Joyce So, MD, PhD

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

  1. Penon-Portmann M, Naugle K, Brodie F, Schallhorn J, Griggs P, So J. Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants. American journal of medical genetics. Part A 2024. PMID: 39166438


  2. Sriretnakumar V, Harripaul R, Kennedy JL, So J. When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population. American journal of medical genetics. Part A 2024. PMID: 38532509


  3. Waung MW, Ma F, Wheeler AG, Zai CC, So J. The Diagnostic Landscape of Adult Neurogenetic Disorders. Biology 2023. PMID: 38132285


  4. Chenbhanich J, So J. An adult male with SHANK2 variant with epilepsy and obsessive-compulsive disorder: Expanding the shankopathy phenotypic spectrum. Volume 101 of Issue 4. 2022. PMID: 35037239


  5. McGillis L, Mittal N, Santa Mina D, So J, Soowamber M, Weinrib A, Soever L, Rozenberg D, Liu L, Tse Y, Katz J, Charames GS, Murphy K, Vadas P, Slepian MP, Walsh S, Wilson L, Adler A, Franzese A, Hussey L, Nevay DL, Guzman J, Clarke H. Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review. American journal of medical genetics. Part A 2019. PMID: 31840928


  6. Sriretnakumar V, Zai CC, Wasim S, Barsanti-Innes B, Kennedy JL, So J. Copy number variant syndromes are frequent in schizophrenia: Progressing towards a CNV-schizophrenia model. Schizophrenia research 2019. PMID: 31080157


  7. Sinajon P, Verbaan D, So J. The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature. Volume 135 of Issue 8. 2016. PMID: 27142213


  8. Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, de Munnik SA, Schuurs-Hoeijmakers J, Ceulemans B, Zollino M, Hoffjan S, Wieczorek S, So J, Mercer L, Walker T, Velsher L, DDD study, Parker MJ, Magee AC, Elffers B, Kooy RF, Yntema HG, Meijers-Heijboer EJ, Sistermans EA. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Journal of medical genetics 2016. PMID: 27075013


  9. Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J, Goobie S, Kawamura A, Lowther C, Prasad C, Siu V, So J, Tung S, Speevak M, Stavropoulos DJ, Carter MT. Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population. American journal of medical genetics. Part A 2015. PMID: 25946043


  10. Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Human mutation 2015. PMID: 25655089


  11. Guerin A, So J, Mireskandari K, Jougeh-Doust S, Chisholm C, Klatt R, Richer J. Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation. American journal of medical genetics. Part A 2014. PMID: 25425531


  12. So J, Stockley T, Stavropoulos DJ. Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. American journal of medical genetics. Part A 2013. PMID: 24311471


  13. So J, Müller I, Kunath M, Herrmann S, Ullmann R, Schweiger S. Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. American journal of medical genetics. Part A 2008. PMID: 18074389


  14. Funke S, Kellermayer R, Czakó M, So J, Kosztolányi G, Ertl T. Congenital chylothorax in Opitz G/BBB syndrome. American journal of medical genetics. Part A 2006. PMID: 16619207


  15. So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S. Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American journal of medical genetics. Part A 2005. PMID: 15558842