Bob Stowe

MD

Affiliate Investigator, BC Children's Hospital
Associate Member, Division of Neurology, Department of Medicine, Full Member, Djavad Mowafaghian Centre for Brain Health, University of British Columbia

Our research (which depends critically on the collaborative contributions of many laboratory co-investigators and other clinician-scientists) aims to identify the major genetic alterations that confer risk of severe, treatment-resistant psychosis and co-morbid neurodevelopmental and psychiatric disorders, by identifying rare or novel, mechanistically potent genetic alterations involving brain-expressed genes, with the aim of using this information to develop precision medicine (i.e., individualized treatment based on a mechanistic understanding of disease causation). Deep clinical phenotyping, clinical chromosomal microarrays, long read whole genome and short read RNA sequencing, biochemical and immunological profiling, many bioinformatic tools, and intensive genotype-phenotype correlation are utilized to detect, filter, and prioritize rare genetic variants and deliver actionable genetic and pharmacogenomic results through psychiatric genetic counselling. We collaborate with model organism and synaptic function researchers to try to identify tractable treatment targets.

Academic Affiliations

  • Clinical Professor, Clinical Neuroscience, Department of Psychiatry, Faculty of Medicine, University of British Columbia
  • Research Theme: Brain, Behaviour & Development
  • Research Group(s): Mental Health and Behaviour; Neurodevelopmental and Neurological Disorders

Contact Information

Location

UBC Neuropsychiatry Program, 2255 Wesbrook Mall, Vancouver, British Columbia, Canada, V6T 2A1

Medical Multimorbidity in Patients with Treatment-Resistant Psychosis and Rare Copy Number Variants: A Retrospective Case Series of 24 Patients

Tyler E. Dietterich and Rose Mary Xavier and Maya L. Lichtenstein and Matthew K. Harner and Lisa Bruno and Robert Stowe and Martilias Farrell and Rita A. Shaughnessy and Jonathan S. Berg and Patrick F. Sullivan and Richard C. Josiassen

DOI: 10.1101/2025.05.13.25325400

05 / 2025

Delineating lifetime multimorbidity associated with 16p13.11 duplication: A literature review, meta-analysis, and case study

Progress in Neuro Psychopharmacology and Biological Psychiatry

Xavier, R.M. and Bian, W. and Alshammari, F. and Harner, M.K. and Dietterich, T.E. and Lichtenstein, M. and Stowe, R. and Farrell, M. and Szatkiewicz, J.P. and Shaughnessy, R.A. and Berg, J.S. and Sullivan, P.F. and Josiassen, R.C.

DOI: 10.1016/j.pnpbp.2025.111462

T74. HIGH YIELD OF DEEP PHENOTYPING AND LONG READ WHOLE GENOME SEQUENCING IN TREATMENT-RESISTANT PSYCHOSIS

European Neuropsychopharmacology

Gagan Singh and Indhu-Shree Rajan-Babu and Prescilla Carrion and William Rowell and Sanja Rogic and Mohadeseh Gharib Pour and Mike Guron and Julie MacIsaac and Agata Minor and Monica Hrynchak and Randall White and William Honer and Patrick Sullivan and Paul Pavlidis and Robert Stowe

DOI: 10.1016/j.euroneuro.2024.08.384

10 / 2024

The curious absence of psychosis in GRIN1-related neurodevelopmental disorder

European Archives of Psychiatry and Clinical Neuroscience

Colijn, M.A. and Stowe, R.M.

DOI: 10.1007/s00406-024-01796-x

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Colijn, M.A. and Carrion, P. and Poirier-Morency, G. and Rogic, S. and Torres, I. and Menon, M. and Lisonek, M. and Cook, C. and DeGraaf, A. and Thammaiah, S.P. and Neelakant, H. and Willaeys, V. and Leonova, O. and White, R.F. and Yip, S. and Mungall, A.J. and MacLeod, P.M. and Gibson, W.T. and Sullivan, P.F. and Honer, W.G. and Pavlidis, P. and Stowe, R.M.

