Collaborator: Weill Cornell

• Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression

• 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…

• Targeted Genetic Testing of Sixteen Epilepsy Genes with Known Therapeutic Associations: High Mutation Frequency Rate and Impact on Clinical Management

  Positive findings are detected in the sixteen genes included in the EpiRapid panel at a substantially higher frequency (80%) than positive findings detected in other genes not included on the EpiRapid pane(20%). These sixteen genes are all known to be associated with reported therapies and/or AEDs, which means a positive result has the potential to…

  April 2, 2026