John B Vincent

Summary

Country: Canada

Publications

  1. pmc Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
    Wei Xu
    Neurogenetics Section, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health CAMH, R 32, 250 College Street, Toronto, ON M5T 1R8, Canada
    BMC Med Genet 15:2. 2014
  2. doi request reprint Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q
    John B Vincent
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 150:817-26. 2009
  3. ncbi request reprint Sequence variants within exon 1 of MECP2 occur in females with mental retardation
    Chris G Harvey
    Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, CAMH, University of Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 144:355-60. 2007
  4. pmc Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
    Abdul Noor
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Sci Transl Med 2:49ra68. 2010
  5. ncbi request reprint Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong
    Albert K Mensah
    Molecular Neuropsychiatry and Development Laboratory, Toronto, Canada
    Schizophr Res 95:228-35. 2007
  6. doi request reprint Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
    Anath C Lionel
    The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada
    Hum Mol Genet 22:2055-66. 2013
  7. pmc Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3
    Abdul Noor
    Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada
    Am J Hum Genet 84:519-23. 2009
  8. doi request reprint A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints
    John B Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    Psychiatr Genet 18:101-9. 2008
  9. doi request reprint Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2
    Peter J Gianakopoulos
    Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 159:210-6. 2012
  10. pmc Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability
    Muzammil Ahmad Khan
    Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    Am J Hum Genet 90:856-63. 2012

