Collaborator: Queen Mary University of London

• Clinical validity of autosomal dominant ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy

• The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

• Somatic Tumor Profile Analysis in a Patient with Germline PMS2 Mutation and Synchronous Ovarian and Uterine Carcinomas

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

• Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis

  Abstract Eosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic etiology often associated with other comorbidities. Using whole-exome sequencing (WES) of 63 patients with EoE and 60 unaffected family members and family-based trio analysis, we sought to uncover rare coding variants. WES analysis identified 5 rare, damaging variants in dehydrogenase…

• Biallelic Mutations in the Ferredoxin Reductase Gene Cause Novel Mitochondriopathy with Optic Atrophy

  April 2, 2026