Jacob Vorstman

University of Toronto — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

54h-index16.1kcitations248works2.32yr avg
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Research Topics

Congenital heart defects research(110), Autism Spectrum Disorder Research(75), Genomic variations and chromosomal abnormalities(68), Genetics and Neurodevelopmental Disorders(63), Congenital Heart Disease Studies(43)

Publications245 total

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome
2026Open Access
Does genetic testing impact stigma in autism: A scoping review
Journal of Community Genetics·2026· 1 citedOpen Access
Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review
American Journal of Medical Genetics Part B Neuropsychiatric Genetics·2025Open Access
A Multi-Task LLM Framework for Multimodal Speech-Based Mental Health Prediction
2025
Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autism
2025· 1 citedOpen Access
M30. TRANSLATING GENOME-WIDE SIGNIFICANCE FOR LOW-FREQUENCY VARIANTS IMPROVES LOCUS DISCOVERY AND BIOLOGICAL INSIGHTS
European Neuropsychopharmacology·2025
24.4 Genetics in Child Psychiatry: A Door to Precision Medicine
Journal of the American Academy of Child & Adolescent Psychiatry·2025
THE CLINICAL AND SCIENTIFIC VALUE OF GENETICS IN CHILD PSYCHIATRY
Journal of the American Academy of Child & Adolescent Psychiatry·2025
EAGLE-AI: A large language model workflow for automated extraction and scoring of literature evidence linking genes to autism spectrum disorder
2025Open Access
Variants in <i>DENND2B</i> are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
Brain·2025· 1 citedOpen Access
Speech as a Multimodal Digital Phenotype for Multi-Task LLM-based Mental Health Prediction
arXiv (Cornell University)·2025Open Access
Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology
Biological Psychiatry Cognitive Neuroscience and Neuroimaging·2025· 1 citedOpen Access
Smartphone-based Monitoring and cognition Modification Against Recurrence of Depression (SMARD): An RCT of Memory Bias Modification Training vs. Cognitive Control Training vs. Attention Bias Modification Training in remitted recurrently depressed patients with 1.5 year follow-up
BMC Psychiatry·2025· 2 citedOpen Access
Genomic and Developmental Models to Predict Cognitive and Adaptive Outcomes in Autistic Children
JAMA Pediatrics·2025· 5 citedOpen Access
72. Hidden in Plain Sight: The Role of Low-Frequency Variants in Autism and Genome Regulation
Biological Psychiatry·2025
343. Fasoracetam for Neuropsychiatric Symptoms in Children and Adolescents With 22q11.2 Deletion Syndrome: A Randomized Crossover Phase II Clinical Trial
Biological Psychiatry·2025
119. Using Smartphone Technology to Detect Mood Episodes and Symptoms in Young Individuals Living With Bipolar Disorder
Biological Psychiatry·2025
120. Digital Phenotyping Using Passive Monitoring Technology to Detect Changes in Symptoms in Individuals With Depressive and Bipolar Disorders: A Systematic Review
Biological Psychiatry·2025
75. Investigation of Compound Heterozygous Events Involving Deletions and Sequence-Level Variants in Autism Etiology
Biological Psychiatry·2025
41. Variants in DENND2B Are Associated With Vulnerability for Neurodevelopmental Impairment, Psychosis and Catatonia
Biological Psychiatry·2025
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Frequent Co-authors

Donna M. McDonald‐McGinn(16), Anne S. Bassett(16), Carrie E. Bearden(14), Raquel E. Gur(13), Thérèse van Amelsvoort(13), Ann Swillen(12), Beverly S. Emanuel(11), Marianne van den Bree(11), Wendy R. Kates(11), Michael J. Owen(10), Eva W.C. Chow(9), Sasja N. Duijff(9), Elemi Breetvelt(9), Stéphan Eliez(9), Ania Fiksinski(9), Elaine H. Zackai(8), Christian R. Marshall(8), Maude Schneider(8), Kieran C. Murphy(8), Doron Gothelf(8)