Collaborator: Children’s Hospital of Orange County, CA (CHOC)

• The limits of Mendelian assumptions in genomic diagnostics: Evidence from longread whole genome sequencing and exome analysis

  Presenting Author: Erica Smith, PhD Take home points:  Some candidate findings identified on long read WGS do not follow the assumptions of Mendelian inheritance, being inherited from “healthy” parents or rather common in population databases. Similarly, in 16,500 consecutive previous diagnostic exome cases, there is also supporting evidence for incomplete penetrance and variable expressivity —…

  April 2, 2026

• Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

• PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

• NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

• ECHS1 disease in two unrelated families of Samoan descent: Common variant – rare disorder

• Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

• NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

  August 3, 2026

• Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

  Abstract Primary mitochondrial complex I deficiency is the most common defect of the mitochondrial respiratory chain. It is caused by defects in structural components and assembly factors of this large protein complex. Mutations in the assembly factor NDUFAF5 are rare, with only five families reported to date. This study provides clinical, biochemical, molecular and functional data for four unrelated…