Joyce So, MD, PhD
Associate Professor
Pediatrics
School of Medicine

Medical Director of Adult Genetics Joint appointment to Division of General Internal Medicine, Department of Medicine

Publications (4)

Top publication keywords:
Intellectual DisabilityMicrocephalyHallucinationsAngelman SyndromeOcular Motility DisordersGenetic Diseases, X-LinkedSodium-Hydrogen ExchangersNeurodevelopmental DisordersEpilepsyDNA Copy Number VariationsSchizophreniaAtaxiaObsessive-Compulsive DisorderCodon, NonsenseSyndrome

• The Diagnostic Landscape of Adult Neurogenetic Disorders.
  Biology 2023 Waung MW, Ma F, Wheeler AG, Zai CC, So J
• An adult male with SHANK2 variant with epilepsy and obsessive-compulsive disorder: Expanding the shankopathy phenotypic spectrum.
  Clinical genetics 2022 Chenbhanich J, So J
• Copy number variant syndromes are frequent in schizophrenia: Progressing towards a CNV-schizophrenia model.
  Schizophrenia research 2019 Sriretnakumar V, Zai CC, Wasim S, Barsanti-Innes B, Kennedy JL, So J
• The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
  Human genetics 2016 Sinajon P, Verbaan D, So J