J. So

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PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Michael Brudno, Sergiu Dumitriu, Marc Fiume, 2013, Human mutation.

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

A. Noor, Y. Bombard, S. Horsburgh, 2020, Journal of Medical Genetics.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

J. Schuurs-Hoeijmakers, B. Ceulemans, T. Kleefstra, 2016, Journal of Medical Genetics.

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

J. Vincent, M. Rafiq, J. So, 2014, Human Genetics.

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

J. Vincent, J. Kennedy, J. So, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

J. So, J. Silver, J. Suddaby, 2019, Psychiatric genetics.

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.

Glennis A. Logsdon, Louis T. Dang, Stormy J. Chamberlain, 2022, American journal of human genetics.

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

J. So, R. Klatt, Caitlin Chisholm, 2015, American journal of medical genetics. Part A.

An adult male with SHANK2 variant with epilepsy and obsessive‐compulsive disorder: Expanding the shankopathy phenotypic spectrum

J. So, J. Chenbhanich, 2022, Clinical genetics.

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

H. Faghfoury, J. So, S. Wasim, 2016, Rheumatology International.

Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers–Danlos syndrome and hypermobility spectrum disorders: a retrospective study

J. So, S. Wasim, B. Ho, 2019, Rheumatology International.

Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

J. So, P. Vadas, G. Charames, 2019, American journal of medical genetics. Part A.

Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services.

M. Szybowska, J. So, H. Bell, 2019, European journal of medical genetics.

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

J. Kennedy, J. So, C. Zai, 2019, Schizophrenia Research.

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

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

S. Scherer, A. C. Lionel, C. Marshall, 2014, Journal of Neurodevelopmental Disorders.

Congenital chylothorax in Opitz G/BBB syndrome

J. So, T. Ertl, S. Funke, 2006, American journal of medical genetics. Part A.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a

J. Ganesh, I. Krantz, H. Hakonarson, 2015 .

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

J. So, R. Ullmann, S. Schweiger, 2008, American journal of medical genetics. Part A.

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

A. Bassett, D. Chitayat, V. Siu, 2015, American journal of medical genetics. Part A.

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

Christian R. Marshall, Dimitri J. Stavropoulos, Gregory Costain, 2014, Genetics in Medicine.

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

T. Stockley, J. So, D. Stavropoulos, 2014, American journal of medical genetics. Part A.

High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations

H. Faghfoury, J. So, T. Gofine, 2020, Canadian journal of psychiatry. Revue canadienne de psychiatrie.

Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization

Constance Scharff, Andrea Köhler, Rainer Schneider, 2009, PloS one.

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

J. Vincent, M. Rafiq, J. So, 2014, Human Genetics.

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability

J. Vincent, M. Rafiq, Farooq Naeem, 2016, Journal of Human Genetics.

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

J. So, P. Sinajon, Deborah Verbaan, 2016, Human Genetics.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

J. Opitz, K. Devriendt, H. Firth, 2005, American journal of medical genetics. Part A.

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

J. Kennedy, J. So, R. Harripaul, 2021, bioRxiv.

Buschke–Ollendorff syndrome: a novel case series and systematic review

J. So, R. Mendoza-Londono, L. Dupuis, 2016, The British journal of dermatology.

Enrichment of gene variants associated with treatable genetic disorders in psychiatric populations

J. Vincent, J. Kennedy, J. So, 2018, bioRxiv.

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

W. Mason, D. Munoz, J. So, 2018, World neurosurgery.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

J. Vincent, M. Rafiq, L. Mottron, 2015, BMC Medical Genetics.

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

J. So, G. Zai, Vanda McNiven, 2019, The Journal of nervous and mental disease.

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

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.