Faculty profile
Joyce So
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Read how they describe their research on their University of Toronto profile.
Latest papers
When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population
American Journal of Medical Genetics Part A · 2024 · senior author
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Journal of medical genetics · 2021
Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services.
European journal of medical genetics · 2020 · senior author
Latest funding
- $105,000
When rare meets common: burden and impact of rare genetic variants in primary psychiatric populations
CIHR · 2016 · Supervisor
17 publications.
When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population
Venuja Sriretnakumar, Ricardo Harripaul, James L. Kennedy, Joyce So
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S, Gutierrez Salazar M, Zakoor KR, Lázaro C, Gu J, Goltz J, Kleinman D, Noor A, Khalouei S, Mighton C, Reble E, Kodida R, Bombard Y, DiTroia S, Baxter S, Watkins N, Care M, Adler A, Horsburgh S, Morar O, Murphy J, Nevay DL, Szybowska M, Aronson M, Panchal S, Godoy R, Holter S, Randall Armel S, Semotiuk K, Elser C, Kim RH, Chitayat D, So J, Faghfoury H, Silver J, Morel CF, Lerner-Ellis J
Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services.
Suddaby JS, Sohaei D, Bell H, Tavares S, Lee GJ, Szybowska M, So J
High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.
So J, Sriretnakumar V, Suddaby J, Barsanti-Innes B, Faghfoury H, Gofine T
Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.
Suddaby JS, Silver J, So J
Oculoleptomeningeal Amyloidosis Secondary to the Rare Transthyretin c.381T>G (p.Ile127Met) Mutation.
Mathieu F, Morgan E, So J, Munoz DG, Mason W, Kongkham P
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations
Venuja Sriretnakumar, Ricardo Harripaul, John B. Vincent, James L. Kennedy, Joyce So
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability
Kirti Mittal, Muhammad Rafiq, Rafiullah Rafiullah, Ricardo Harripaul, Hazrat Ali, Muhammad Ayaz, Muhammad H. Aslam, Farooq Naeem, Muhammad Aminuddin, Ahmed Waqas, Joyce So, Gudrun Rappold, John B. Vincent, Muhammad Ahsin Ayub
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
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
The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
Sinajon P, Verbaan D, So J
When rare meets common: burden and impact of rare genetic variants in primary psychiatric populations
Principal investigators: Sriretnakumar, Venuja
Keywords: Bipolar Disorder; Copy Number Variants (Cnvs); Diagnostic Tools; Genetic Diseases; Major Depressive Disorder; Next-Generation Sequencing (Ngs); Psychiatric Disorders; Schizophrenia
From public funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998 with their latest competition results, the Canada Foundation for Innovation, Genome Canada, the Canadian Space Agency, Canada Research Chairs, the Fonds de recherche du Québec, Ontario research funding, Michael Smith Health Research BC, the Canadian Cancer Society, Heart & Stroke and Brain Canada.
Frequent collaborators
- Stephen Scherer and Christian Marshall: 210 shared papers
- Gregory Costain and Greg Costain: 186 shared papers
- Jordan Lerner-Ellis and Yvonne Bombard: 71 shared papers
- Gregory Costain and Christian Marshall: 62 shared papers
- John Vincent and James Kennedy: 61 shared papers
- Christian Marshall and Greg Costain: 60 shared papers
- Jordan Lerner-Ellis and Raymond Kim: 50 shared papers
- Anne Bassett and Gregory Costain: 43 shared papers
- Anne Bassett and Greg Costain: 43 shared papers
- Stephen Scherer and Gregory Costain: 41 shared papers
- Stephen Scherer and Greg Costain: 41 shared papers
- Anne Bassett and Stephen Scherer: 39 shared papers
- Yvonne Bombard and Raymond Kim: 37 shared papers
- Stephen Scherer and James Kennedy: 35 shared papers
- Raymond Kim and Tracy Stockley: 30 shared papers
- Kym Boycott and Michael Brudno: 29 shared papers
- Kym Boycott and Christian Marshall: 29 shared papers
- John Vincent and Abdul Noor: 28 shared papers
- Stephen Scherer and John Vincent: 26 shared papers
- Jordan Lerner-Ellis and Abdul Noor: 25 shared papers
- Stephen Scherer and Abdul Noor: 24 shared papers
- Yvonne Bombard and Abdul Noor: 22 shared papers
- Michael Brudno and Christian Marshall: 19 shared papers
- Stephen Scherer and Michael Brudno: 17 shared papers
- James Kennedy and Christian Marshall: 17 shared papers
- Jordan Lerner-Ellis and Christine Elser: 12 shared papers
- Yvonne Bombard and Christine Elser: 12 shared papers
