Faculty profile

Rosanna Weksberg

ResearcherGenetics and Genome BiologyUniversity of Toronto

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of Toronto directory, so their courses and email address may be missing. Find their university profile.

Rosanna Weksberg

Researcher

Genetics and Genome Biology

Health Sciences

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
49 publications in the last five years, latest in 2026.
Senior (last) author on 16 recent papers, a sign of leading a research group.
Principal investigator on 8 research grants (7 CIHR, 1 NSERC), most recently in 2025.
Supervisor on 2 trainee awards (2 CIHR), most recently in 2010.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

177

Publications

10,159

Citations

109

Collaborators

Grants

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

Profiles and links

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Signals and details

Research

Dna Methylation Neurodevelopmental Disorders Precision Medicine Intellectual Disability Clinical Diagnostics Dna Methylation Signature Episignature Long-Read Sequencing

Latest papers

Transdiagnostic Behavioral Phenotypes and Comorbid Gastrointestinal Symptoms in Neurodevelopmental Disorders: An Exploratory Study
Autism Research · 2026
Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures
American Journal of Human Genetics · 2026
Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.
European journal of human genetics : EJHG · 2026 · senior author

All 177 publications

Latest funding

EpigenCentralDx: A commercial-ready suite of AI-based classifiers for clinical diagnostic testing of neurodevelopmental disorders
CIHR · 2025 · Nominated PI
$765,000
Genetic modifiers of chemotherapy-induced neurotoxicity identified in recombinant inbred mice
CIHR · 2024 · Co-investigator
$1,105,426
Determining the mechanisms underlying disease pathology in Kabuki syndrome
CIHR · 2021 · Nominated PI
$883,576

All 18 grants and awards

From the 150 most recent of 177 publications.

Transdiagnostic Behavioral Phenotypes and Comorbid Gastrointestinal Symptoms in Neurodevelopmental Disorders: An Exploratory Study

Cleary S, Asbury S, Schachar RJ, Crosbie J, Nicolson R, Weksberg R, Kelley E, Jones J, Ayub M, Georgiades S

Autism Research20263 citations

DOI: 10.1002/aur.70143

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures

Reko N, Torabi-Marashi A, Kallurkar P, Goodman SJ, Awamleh Z, Turinsky AL, Grafodatskaya D, Russell BE, Chong K, Ko JM

American Journal of Human Genetics2026

DOI: 10.1016/j.ajhg.2026.06.017

Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.

Chen A, Jain M, Baribeau D, Gibson WT, Deardorff MA, Alkuraya FS, Ortigoza-Escobar JD, Nimmo G, Scherer SW, Choufani S, Goodman SJ, Weksberg R

European journal of human genetics : EJHG2026Senior author

DOI: 10.1038/s41431-026-02199-3 PMID: 42527582

Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis.

Hildonen M, Mariani L, Dalsberg J, Bak M, Weksberg R, Choufani S, Tümer Z

Clinical genetics2026

DOI: 10.1111/cge.70108 PMID: 41225292

The "route cause" of methotrexate-induced brain structure changes in a juvenile mouse model: Comparison of systemic and CNS-targeted chemotherapy.

Choi SE, Ayoub T, Lee G, Wheeler AL, Guger SL, Weksberg R, Ito S, Schachar RJ, Hitzler J, Nieman BJ

Neurotoxicology2026

DOI: 10.1016/j.neuro.2025.103363 PMID: 41386426

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Wang M, Helal S, Torabi-Marashi A, Goodman S, Kallurkar P, Truong TK, Mizrahi-Powell E, Evrony GD, Chacon-Fonseca I, Valenzuela Palafoll I, Kannu P, Piton A, Chitayat D, Boerkoel CF, Mendoza-Londono R, Ortigoza-Escobar JD, Kwint M, Rots D, Kleefstra T, Wojcik MH, Scherer SW, Hon-Yin Chung B, Ko JM, Bjornsson HT, Harris JR, Choufani S, Weksberg R

American journal of human genetics2026Senior author

DOI: 10.1016/j.ajhg.2026.04.010 PMID: 42134323

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.

