Zain Dardas

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15. 2, 2q31. 1 and 18q21. 32

P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia

Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism