaphragmatic Hernia Studies
- Congenital Heart Disease Studies
Children’s Institute
2024-2025
University of California, San Diego
2024-2025
Mutations in lipid regulator genes are a frequent cause of autism spectrum disorder, including those regulating phosphatidylinositol (PI) and phosphoinositide 3-kinase signaling. MBOAT7 encodes key acyltransferase PI synthesis is mutated an autism-related condition with neurodevelopmental delay epilepsy. Using liquid chromatography–tandem mass spectrometry, we analyzed the PI-associated glycerolipidome mice humans during neurodevelopment found dynamic regulation at times corresponding to...
Meningomyelocele is one of the most severe forms neural tube defects (NTDs) and frequent structural birth defect central nervous system. We assembled Spina Bifida Sequencing Consortium to identify causes. Exome genome sequencing 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared general population. Furthermore, analysis separate deletion cohort suggested 12- 15-fold NTD meningomyelocele. The loss
Abstract Meningomyelocele (MM) is considered a genetically complex disease resulting from failure of neural tube closure (NTD). Patients display neuromotor disability and frequent hydrocephalus requiring ventricular shunting. A few proposed genes contribute to susceptibility, but most risk remains unexplained 1 . We postulated that de novo mutations (DNMs) under purifying selection MM 2 Here we recruited cohort 851 trios shunting at birth, compared with 732 control trios, found likely gene...