Collaborator: The University of Texas

• Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

• Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

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

• Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

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

  August 3, 2026

• A nationwide multi-center study provides insight into the increase in clinically actionable results from concurrent DNA and RNA genetic testing

  April 2, 2026

• SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals

  Abstract Pathogenic de novo variants in the X‐linked gene SLC35A2 encoding the major Golgi‐localized UDP‐galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2‐congenital disorders of glycosylation (CDG; formerly CDG‐IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the…

• Characteristics of patients with a primary brain tumor undergoing panel genetic testing

  April 2, 2026

• De novo missense variants in the alternative exon 5 of SCN2A are a rare cause of neurodevelopmental disorders with or without seizures

  Reviewers’ Choice Abstracts

  April 2, 2026

• Reducing Unnecessary Screening in Lynch-Like Syndrome with Tumor Sequencing

  A simulated case based survey assessed the use of tumor sequencing data in making recommendations for colon and endometrial cancer screening/prevention in suspected Lynch syndrome. Providers often recommend increased screening procedures based on the detection of mismatch repair deficiency by IHC staining, even when no germline MMR mutation has been identified. Knowledge of biallelic somatic…

  April 2, 2026