J. Vincent

发表

Functional impact of global rare copy number variation in autism spectrum disorders

Gary D Bader, Joseph T. Glessner, Stephen J. Guter, 2010, Nature.

A genome-wide scan for common alleles affecting risk for autism

Margaret A. Pericak-Vance, Kathryn Roeder, Thomas Bourgeron, 2010, Human molecular genetics.

Individual common variants exert weak effects on the risk for autism spectrum disorders

Margaret A. Pericak-Vance, Kathryn Roeder, Thomas Bourgeron, 2012, Human molecular genetics.

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

Manuel A. R. Ferreira, John P. Rice, Edward G. Jones, 2011, Nature Genetics.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Jianxin Shi, Susmita Datta, Aribert Rothenberger, 2013, Nature Genetics.

A reference panel of 64,976 haplotypes for genotype imputation

Alan M. Kwong, Shane A. McCarthy, Warren W. Kretzschmar, 2015, Nature Genetics.

Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Am J Medical Genetics Part B (Neuropsychiatric Genetic) 144B:355–360 (2007)

S. Scherer, A. Noor, W. Roberts, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry

Robert C. Thompson, W. Guan, D. Absher, 2009, Proceedings of the National Academy of Sciences.

Meta-analysis of genome-wide association data detects a risk locus for major mood disorders on chromosome 3p21.1

Thomas W. Mühleisen, S. Cichon, P. Muglia, 2009, Nature Genetics.

Genome-wide association study identifies 30 Loci Associated with Bipolar Disorder

Melissa J. Green, Robert C. Thompson, Pamela B. Mahon, 2017, bioRxiv.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

John P. Rice, Melissa J. Green, Robert C. Thompson, 2017, Cell.

Structural variation of chromosomes in autism spectrum disorder.

D. Pinto, L. Feuk, S. Scherer, 2008, American journal of human genetics.

Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

Laura J. Scott, Naomi R. Wray, Margaret A. Pericak-Vance, 2015, American journal of human genetics.

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

J. Vincent, M. Willis, T. Sheikh, 2013, Orphanet Journal of Rare Diseases.

Genome-wide association study identifies 30 Loci Associated with Bipolar Disorder

Jakob Grove, Esben Agerbo, Andres Metspalu, 2017, bioRxiv.

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

Inês Barroso, Lowell Satler, Paul Scheet, 2010, Nature Genetics.

Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

Janice M. Fullerton, D. Rujescu, S. Cichon, 2020, bioRxiv.

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

J. Vincent, A. Caglayan, R. Abou Jamra, 2016, American journal of human genetics.

The role of N-terminal modification of MeCP2 in the pathophysiology of Rett syndrome

J. Vincent, J. Ausió, S. Akhtar, 2017, bioRxiv.

Investigation of cholecystokinin system genes in panic disorder

J. Vincent, J. Kennedy, R. Crowe, 1999, Molecular Psychiatry.

A multi-tissue analysis identifies HLA complex group 9 gene methylation differences in bipolar disorder

J. Vincent, P. Jia, J. Mill, 2012, Molecular Psychiatry.

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Matthew J. Brauer, A. Noor, V. Sheffield, 2011, Cell.

A reference panel of 64,976 haplotypes for genotype imputation

Laura J. Scott, He Zhang, Gonçalo Abecasis, 2015, bioRxiv.

Polyglutamine-containing proteins in schizophrenia: an effect of lymphoblastoid cells?

J. Vincent, J. Kennedy, L. Surh, 2000, Molecular Psychiatry.

Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

N. Wray, D. Rujescu, S. Cichon, 2018, bioRxiv.

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes 1 2 Primary

John P. Rice, Melissa J. Green, Robert C. Thompson, 2018 .

Unstable repeat expansion in major psychiatric disorders: two decades on, is dynamic DNA back on the menu?

J. Vincent, 2016, Psychiatric genetics.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

John P. Rice, Melissa J. Green, Robert C. Thompson, 2017, Cell.

Characterisation of age and polarity at onset in bipolar disorder

Till F. M. Andlauer, S. Cichon, S. Djurovic, 2021, The British Journal of Psychiatry.

