Joyce So

Joyce So

UNVERIFIED PROFILE

Are you Joyce So?   Register this Author

Register author
Joyce So

Joyce So

Publications by authors named "Joyce So"

Are you Joyce So?   Register this Author

24Publications

884Reads

33Profile Views

Copy number variant syndromes are frequent in schizophrenia: Progressing towards a CNV-schizophrenia model.

Schizophr Res 2019 Jul 10;209:171-178. Epub 2019 May 10.

Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, 250 College Street, Toronto M5T 1R8, Canada; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network & Mount Sinai Hospital, 60 Murray Street, Toronto M5T 3L9, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.schres.2019.04.026DOI Listing
July 2019

Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.

Psychiatr Genet 2019 06;29(3):91-94

The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/YPG.0000000000000219DOI Listing
June 2019

The Nose Knows… or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body Odor.

J Nerv Ment Dis 2019 Mar;207(3):145-151

Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/NMD.0000000000000933DOI Listing
March 2019

Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.

Am J Med Genet B Neuropsychiatr Genet 2019 Jan 16;180(1):46-54. Epub 2018 Dec 16.

Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.b.32702
Publisher Site
http://dx.doi.org/10.1002/ajmg.b.32702DOI Listing
January 2019

Oculoleptomeningeal Amyloidosis Secondary to the Rare Transthyretin c.381T>G (p.Ile127Met) Mutation.

World Neurosurg 2018 Mar 23;111:190-193. Epub 2017 Dec 23.

Division of Neurosurgery, University Health Network, University of Toronto, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S18788750173221
Publisher Site
http://dx.doi.org/10.1016/j.wneu.2017.12.096DOI Listing
March 2018

The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.

Hum Genet 2016 08 3;135(8):841-50. Epub 2016 May 3.

Clinical Genetics, Lakeridge Health, Oshawa, Canada.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-016-1675-5
Publisher Site
http://dx.doi.org/10.1007/s00439-016-1675-5DOI Listing
August 2016

Psychiatric disorders in Ehlers-Danlos syndrome are frequent, diverse and strongly associated with pain.

Rheumatol Int 2016 Mar 3;36(3):341-8. Epub 2015 Oct 3.

Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, 60 Murray Street, Box 34, 3rd Floor, Room 400, Toronto, ON, M5T 3L9, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00296-015-3375-1DOI Listing
March 2016

Microdeletion 8q22.2-q22.3 in a 40-year-old male.

Eur J Med Genet 2015 Nov 9;58(11):569-72. Epub 2015 Oct 9.

The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Canada; Centre for Addiction and Mental Health, Toronto, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.10.004DOI Listing
November 2015

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.

Am J Med Genet A 2015 Sep 6;167A(9):2098-102. Epub 2015 May 6.

Division of Clinical and Metabolics Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37134
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37134DOI Listing
September 2015

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.

Genet Med 2015 Feb 31;17(2):149-57. Epub 2014 Jul 31.

1] Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [2] Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada [3] Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada [4] Department of Psychiatry, University of Toronto and University Health Network, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464824PMC
February 2015

Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.

Am J Med Genet A 2015 Feb 25;167A(2):403-6. Epub 2014 Nov 25.

The Hospital for Sick Children, Department of Pediatrics, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada; Kingston General Hospital, Department of Pediatrics, Division of Medical Genetics, Kingston, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36841DOI Listing
February 2015

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.

Hum Genet 2014 Aug 13;133(8):975-84. Epub 2014 Mar 13.

Human Molecular Genetics Lab, Department of Bioinformatics and Biotechnology, FBAS, International Islamic University, Islamabad, Pakistan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-014-1438-0DOI Listing
August 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

Am J Med Genet A 2014 Feb 5;164A(2):511-5. Epub 2013 Dec 5.

Department of Clinical Genetics, Lakeridge Health Oshawa, Oshawa, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36292
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36292DOI Listing
February 2014

PhenoTips: patient phenotyping software for clinical and research use.

Hum Mutat 2013 Aug 24;34(8):1057-65. Epub 2013 May 24.

Department of Computer Science, University of Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22347DOI Listing
August 2013