DOI: 10.1016/j.pnpbp.2023.110888

Virtual twins for model-informed precision dosing of clozapine in patients with treatment-resistant schizophrenia

CPT: Pharmacometrics and Systems Pharmacology

Mostafa, S. and Rafizadeh, R. and Polasek, T.M. and Bousman, C.A. and Rostami-Hodjegan, A. and Stowe, R. and Carrion, P. and Sheffield, L.J. and Kirkpatrick, C.M.J.

DOI: 10.1002/psp4.13093

ASSESSING THE UTILITY OF PHARMACOGENETIC TESTING IN A COHORT WITH TREATMENT-RESISTANT SCHIZOPHRENIA OR SCHIZOAFFECTIVE DISORDER

European Neuropsychopharmacology

Natasha Verzosa and Hilary Williams and Reza Rafizadeh and Ankita Narang and Prescilla Carrion and Ric Procyshyn and Randall White and Guillaume Poirier-Morency and Sanja Rogic and Andrew Mungall and Patrick Sullivan and William Honer and Paul Pavlidis and Robert Stowe and Chad Bousman

DOI: 10.1016/j.euroneuro.2022.07.282

10 / 2022

Subjective cognitive functioning, depressive symptoms, and objective cognitive functioning in people with treatment-resistant psychosis

Cognitive Neuropsychiatry

Zumrawi, D. and Glazier, B.L. and Leonova, O. and Menon, M. and Procyshyn, R. and White, R. and Stowe, R. and Honer, W.G. and Torres, I.J.

DOI: 10.1080/13546805.2022.2108389

Progressive neurocognitive decline in schizophrenia: A diagnostic dilemma for clinicians

Schizophrenia Research

Colijn, M.A. and Torres, I.J. and Menon, M. and Howard, A. and Honer, W.G. and Stowe, R.M.

DOI: 10.1016/j.schres.2022.01.027

A 1p31.3 deletion encompassing the nuclear factor 1A gene presenting as possible temporal lobe epilepsy in association with schizoaffective disorder

Neurocase

Colijn, M.A. and Hrynchak, M. and Hrazdil, C.T. and Willaeys, V. and White, R.F. and Stowe, R.M.

DOI: 10.1080/13554794.2022.2132869

TU71. SIGNIFICANT INCIDENCE OF RARE CHROMOSOMAL AND GENOMIC SEQUENCE VARIANTS IN HIGHLY TREATMENT-RESISTANT SCHIZOPHRENIA AND SCHIZOAFFECTIVE DISORDER

European Neuropsychopharmacology

Robert Stowe and Guillaume Poirier-Morency and Sanja Rogic and Michelle Lisonek and Jessica Jun and Adrienne Elbert and Kennedy Borle and Courtney Cook and Olga Leonova and Prescilla Carrion and Chad Bousman and Monica Hrynchak and William Honer and Patrick Sullivan and Paul Pavlidis

DOI: 10.1016/j.euroneuro.2021.08.073

10 / 2021

Look Again: Mental Illness Re-examined

BC Schizophrenia Society

Aldridge, F., Cook, C., & Stowe, R. (2021, September 2021). In Schizophrenia: Nature vs. Nuture. F. Aldridge. https://www.bcss.org/lookagain/schizophrenia-nature-vs-nurture/

09 / 2021

Whole-genome sequencing analysis of clozapine-induced myocarditis

medRxiv

Narang, A. and Lacaze, P. and Ronaldson, K.J. and McNeil, J.J. and Jayaram, M. and Thomas, N. and Sellmer, R. and Crockford, D. and Stowe, R. and Greenway, S.C. and Pantelis, C. and Bousman, C.A.

DOI: 10.1101/2021.07.26.21261157

Review and Consensus on Pharmacogenomic Testing in Psychiatry

Pharmacopsychiatry

Bousman, C.A. and Bengesser, S.A. and Aitchison, K.J. and Amare, A.T. and Aschauer, H. and Baune, B.T. and Asl, B.B. and Bishop, J.R. and Burmeister, M. and Chaumette, B. and Chen, L.-S. and Cordner, Z.A. and Deckert, J. and Degenhardt, F. and Delisi, L.E. and Folkersen, L. and Kennedy, J.L. and Klein, T.E. and McClay, J.L. and McMahon, F.J. and Musil, R. and Saccone, N.L. and Sangkuhl, K. and Stowe, R.M. and Tan, E.-C. and Tiwari, A.K. and Zai, C.C. and Zai, G. and Zhang, J. and Gaedigk, A. and Mller, D.J.