- Raymond Kim and Christine Elser: 12 shared papers
- Kym Boycott and Gregory Costain: 10 shared papers
- Stephen Scherer and David Chitayat: 9 shared papers
- David Chitayat and Christian Marshall: 9 shared papers
- David Chitayat and Abdul Noor: 8 shared papers
- Stephen Scherer and Tracy Stockley: 5 shared papers
- Jordan Lerner-Ellis and Hanna Faghfoury: 5 shared papers
- Yvonne Bombard and Hanna Faghfoury: 5 shared papers
- Vanda McNiven and Kym Boycott: 4 shared papers
- Raymond Kim and Hanna Faghfoury: 4 shared papers
- Tracy Stockley and Christian Marshall: 4 shared papers
- Joyce So and Hanna Faghfoury: 4 shared papers
- Vanda McNiven and Gregory Costain: 3 shared papers
- Vanda McNiven and Greg Costain: 3 shared papers
- David Chitayat and Joyce So: 3 shared papers
- John Vincent and Joyce So: 3 shared papers
- Anne Bassett and Joyce So: 2 shared papers
- Joyce So and Timothy Gofine: 2 shared papers
- Paul Kongkham and Warren Mason: 2 shared papers
- Arnon Adler and Hanna Faghfoury: 2 shared papers
- Vanda McNiven and Joyce So: 1 shared paper
- Anne Bassett and Mark Feldman: 1 shared paper
- Kym Boycott and Joyce So: 1 shared paper
- Stephen Scherer and Joyce So: 1 shared paper
- Michael Brudno and Joyce So: 1 shared paper
- David Chitayat and Arnon Adler: 1 shared paper
- David Chitayat and Mark Feldman: 1 shared paper
- Jordan Lerner-Ellis and Joyce So: 1 shared paper
- Jordan Lerner-Ellis and Arnon Adler: 1 shared paper
- Yvonne Bombard and Joyce So: 1 shared paper
- Raymond Kim and Joyce So: 1 shared paper
- Raymond Kim and Paul Kongkham: 1 shared paper
- Gregory Costain and Joyce So: 1 shared paper
- James Kennedy and Joyce So: 1 shared paper
- Francois Mathieu and Joyce So: 1 shared paper
- Francois Mathieu and Paul Kongkham: 1 shared paper
- Francois Mathieu and Warren Mason: 1 shared paper
- Abdul Noor and Joyce So: 1 shared paper
- Tracy Stockley and Joyce So: 1 shared paper
- Joyce So and Paul Kongkham: 1 shared paper
- Joyce So and Christian Marshall: 1 shared paper
- Joyce So and Arnon Adler: 1 shared paper
- Joyce So and Christine Elser: 1 shared paper
- Joyce So and Warren Mason: 1 shared paper
- Joyce So and Greg Costain: 1 shared paper
- Joyce So and Mark Feldman: 1 shared paper
- Timothy Gofine and Hanna Faghfoury: 1 shared paper
- Department of Laboratory Medicine & Pathobiology
- Department of Medicine
- Department of Psychiatry
- Department of Paediatrics
- Department of Surgery
- Department of Molecular Genetics
- Pediatrics
- Other
Co-authors at University of Toronto, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Hanna Faghfoury
Department of Medicine
4 shared papers, latest 2021
David Chitayat
Department of Paediatrics
3 shared papers, latest 2021
John Vincent
Department of Psychiatry
3 shared papers, latest 2018
Timothy Gofine
Department of Psychiatry
2 shared papers, latest 2020
Anne Bassett
Department of Psychiatry
2 shared papers, latest 2015
Arnon Adler
Department of Medicine
1 shared papers, latest 2021
Christine Elser
Department of Medicine
1 shared papers, latest 2021
Warren Mason
Department of Medicine
1 shared papers, latest 2018
Greg Costain
Department of Paediatrics
1 shared papers, latest 2015
Paul Kongkham
Department of Surgery
1 shared papers, latest 2018
Mark Feldman
Department of Paediatrics
1 shared papers, latest 2015
Christian Marshall
Department of Laboratory Medicine & Pathobiology
1 shared papers, latest 2015
Michael Brudno
Faculty
1 shared papers, latest 2013
Sarah Bowdin
Department of Computer Science
1 shared papers, latest 2013
Laurent Mottron
Faculty
1 shared papers, latest 2015
Jordan Lerner-Ellis
Department of Laboratory Medicine & Pathobiology
1 shared papers, latest 2021
Yvonne Bombard
Institute of Health Policy, Management, and Evaluation
1 shared papers, latest 2021
Raymond Kim
Department of Medicine
1 shared papers, latest 2021
Gregory Costain
Department of Molecular Genetics
1 shared papers, latest 2015
James Kennedy
Department of Psychiatry
1 shared papers, latest 2024
Francois Mathieu
Department of Surgery
1 shared papers, latest 2018
Abdul Noor
Department of Laboratory Medicine & Pathobiology
1 shared papers, latest 2021
Vanda McNiven
Department of Pediatrics
1 shared papers, latest 2015
Tracy Stockley
Department of Laboratory Medicine & Pathobiology
1 shared papers, latest 2014
Kym Boycott
Pediatrics
1 shared papers, latest 2013
Stephen Scherer
Department of Molecular Genetics
1 shared papers, latest 2015
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Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.