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Hunna J. Watson, James E. Mitchell, Melissa J. Green, 2020, medRxiv.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Daniela C. Zarnescu, J. Gécz, J. Vincent, 2020, Nature Genetics.

Genetic association analysis of serotonin system genes in bipolar affective disorder.

J. Vincent, H. Gurling, J. Lawrence, 1999, The American journal of psychiatry.

Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophrenia.

J. Vincent, J. Kennedy, Albert K. Mensah, 2007, Journal of psychiatry & neuroscience : JPN.

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization

J. Vincent, S. Santangelo, N. Vasli, 2021, Genes.

MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2

J. Vincent, M. Zytnicki, M. Esteller, 2018, Epigenetics & Chromatin.

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

A. Noor, J. Vincent, A. Paterson, 2008, American journal of human 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.

Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment.

J. Lieberman, J. Vincent, P. Czobor, 2005, Pharmacological research.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Thomas Bourgeron, Alberto Segre, Alberto Maria Segre, 2007, Nature Genetics.

Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.

S. Scherer, B. Fernandez, C. Marshall, 2009, Psychiatric genetics.

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

A. Noor, J. Vincent, B. Alman, 2009, American journal of 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.

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

J. Vincent, G. Webersinke, C. Enzinger, 2014, Human molecular genetics.

Intergenerational CAG repeat expansion at ERDA1 in a family with childhood-onset depression, schizoaffective disorder, and recurrent major depression.

J. Vincent, J. Kennedy, M. Kovács, 1999, American journal of medical genetics.

Assessing the contributions of childhood maltreatment subtypes and depression case-control status on telomere length reveals a specific role of physical neglect

J. Vincent, M. Hotopf, G. Breen, 2017, Journal of affective disorders.

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.

Michael L. Gonzales, J. Vincent, M. Golub, 2014, Human molecular genetics.

Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases.

J. Vincent, S. Humphries, P. Talmud, 1990, Atherosclerosis.

Disruption at the Ptchd1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Nih Public Access

Chi-Chung Hui, Andre Franke, Geraldine Dawson, 2010 .

The unstable trinucleotide repeat story of major psychosis.

J. Vincent, A. Paterson, J. Kennedy, 2000, American journal of medical genetics.

The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1.

S. Scherer, J. Vincent, J. Skaug, 2000, DNA research : an international journal for rapid publication of reports on genes and genomes.

New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse

A. Noor, J. Vincent, S. Dugan, 2015, American journal of medical genetics. Part A.

Sequence variants within exon 1 of MECP2 occur in females with mental retardation

S. Scherer, A. Noor, W. Roberts, 2007 .

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome

Carol J. Saunders, J. Vincent, C. Saunders, 2009, American journal of medical genetics. Part A.

MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation

J. Vincent, J. Ausió, S. Akhtar, 2017, Human molecular genetics.

Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome

J. Vincent, H. Gurling, J. Vincent, 1998, Human mutation.

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan

J. Vincent, S. Mahmood, S. Maqbool, 2022, Genes.

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

J. Vincent, T. Wienker, H. Ropers, 2018, Human molecular genetics.

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

Gabriel B. Benigno, J. Vincent, A. Muotri, 2022, Translational Psychiatry.

Search for unstable DNA in schizophrenia families with evidence for genetic anticipation.

J. Vincent, W. Honer, J. Kennedy, 1996, American journal of human genetics.

Long repeat tracts at SCA8 in major psychosis.

M. Owen, M. O’Donovan, J. Vincent, 2000, American journal of medical genetics.

Supplementary information Ptchd 1 deficiency induces exciatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017 .

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

J. Vincent, M. Rafiq, G. Rouleau, 2014, Human Genetics.

Human secretin (SCT): gene structure, chromosome location, and distribution of mRNA

S. Scherer, J. Vincent, Lin Chen, 2000, Cytogenetic and Genome Research.

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

S. Gabriel, J. Vincent, M. Rafiq, 2014, American journal of human genetics.

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

Tariq Ahmad, Inês Barroso, Lowell Satler, 2010, Nature Genetics.

