Collaborator: Johns Hopkins Medical Institution

• Exome sequencing in a patient with syndromic intellectual disability identifies ZNF238, a novel gene which lies within the 1q43q44 microdeletion syndrome

  April 2, 2026

• Communication strategies utilized by people with NF2 and hearing loss

  April 2, 2026

• Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

• Genetic risk score predicts early age-of-onset of prostate cancer

  April 2, 2026

• Validation of a prostate cancer genetic risk score for clinical use

  April 2, 2026

• Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2

  Mutations in the mitochondrial aminoacyl-tRNA synthetases (mtaaRSs) can cause profound clinical presentations, and have manifested as diseases with very selective tissue specificity. To date most of the mtaaRS mutations could be phenotypically recognized, such that clinicians could identify the affected mtaaRS from the symptoms alone. Among the recently reported pathogenic variants are point mutations in…