DOI: 10.1055/a-1288-1061

First Whole Transcriptome RNAseq on CHD8 Haploinsufficient Patient and Meta-Analyses Across Cellular Models Uncovers Likely Key Pathophysiological Target Genes

Cureus

Heba Yasin and Robert Stowe and Chi Kin Wong and Puthen Veettil Jithesh and Farah R Zahir

DOI: 10.7759/cureus.11571

11 / 2020

Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

Schizophrenia Research

Matthew K. Harner and Maya Lichtenstein and Martilias Farrell and Tyler E. Dietterich and Dawn M. Filmyer and Lisa M. Bruno and Tamara F. Biondi and James J. Crowley and Gabriel L{\'{a}}zaro-Mu{\~{n}}oz and Robert Stowe and Rita A. Shaughnessy and Jonathan S. Berg and Jin Szatkiewicz and Patrick F. Sullivan and Richard C. Josiassen}, title = {Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome}, journal = {Schizophrenia Research

DOI: 10.1016/j.schres.2020.08.012

09 / 2020

Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations

Molecular Genetics and Metabolism

Horvath, G.A. and Stowe, R.M. and Ferreira, C.R. and Blau, N.

DOI: 10.1016/j.ymgme.2020.02.007

Preliminary examination of the validity of the NIH toolbox cognition battery in treatment-resistant psychosis

Clinical Neuropsychologist

Cassetta, B.D. and Menon, M. and Carrion, P.B. and Pearce, H. and DeGraaf, A. and Leonova, O. and White, R.F. and Stowe, R.M. and Honer, W.G. and Woodward, T.S. and Torres, I.J.

DOI: 10.1080/13854046.2019.1694072

F104CHROMOSOMAL MICROARRAYS IMPLICATE GENES REGULATING DENDRITOGENESIS " POTENTIAL IMPLICATIONS FOR PRECISION MEDICINE IN BIPOLAR DISORDER AND SCHIZOPHRENIA

European Neuropsychopharmacology

Robert Stowe and Pedram Laghaei and Prescilla Carrion and Agata Minor and Christine Tyson and Ashley DeGraaf and William Honer and Patrick MacLeod and Harish Neelekant and Randall White and Monica Hrynchak

DOI: 10.1016/j.euroneuro.2018.08.184

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

Journal of Human Genetics

Yasin, H. and Gibson, W.T. and Langlois, S. and Stowe, R.M. and Tsang, E.S. and Lee, L. and Poon, J. and Tran, G. and Tyson, C. and Wong, C.K. and Marra, M.A. and Friedman, J.M. and Zahir, F.R.

DOI: 10.1038/s10038-019-0561-0

SA115THE UBC MAGERS STUDY OF SEVERELY TREATMENT-RESISTANT PSYCHOSIS: CHROMOSOMAL MICROARRAY FINDINGS IN THE FIRST 25 CASES

European Neuropsychopharmacology

Robert Stowe and Monica Hrynchak and Agata Minor and Christine Tyson and Prescilla Carrion and Ashley DeGraaf and Pedram Laghaei and Olga Leonova and Mahesh Menon and Ivan Torres and Veerle Willaeys and Randall White and Clara Westwell-Roper and Clare Beasley and William Honer

DOI: 10.1016/j.euroneuro.2018.08.337

Developmental delay, treatment-resistant psychosis, and early-onset dementia in a man with 22q11 deletion syndrome and huntington's disease

American Journal of Psychiatry

Farrell, M. and Lichtenstein, M. and Crowley, J.J. and Filmyer, D.M. and Lzaro-Muoz, G. and Shaughnessy, R.A. and Mackenzie, I.R. and Hirsch-Reinshagen, V. and Stowe, R. and Evans, J.P. and Berg, J.S. and Szatkiewicz, J. and Josiassen, R.C. and Sullivan, P.F.

