Publications by authors named "Ahood Alsulaiman"
Background: Founder variants are ancestral variants shared by individuals who are not closely related. The large effect size of some of these variants in the context of Mendelian disorders offers numerous precision medicine opportunities.
Methods: Using one of the largest datasets on Mendelian disorders in the Middle East, we identified 2,908 medically relevant founder variants derived from 18,360 exomes and genomes and investigated their contribution to the clinical annotation of the human genome.
Purpose: Consanguineous couples are typically counseled based on familial pathogenic variants identified in affected children. The residual risk for additional autosomal recessive (AR) variants, however, remains largely understudied.
Methods: First, we surveyed pedigrees of 1,859 consanguineous families for evidence of more than one AR disease.
Article Synopsis
- NCKAP1/NAP1 is crucial for neuronal development and impacts cytoskeletal dynamics in the brain; disruptions can lead to conditions like autism spectrum disorder (ASD) and intellectual disability.
- This research analyzes genetic data from 21 individuals with harmful NCKAP1 variants, reporting a correlation with neurodevelopmental disorders such as ASD, language delays, and motor skill issues.
- Findings indicate that NCKAP1 is highly expressed in brain development stages, particularly in excitatory neurons, and its loss-of-function may hinder neuronal migration, linking it to ASD and associated delays.