Publications by authors named "Sarah Bekele"
Article Synopsis
- This study aimed to identify the genetic causes and associations between genotype and phenotype in patients with unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
- Researchers analyzed data from 467 individuals with oCCDDs using exome or genome sequencing, revealing pathogenic variants in 43 probands and variants of uncertain significance in 70 others.
- The findings highlight the genetic diversity of oCCDDs and suggest that they may overlap with other genetic conditions, paving the way for further research on potential genetic links.
Purpose: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
Methods: We coupled phenotyping with exome or genome sequencing of 467 pedigrees with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and variants to identify rare candidate single nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions. Prioritized variants were classified for pathogenicity and evaluated for genotype/phenotype correlations.