DOI: 10.1176/appi.ajp.2017.17060638

Liver transplant can resolve severe neuropsychiatric manifestations of wilson disease: A case report

Experimental and Clinical Transplantation

Walker, G. and Hussaini, T. and Stowe, R. and Cresswell, S. and Yoshida, E.M.

DOI: 10.6002/ect.2016.0053

Improved strength on 5-hydroxytryptophan and carbidopa in spinal cord atrophy

Journal of the Neurological Sciences

Horvath, G.A. and Meisner, L. and Selby, K. and Stowe, R. and Carleton, B.

DOI: 10.1016/j.jns.2017.04.047

Left hemispatial neglect

Casebook of Neuropsychiatry

Dementia syndrome of depression

Casebook of Neuropsychiatry

Secondary obsessive-compulsive disorder associated with pallidal lesions

Casebook of Neuropsychiatry

Psychosis and cognitive impairment in an adolescent

Casebook of Neuropsychiatry

Knife in the Head: German social realism meets Cinema Verit

Senses of Cinema [online journal]

A case of persistent visual hallucinations of faces following LSD abuse: A functional Magnetic Resonance Imaging study

Neurocase

Iaria, G. and Fox, C.J. and Scheel, M. and Stowe, R.M. and Barton, J.J.S.

DOI: 10.1080/13554790903329141

Serious neurological complications of valproate therapy

BC Mental Health & Addiction Services Psychopharmacology Newsletter

Classification images of two right hemisphere patients: A window into the attentional mechanisms of spatial neglect

Brain Research

Shimozaki, S. and Kingstone, A. and Olk, B. and Stowe, R. and Eckstein, M.

DOI: 10.1016/j.brainres.2006.01.033

Neuropsichiatria I disturbi del comportamento tra neurologia e psichiatria

Masson

DOI: 10.1007/s10072-004-0359-4

12 / 2004

Neuropsichiatria dei disturbi psicotici

Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed

Principi generali di valutazione e diagnosi Neuropsichiatria

Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed.

Neuropsichiatria dei disturbi dansia

Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed.

Alterazioni della personalit associate a lesioni cerebrali

Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed.

Funzioni neuropsicologiche ed esame dello stato mentale

Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed.

Current concepts of the pathophysiology of catatonia

Canadian Psychiatric Association Bulletin

Stowe, R. M. (2002). Current concepts of the pathophysiology of catatonia. Canadian Psychiatric Association Bulletin, 34(1), 22-24.

02 / 2002

Post-traumatic stress disorder

Encyclopedia of the Life Sciences

Accuracy of four clinical diagnostic criteria for the diagnosis of neurodegenerative dementias

Neurology

DOI: 10.1212/wnl.53.6.1292

10 / 1999

I disturbi del comportamento tra neurologia e psichiatria. Basi neurobiologiche e sindromi cliniche [The neurology and psychiatry of behavioral disorders: Neurobiological basis and clinical syndromes]

Italian Journal of Neurological Sciences

Blundo, C. and Stowe, R.

Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C.

Developmental medicine and child neurology

PubMed: 9489503

02 / 1998

Poststroke depression and anxiety: Different assessment methods result in variations in incidence and severity estimates

Journal of Clinical and Experimental Neuropsychology

Schramke, C.J. and Stowe, R.M. and Ratcliff, G. and Goldstein, G. and Condray, R.

DOI: 10.1076/jcen.20.5.723.1117

Neuropsichiatria dellaggressivit

I disturbi del comportamento tra neurologia e psichiatria: basi neurobiologiche e sindromi cliniche

Assessment Methods in Behavioral Neurology and Neuropsychiatry

Neuropsychology

DOI: 10.1007/978-1-4899-1950-2_20

Psychosis as a presentation of physical disease in adolescence: A case of Niemann-Pick disease, type C

Developmental Medicine and Child Neurology

Campo, J.V. and Stowe, R. and Slomka, G. and Byler, D. and Gracious, B.