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations

J. Vincent, F. Ullah, Muzammil Ahmad Khan, 2019, Annals of human genetics.

Mutation screening of X‐chromosomal neuroligin genes: No mutations in 196 autism probands

S. Scherer, P. Bolton, W. Roberts, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.

A. Noor, J. Vincent, R. Weksberg, 2012, American journal of human genetics.

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

Dan J Stein, Melissa J. Green, Janice M. Fullerton, 2021, Nature Genetics.

Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

Hunna J. Watson, Ryan L. Collins, Dan J Stein, 2019, bioRxiv.

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Laura J. Scott, Naomi R. Wray, Margaret A. Pericak-Vance, 2015, Nature Neuroscience.

Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1

P. Muglia, A. Noor, J. Vincent, 2014, BMC Medical Genetics.

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

John Wei, P. Muglia, A. C. Lionel, 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

S. Scherer, A. C. Lionel, C. Marshall, 2014, neurogenetics.

Common Genetic Etiologies and Biological Pathways Shared Between Autism Spectrum Disorders and Intellectual Disabilities

A. Noor, J. Vincent, M. Ayub, 2011 .

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

S. Scherer, A. Noor, W. Roberts, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A translocation t(6;7)(p11–p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints

S. Scherer, C. Marshall, J. Vincent, 2008, Psychiatric genetics.

Oligonucleotides as short as 7-mers can be used for PCR amplification.

J. Vincent, G. Melmer, H. Gurling, 1994, DNA and cell biology.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Joseph T. Glessner, Stephen J. Guter, D. Pinto, 2011, Human Genetics.

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Andrew D Paterson, Abdul Noor, A. Noor, 2008, American journal of human genetics.

Contribution of SHANK3 mutations to autism spectrum disorder.

Christian R Marshall, Wendy Roberts, Dalila Pinto, 2007, American journal of human genetics.

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

D. Pinto, C. Noakes, A. Noor, 2011, Clinical genetics.

The genetics of the mood disorder spectrum: genome-wide association analyses of over 185,000 cases and 439,000 controls

Melissa J. Green, Robert C. Thompson, Pamela B. Mahon, 2018, bioRxiv.

Genome-wide association study identifies 30 Loci Associated with Bipolar Disorder

Melissa J. Green, Robert C. Thompson, Pamela B. Mahon, 2017, bioRxiv.

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes

J. Vincent, J. Knowles, L. French, 2021, medRxiv.

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

A. Noor, J. Vincent, R. Weksberg, 2011, American journal of human genetics.

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

A. C. Lionel, C. Marshall, A. Noor, 2014, neurogenetics.

Citation for Published Item: Use Policy the Genetic Basis of Non-syndromic Intellectual Disability: a Review

John B. Vincent, J. Vincent, Muhammad Ayub, 2022 .

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

S. Scherer, G. Kirov, D. Merico, 2013, Human molecular genetics.

The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.

Abdul Noor, A. Noor, J. Vincent, 2017, Cold Spring Harbor perspectives in medicine.

Wide phenotypic spectrum of human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

J. Vincent, A. Muotri, D. C. Rodrigues, 2020, bioRxiv.

GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

N. Wray, D. Rujescu, S. Cichon, 2019, The American journal of psychiatry.

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.

S. Scherer, J. Vincent, A. Boright, 2001, American journal of human genetics.

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Wendy Roberts, Juha Kere, Lars Feuk, 2006, American journal of human genetics.

Quantitative leukocyte BDNF promoter methylation analysis in bipolar disorder

J. Vincent, J. Kennedy, A. Petronis, 2013, International Journal of Bipolar Disorders.

Frequency analysis of large CAG/CTG trinucleotide repeats in schizophrenia and bipolar affective disorder.

J. Vincent, G. Sirugo, H. Meltzer, 1996, Molecular psychiatry.

Common variant at 16p11.2 conferring risk of psychosis

M. Pirinen, H. Stefánsson, D. Rujescu, 2014, Molecular Psychiatry.

A role for common fragile site induction in amplification of human oncogenes.

David I. Smith, S. Scherer, J. Vincent, 2002, Cancer cell.

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.