Detail Information

Publications26

  1. pmc Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
    Wei Xu
    Neurogenetics Section, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health CAMH, R 32, 250 College Street, Toronto, ON M5T 1R8, Canada
    BMC Med Genet 15:2. 2014
    ..Recently, genome-wide association studies (GWAS) for cases versus controls using single nucleotide polymorphism microarray data have shown promising findings for complex neuropsychiatric disorders, including bipolar disorder (BD)...
  2. doi request reprint Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q
    John B Vincent
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 150:817-26. 2009
    ..While a role for SH3TC2, ADRB2, and HTR4 as putative candidate genes for autism cannot be discounted, a role for the desmocollin genes at the 18q breakpoint should also be considered...
  3. ncbi request reprint Sequence variants within exon 1 of MECP2 occur in females with mental retardation
    Chris G Harvey
    Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, CAMH, University of Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 144:355-60. 2007
    ..We suggest some of these variants may be a relatively frequent cause of non-specific MR or developmental delay...
  4. pmc Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
    Abdul Noor
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Sci Transl Med 2:49ra68. 2010
    ..Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability...
  5. ncbi request reprint Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong
    Albert K Mensah
    Molecular Neuropsychiatry and Development Laboratory, Toronto, Canada
    Schizophr Res 95:228-35. 2007
    ..016). This study suggests that the 4q breakpoint regions may harbour a gene that contributes to the illness in the large Hong Kong pedigree, and this 4q25 region should be examined further in other schizophrenia samples...
  6. doi request reprint Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
    Anath C Lionel
    The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada
    Hum Mol Genet 22:2055-66. 2013
    ..Our data also add to the accumulating evidence implicating neuronal synaptic gene products as key molecular factors underlying the etiologies of a diverse range of neurodevelopmental conditions...
  7. pmc Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3
    Abdul Noor
    Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada
    Am J Hum Genet 84:519-23. 2009
    ....
  8. doi request reprint A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints
    John B Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    Psychiatr Genet 18:101-9. 2008
    ..Our aim is to use information from cytogenetic anomalies to identify candidate genes for autism...
  9. doi request reprint Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2
    Peter J Gianakopoulos
    Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 159:210-6. 2012
    ..Altogether, our work further supports our hypothesis that MECP2_e1 is the predominant isoform involved in the neuropathology of Rett syndrome...
  10. pmc Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability
    Muzammil Ahmad Khan
    Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    Am J Hum Genet 90:856-63. 2012
    ..The ID combined with a unique profile of comorbid features presented here makes this an important genetic discovery, and the involvement of NSUN2 highlights the role of RNA methyltransferase in human neurocognitive development...
  11. ncbi request reprint Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
    Gerald Egger
    Neurogenetics Section, R 30, The Campbell Family Brain Research Institute, The Centre for Addiction and Mental Health CAMH, 250 College Street, Toronto, ON, M5T 1R8, Canada
    Neurogenetics 15:117-27. 2014
    ..Several others disrupt genes that have previously been implicated in autism, such as BDNF, AUTS2, DPP6, and C18orf22, and our data add to the growing evidence of their involvement in ASD...
  12. pmc CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
    Abdul Noor
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada
    Am J Hum Genet 82:1011-8. 2008
    ..Identifying the function of CC2D2A, and a possible common pathway with CC2D1A, in correct neuronal development and functioning may help identify possible therapeutic targets for MR...
  13. pmc A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient
    Taimoor I Sheikh
    Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada
    Orphanet J Rare Dis 8:108. 2013
    ..To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype...
  14. ncbi request reprint Adrenergic alpha 2C receptor genomic organization: association study in adult ADHD
    Vincenzo De Luca
    Psychiatric Neurogenetics, Department of Psychiatry, Clarke Site, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 127:65-7. 2004
    ..There was no preferential transmission of any allele. These findings exclude a strong effect of this ADRA2C marker on risk for ADHD in our sample of adult proband families...
  15. ncbi request reprint Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands
    John B Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON, Canada
    Am J Med Genet B Neuropsychiatr Genet 129:82-4. 2004
    ..Our own study, screening a larger sample of 196 autism probands, failed to identify any mutations that would affect the coding regions of these genes. Our findings suggest that mutations in these two genes are infrequent in autism...
  16. pmc Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
    Muhammad Arshad Rafiq
    Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Hum Genet 89:176-82. 2011
    ..MAN1B1 is one of the few NS-ARID genes with an elevated mutation frequency in patients with NS-ARID from different populations...
  17. ncbi request reprint Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes
    Abdul Noor
    Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 165:303-13. 2014
    ..Further, the identification of CNVs at multiple members of the neurexin gene family in BD individuals, supports the role of synaptic disruption in the etiology of BD...
  18. pmc Over-Expression of Either MECP2_e1 or MECP2_e2 in Neuronally Differentiated Cells Results in Different Patterns of Gene Expression
    Marija Orlic-Milacic
    Molecular Neuropsychiatry and Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    PLoS ONE 9:e91742. 2014
    ....
  19. pmc Structural variation of chromosomes in autism spectrum disorder
    Christian R Marshall
    The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
    Am J Hum Genet 82:477-88. 2008
    ..Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup...
  20. pmc An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1
    Christian Windpassinger
    Neurogenetics Section, The Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, M5T 1R8, Canada
    Am J Hum Genet 82:88-99. 2008
    ..Mutation screening of FHL1 should be considered for patients with uncharacterized myopathies and cardiomyopathies...
  21. ncbi request reprint Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism
    John B Vincent
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
    Am J Med Genet B Neuropsychiatr Genet 125:54-6. 2004
    ..05)...
  22. pmc Functional impact of global rare copy number variation in autism spectrum disorders
    Dalila Pinto
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
    Nature 466:368-72. 2010
    ..Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways...
  23. ncbi request reprint Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment
    Vincenzo De Luca
    Neurogenetics Section, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, 250 College Street R 30, Toronto, Ont, Canada M5T 1R8
    Pharmacol Res 51:381-4. 2005
    ..Our results suggest that the novel polymorphism may not play a major role in antipsychotic response...
  24. pmc Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophrenia
    Sophocles Voineskos
    Neurogenetics Section, Clarke Site, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, Ont
    J Psychiatry Neurosci 32:412-6. 2007
    ..Schizophrenia patients are usually heavy smokers. In this study we hypothesized that high-affinity nicotinic receptors are associated with smoking in such patients...
  25. ncbi request reprint A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
    Gevork N Mnatzakanian
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    Nat Genet 36:339-41. 2004
    ..Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome...
  26. ncbi request reprint Anticipation and CAG*CTG repeat expansion in schizophrenia and bipolar affective disorder
    M Teresa Fortune
    Neurogenetics Section, Centre for Addiction and Mental Health, Clarke Division, 250 College Street, Toronto, ON M5T 1R8, Canada
    Curr Psychiatry Rep 5:145-54. 2003
    ..However, despite promising findings in the mid-1990s, no trinucleotide repeat expansion has yet been identified as a cause of idiopathic schizophrenia or BPAD...