DOI: 10.1111/j.1469-8749.1998.tb15374.x

Principi di valutazione dei disturbi neuropsicologici e neuropsichiatrici

I disturbi del comportamento tra neurologia e psichiatria: basi neurobiologiche e sindromi cliniche

Neuropsichiatria dei disturbi d'ansia

I disturbi del comportamento tra neurologia e psichiatria: basi neurobiologiche e sindromi cliniche

I disturbi del comportamento tra neurologia e psichiatria: basi neurobiologiche e sindromi cliniche

Masson

Phonological Dyslexia: Loss of a Reading-specific Component of the Cognitive Architecture?

Cognitive Neuropsychology

DOI: 10.1080/026432996381836

09 / 1996

Impulse control

Handbook of Aggressive and Destructive Behavior in Psychiatric Patients

DOI: 10.1007/978-1-4615-2403-8

Tardive dyskinesia associated with use of metoclopramide in a child

The Journal of Pediatrics

Putnam, P.E. and Orenstein, S.R. and Wessel, H.B. and Stowe, R.M.

DOI: 10.1016/S0022-3476(05)80357-9

THE COMPORTMENTAL LEARNING DISABILITIES OF EARLY FRONTAL LOBE DAMAGE

Brain

DOI: 10.1093/brain/113.5.1383

Syringomyelia

Current Therapy in Neurological Disease

MAGERS (Metabolic and Genetic Explorations in Refractory Schizophrenia)

The MAGERS (Metabolic and Genetic Explorations in Refractory Schizophrenia) study (Robert Stowe, P.I; Precilla Carrion, Co-Project Lead) is a multi-layered clinical. "-omics", and genetic counselling research project that recruited 50 inpatient participants from the tertiary provincial BC Psychosis Unit at UBC Hospital suffering from highly treatment-resistant schizophrenia or schizoaffective disorder. Detailed clinical phenotyping included M.I.N.I psychiatric interviews and multidisciplinary consensus DSM-5 diagnosis, structured birth and childhood trauma histories, neurocognitive assessments, and neurological and dysmorphological examinations.

At entry, intensive biochemical screening for inborn errors of metabolism (IEMs) associated with psychosis was performed (Dr. Graham Sinclair), and clinical chromosomal microarrays were performed in the Royal Columbian Hospital Molecular Cytogenetics Laboratory. DNA and RNA extraction at RCH and in Dr. Michael Kobor’s laboratory was followed by long-read whole genome (PacBio HiFi) sequencing and peripheral blood RNA-Seq (Illumina HiSeq/NovaSeq). Exonic variant prioritization (Pavlidis lab, Indhu Shree Rajan Babu) has been completed, and noncoding variant and RNA analyses are underway. Pharmacogenetic (PGx) variants have been identified and correlated with medication profiles (Dr. Chad Bousman, University of Calgary). Clinically actionable results from CMAs, WGS, and PGx analyses are being returned to care providers, and to patients and families, through psychiatric genetic counselling (the impact of which is also being assessed as a research outcome).

Whole blood, peripheral blood mononuclear cells, serum, plasma, and urine on participants were collected and stored in Drs. Fabio Rossi and Michael Kobor’s labs. A cytokine and inflammatory marker panel has been performed on 25 cases (Dr. Clare Beasley). Proteomics and mass cytometry will be conducted if funding can be secured. Epigenetic analyses and polygenic risk (PRS) and pharmogenic enrichment (PES) scoring are underway in Dr. Murray Cairns’ lab at the University of Newcastle. Translational collaborations include rare variant-focused modelling in iPSCs (Dr. Mahmoud Pouladi; Dr. Michael Ziiller’s lab in Munster), in neurons and model organisms (in labs studying synaptic function), and in Drosophila models (Dr. Douglas Allan, DMCBH).

The main aim of the MAGERS study is to identify potent genomic and epigenomic risk variants indexing key mechanistic derangements driving psychosis in affected individuals, and indexing tractable treatment targets (such as ion channels, neurotransmitter systems, chromatin modifiers, and synaptic and dendritic function and plasticity, and major cellular and immunomodulatory pathways) that can be used to develop precision medicine for psychosis.

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