J. Vincent, T. Ashizawa, M. Pandolfo, 2004, American journal of human genetics.

Anticipation and CAG•CTG repeat expansion in schizophrenia and bipolar affective disorder

J. Vincent, J. Kennedy, M. T. Fortune, 2003, Current psychiatry reports.

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Hoang T. Nguyen, G. Abecasis, H. Kang, 2021, Molecular Psychiatry.

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

S. Scherer, A. C. Lionel, C. Marshall, 2015, Human mutation.

Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

D. Rujescu, S. Cichon, I. Giegling, 2021, Biological Psychiatry.

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

S. Scherer, A. Noor, J. Vincent, 2006, Molecular Genetics and Genomics.

Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Thomas W. Mühleisen, N. Wray, D. Rujescu, 2017, Translational Psychiatry.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

A. Noor, J. Vincent, Hanns Lochmüller, 2008, American journal of human genetics.

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).

S. Scherer, J. Vincent, C. Windpassinger, 2006, European journal of medical genetics.

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability

J. Vincent, M. Rafiq, A. Bhatti, 2016, Psychiatric genetics.

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

K Nakabayashi, S W Scherer, S. Scherer, 2001, Genomics.

MeCP2: The Genetic Driver of Rett Syndrome Epigenetics

J. Vincent, J. Ausió, Katrina V Good, 2021, Frontiers in Genetics.

Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan

J. Vincent, M. Rafiq, E. Schaftingen, 2015, Clinical genetics.

Contribution of SHANK 3 Mutations to Autism Spectrum Disorder

D. Pinto, S. Scherer, J. Sutcliffe, 2007 .

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene

J. Vincent, P. Frankland, P. Hamel, 2022, Genes.

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017, Molecular Psychiatry.

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

S. Scherer, J. Vincent, M. Friez, 2004, Nature Genetics.

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

A. Noor, J. Vincent, M. Rafiq, 2017, Molecular Psychiatry.

Detection of expansion regions in Portuguese bipolar families.

J. Vincent, C. Pato, M. Azevedo, 2000, American journal of medical genetics.

Analysis of genome-wide CAG/CTG repeats, and at SEF2-1B and ERDA1 in schizophrenia and bipolar affective disorder

J. Lieberman, J. Vincent, H. Y. Meltzer, 1999, Molecular Psychiatry.

Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region

P. Bolton, J. Vincent, H. Gurling, 2005, Psychiatric genetics.

Association and transmission analysis of the FMR1 IVS10 + 14C‐T variant in autism

S. Scherer, W. Roberts, J. Vincent, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.

S. Scherer, P. Bolton, W. Roberts, 2000, American journal of human genetics.

Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes.

P. Bolton, J. Vincent, M. Rutter, 1997, Human heredity.

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates

J. Vincent, Judy S. H. Liu, E. Morrow, 2019, Human Genetics.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

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.

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

J. Vincent, M. Rafiq, H. Sticht, 2015, Human molecular genetics.

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Gloria L. Porras-Hurtado, J. Vincent, Hiba Mohammed, 2021, European Journal of Human Genetics.

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

J. Vincent, C. Schwarzer, K. Girisha, 2021, Translational Psychiatry.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong

S. Scherer, A. Noor, J. Vincent, 2007, Schizophrenia Research.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Genetic predisposition to advanced biological ageing increases risk for childhood-onset recurrent major depressive disorder in a large UK sample

J. Vincent, M. Hotopf, G. Breen, 2017, Journal of affective disorders.

Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.

Stephen W Scherer, S. Scherer, J. Vincent, 2003, Genomics.

MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro

J. Vincent, M. Ayub, R. Harripaul, 2018, Human mutation.

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

J. Vincent, J. Ausió, H. Faghfoury, 2016, Scientific Reports.

The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.

Joseph Cheung, Stephen W Scherer, S. Scherer, 2002, Genomics.

