Virgina Lee, MD
Associate Professor
Neurology
School of Medicine

Publications (3)

Top publication keywords:
AllelesEndopeptidasesNeckGenetic Association StudiesSynaptosomal-Associated Protein 25Neurodevelopmental DisordersEpilepsyPhenotypeVestibular DiseasesSiblingsIntellectual DisabilityHematologic DiseasesFaceBrain DiseasesAbnormalities, Multiple

• Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review.
  American journal of medical genetics. Part A 2024 Gangaram B, Lee V, Slavotinek A
• Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
  Genetics in medicine : official journal of the American College of Medical Genetics 2021 Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, …
• De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
  Genetics in medicine : official journal of the American College of Medical Genetics 2020 Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, …