John B. Vincent

Centre for Addiction and Mental Health — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

61h-index22.0kcitations267works6.32yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(95), Genetic Associations and Epidemiology(41), Genomic variations and chromosomal abnormalities(40), Autism Spectrum Disorder Research(32), Genomics and Rare Diseases(29)

Publications240 total

MeCP2 NID interaction with RNA: Implications for Rett Syndrome-Relevant Protein Regulation
2025Open Access
Dedication to the Retirement of Forrest Nielsen
Biological Trace Element Research·2025Open Access
M50. DISRUPTION OF MAJOR PTCHD1 ISOFORMS CAUSES AUTISTIC TRAITS IN SOCIAL BEHAVIOR AND COMMUNICATION
European Neuropsychopharmacology·2025
Computational screening of antiviral candidates for Monkeypox virus DNA polymerase and A42R protein
PLoS neglected tropical diseases·2025· 2 citedOpen Access
Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking
Biological Psychiatry Global Open Science·2025· 2 citedOpen Access
Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental Disorders
2025· 3 citedOpen Access
The role of amylin, a gut–brain axis hormone, in metabolic and neurological disorders
FASEB BioAdvances·2025· 2 citedOpen Access
Multifaceted roles of MeCP2 in cellular regulation and phase separation: implications for neurodevelopmental disorders, depression, and oxidative stress
Biochemistry and Cell Biology·2025· 6 citedOpen Access
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent <i>CDK6</i> variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.
PubMed·2025
Association of NTRK2 gene with suicidality: a meta-analysis
Psychiatric Genetics·2024· 1 citedOpen Access
CONTRIBUTION OF COMMON AND RARE VARIANTS TO SCHIZOPHRENIA RISK IN EAST AND SOUTH ASIAN ANCESTRIES
European Neuropsychopharmacology·2024
Identification of Antiviral Drug Candidates Against Monkeypox DNA Polymerase and Profilin-like Protein A42R Utilizing an <i>In-Silico</i> Approach
2024Open Access
Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms
Human Molecular Genetics·2024· 1 citedOpen Access
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
UNC Libraries·2024Open Access
Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder
Scientific Reports·2024· 5 citedOpen Access
Autism-associated PTCHD1 missense variants bind to the SNARE-associated protein, SNAPIN, but exhibit impaired subcellular trafficking
2024Open Access
Genetic influences on sibling bullying and mental health difficulties
Journal of Child Psychology and Psychiatry·2024· 4 citedOpen Access
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability
Cells·2024· 8 citedOpen Access
Interplay between polygenic risk for mood disorders and stressful life events in bipolar disorder
Journal of Affective Disorders·2024· 4 citedOpen Access
P660: Functional analysis of X-linked dyskeratosis congenita gene (DKC1) showed altered nucleolar localization and post-translational modification
Genetics in Medicine Open·2024Open Access
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Frequent Co-authors

Abdul Noor(15), Muhammad Ayub(11), Stephen W. Scherer(10), John S. Strauss(8), James L. Kennedy(8), Muhammad Rafiq(7), Christian Windpassinger(7), Laura J. Scott(6), Wendy Roberts(6), Pierandrea Muglia(6), Anath C. Lionel(5), Federica Tozzi(5), Anne Farmer(5), Peter McGuffin(5), Muhammad Ansar(5), Farooq Naeem(5), Carlos N. Pato(4), Michele T. Pato(4), Christian R. Marshall(4), Michael Boehnke(4)