MeCP2: latest insights fundamentally change our understanding of its interactions with chromatin and its functional attributes

J. Vincent, J. Ausió, 2021, BioEssays : news and reviews in molecular, cellular and developmental biology.

Genome-wide association study of suicidal behaviour severity in mood disorders

J. Vincent, G. Breen, L. Jones, 2021, The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry.

Sequence Analysis of Drug Target Genes with Suicidal Behavior in Bipolar Disorder Patients

J. Vincent, J. Kennedy, G. Zai, 2018, Molecular Neuropsychiatry.

Over-Expression of Either MECP2_e1 or MECP2_e2 in Neuronally Differentiated Cells Results in Different Patterns of Gene Expression

J. Vincent, J. Ellis, B. Minassian, 2014, PloS one.

Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2

Carol J. Saunders, J. Vincent, Yuzhi Zhang, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome

J. Vincent, C. Saunders, G. Rouleau, 2005, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Adrenergic alpha 2C receptor genomic organization: Association study in adult ADHD

P. Muglia, J. Vincent, J. Kennedy, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus.

J. Lieberman, J. Vincent, A. Paterson, 2000, American journal of human genetics.

Population-based linkage analysis of schizophrenia and bipolar case–control cohorts identifies a potential susceptibility locus on 19q13

D. Rujescu, P. Muglia, C. Francks, 2010, Molecular Psychiatry.

Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia

F. McMahon, J. Vincent, M. McInnis, 2000, Molecular Psychiatry.

Clinical characteristics of bipolar disorder subjects with large CAG/CTG repeat DNA.

J. Vincent, J. Kennedy, S. Parikh, 1999, Journal of affective disorders.

No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins

H. Pétursson, J. Vincent, M. McInnis, 1998, Human Genetics.

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain

J. Vincent, M. Azam, R. Harripaul, 2020, Journal of Human Genetics.

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.

A. Noor, J. Vincent, R. Weksberg, 2009, American journal of human genetics.

Characterization of Age and Polarity at Onset in Bipolar Disorder

Janice M. Fullerton, Till F. M. Andlauer, S. Cichon, 2021, medRxiv.

Admixture analysis of age at onset in bipolar disorder

P. Muglia, J. Vincent, A. Farmer, 2011, Psychiatry Research.

An AvaII polymorphism in the haptoglobin α gene (HPA)

J. Vincent, S. Humphries, S. Dawson, 1989 .

Association of smoked cannabis with treatment resistance in schizophrenia

J. Vincent, O. Ayonrinde, M. Tariq, 2019, Psychiatry Research.

Association of α4β2 nicotinic receptor and heavy smoking in schizophrenia

J. Vincent, J. Kennedy, V. Luca, 2007 .

The Bipolar Association Case–Control Study (BACCS) and meta‐analysis: No association with the 5,10‐Methylenetetrahydrofolate reductase gene and bipolar disorder

P. Muglia, N. Craddock, M. Owen, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Summaries of plenary and selected symposia sessions at the XXIV World Congress of Psychiatric Genetics; Jerusalem, Israel; 30 October 2016-3 November 2016.

J. Vincent, R. Polimanti, A. Ori, 2017, Psychiatric genetics.

Investigation of correlations between DNA methylation, suicidal behavior and aging

J. Vincent, J. Kennedy, J. Strauss, 2017, Bipolar disorders.

A genome-wide association study of suicide severity scores in bipolar disorder.

Sarah A. Gagliano, J. Vincent, G. Breen, 2015, Journal of psychiatric research.

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

D. Geschwind, J. Vincent, A. Schumacher, 2004, Genomics.

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

J. Vincent, O. Islam, M. Jelani, 2021, Scientific Reports.

Differential Allelic Expression of HTR1B in Suicide Victims: Genetic and Epigenetic Effect of the Cis-Acting Variants

J. Vincent, J. Kennedy, A. Howe, 2017, Neuropsychobiology.

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

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

Replicated association of the NR4A3 gene with smoking behaviour in schizophrenia and in bipolar disorder

J. Vincent, H. Meltzer, J. Kennedy, 2010, Genes, brain, and behavior.

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

J. Vincent, P. Gönczy, C. Enzinger, 2014, Human molecular genetics.

Exome sequencing identifies novel and known mutations in families with intellectual disability

J. Vincent, M. Ansar, R. Harripaul, 2021, BMC Medical Genomics.

Estimating the heritability of reporting stressful life events captured by common genetic variants

John P. Rice, P. Muglia, M. Rietschel, 2012, Psychological Medicine.

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

S. Scherer, J. Vincent, C. Windpassinger, 2004, American journal of medical genetics. Part A.

Mixture regression analysis on age at onset in Bipolar Disorder patients: Investigation of the role of serotonergic genes

J. Vincent, J. Kennedy, V. Luca, 2010, European Neuropsychopharmacology.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

J. Vincent, H. Stehr, H. Ropers, 2015, Human molecular genetics.

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

A. Noor, J. Vincent, M. Rafiq, 2011, BMC Medical Genetics.

Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families

J. Vincent, M. Rafiq, Farooq Naeem, 2017, Journal of Pediatric Genetics.

An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster

S. Scherer, W. Roberts, J. Vincent, 2005, Journal of Medical Genetics.

Exome sequencing identifies novel and known mutations in families with intellectual disability

J. Vincent, M. Ansar, R. Harripaul, 2021, BMC medical genomics.

Title Estimating the heritability of reporting stressful life eventscaptured by common genetic variants

P. Muglia, M. Rietschel, M. Gill, 2013 .

Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families

J. Vincent, M. Rafiq, A. Bhatti, 2014, Acta Neuropsychiatrica.

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.

Search for unstable DNA in schizophrenia

J. Vincent, A. Paterson, W. Honer, 1998, Schizophrenia Research.

Investigation of the genetic interaction between BDNF and DRD3 genes in suicidical behaviour in psychiatric disorders

S. Djurovic, O. Andreassen, J. Vincent, 2015, The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry.

Narrow-sense heritability estimation of complex traits using identity-by-descent information

Ross M. Fraser, Alan M. Kwong, Shane A. McCarthy, 2017, bioRxiv.

Association of HPA axis genes with suicidal behaviour in schizophrenia

J. Vincent, V. Luca, J. Strauss, 2010, Journal of psychopharmacology.

18 – Dynein axonemal light chain 4: Involvement in congenital mirror movement disorder

J. Vincent, 2018 .

Spongious Hypertrophic Cardiomyopathy in Patients With Mutations in the Four-and-a-Half LIM Domain 1 Gene

J. Vincent, A. Berghold, G. Plank, 2012, Circulation. Cardiovascular genetics.

Epigenetic age dysregulation in individuals with bipolar disorder and schizophrenia

J. Vincent, G. Remington, V. Luca, 2022, Psychiatry Research.

Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan

J. Vincent, M. Ayub, R. Harripaul, 2016, Clinical genetics.

Association analysis of DAOA and DAO in bipolar disorder: results from two independent case-control studies.

P. Muglia, J. Vincent, I. Craig, 2010, Bipolar disorders.

Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisons and Haplotype Analysis of 37 Families with Ataxia

J. Vincent, T. Ashizawa, M. Pandolfo, 2022 .

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.

John P. Rice, Simon C. Potter, Melissa J. Green, 2018, Cell.

Genome-wide association study of over 40,000 bipolar disorder cases provides novel biological insights

John P. Rice, Melissa J. Green, Janice M. Fullerton, 2020, medRxiv.

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.

J. Vincent, T. Ashizawa, M. Pandolfo, 2004, American journal of human genetics.

Investigation of the genetic interaction between BDNF and DRD3 genes in suicidical behaviour in psychiatric disorders

S. Djurovic, O. Andreassen, J. Vincent, 2015, The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry.

The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls.

Melissa J. Green, Janice M. Fullerton, Robert C. Thompson, 2019, Biological psychiatry.

Common variant at 16p11.2 conferring risk of psychosis

Janice M. Fullerton, M. Pirinen, H. Stefánsson, 2014, Molecular Psychiatry.

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

J. Vincent, R. Abou Jamra, J. Gleeson, 2016, American journal of human genetics.

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

S. Scherer, A. C. Lionel, C. Marshall, 2015, Human mutation.

Narrow-sense heritability estimation of complex traits using identity-by-descent information

Ross M. Fraser, Alan M. Kwong, Shane A. McCarthy, 2018, Heredity.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Stephen J. Guter, D. Pinto, S. Scherer, 2011, Human Genetics.