Acosta Bedón A, Akbari V, Rothstein R, Inman A, Bhalla S, An J, Friedman JM, Weksberg R, Boerkoel C, Jones SJM, Gibson WT

American journal of medical genetics. Part A2026

DOI: 10.1002/ajmga.70008 PMID: 41386740

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Awamleh Z, Chen A, Choufani S, Rots D, Ko JM, Armour CM, Nowaczyk MJM, Hurst ACE, Gibson WT, Misceo D, Frengen E, Strømme P, Soliani L, McNiven V, Alkhunaizi E, Invernizzi F, Fernandes S, Sousa S, Amoros I, Scherer SW, Kwint M, Bienvenu T, Garavaglia BM, Ortigoza-Escobar JD, Weksberg R

Genetics in medicine : official journal of the American College of Medical Genetics2026Senior author

DOI: 10.1016/j.gim.2026.102636 PMID: 42318777

DNA methylation alterations in acute lymphoblastic leukemia survivors with late neurocognitive deficits.

Goodman SJ, Butcher DT, Guger SL, Diehl E, Brzezinski J, Spiegler B, Nieman BJ, Kallurkar P, Boulet Craig A, Krajinovic M, Laniel J, Laverdière C, Sinnett D, Lippé S, Turinsky A, Shago M, Strug LJ, Ito S, Hitzler JK, Schachar R, Weksberg R

Leukemia2025Senior author

DOI: 10.1038/s41375-025-02779-0 PMID: 41107616

Il-6 knockout reduces doxorubicin-induced toxicity in the developing mouse brain.

Yeung J, Quach H, Wong AP, Wheeler AL, Weksberg R, Guger SL, Schachar RJ, Ito S, Hitzler J, Nieman BJ

Brain, behavior, and immunity2025

DOI: 10.1016/j.bbi.2025.06.034 PMID: 40588079

EpigenCentralDx: A commercial-ready suite of AI-based classifiers for clinical diagnostic testing of neurodevelopmental disorders

Nominated PICIHR2025Project Grant

Principal investigators: Weksberg, Rosanna

Keywords: Clinical Diagnostics; Dna Methylation Signature; Episignature; Long-Read Sequencing; Machine Learning Based Classifiers; Neurodevelopmental Disorders; Precision Medicine; Rare Disease; Variant Of Uncertain Significance

$765,000

Genetic modifiers of chemotherapy-induced neurotoxicity identified in recombinant inbred mice

Co-investigatorCIHR2024Project Grant

Principal investigators: Nieman, Brian J

Keywords: Brain Health; Chemotherapy; Childhood Cancer; Genetics; Mouse Models; Neuroimaging; Side Effects; Survivorship

$1,105,426

Determining the mechanisms underlying disease pathology in Kabuki syndrome

Nominated PICIHR2021Project Grant

Principal investigators: Weksberg, Rosanna

Keywords: Chromatin Regulation; Crispr Editing; Disease Mechanism; Dna Methylation; Functional Epigenomics; Ipsc; Ipsc Derived Neurons; Mouse Model; Neurodevelopmental Disorders; Precision Medicine

$883,576

Chronic Obstructive Bladder Disease: Persistent Smooth Muscle Responses to the Damaged Microenvironment

Co-investigatorCIHR2020Project Grant - PA: Epigenetics/epigenomics in human health or disease

Principal investigators: Bagli, Darius J

Keywords: Bladder Obstruction; Chronic Obstructive Bladder Disease Cobd; Dna Methylation; Epigenetics; Histone Modification; Micro Rnas; Pearson Physiology Correlation; Regeneration; Single Cell Rnaseq

$100,000

Early prediction of developmental outcomes: a prospective study of infants with high-impact genetic risk variants

Co-investigatorCIHR2018Project Grant

Principal investigators: Vorstman, Jacob A

Keywords: Autism; Early Detection; Intellectual Disability; Neurodevelopmental Disorders; Rare Genetic Risk Variants

$688,500

Translating DNA methylation-based signatures into molecular diagnostics for human epigenomic disorders

Nominated PICIHR2017Operating Grant: Impact Grant : CEEHRC Phase II

Principal investigators: Weksberg, Rosanna

Keywords: Complex Human Disease Stratification; Diagnostic Platform; Dna Methylation Signatures; Epigenes; Epigenomic Disorders; Illumina Infinium Epic Beadchip; Methyl Capture Sequencing; Nonsynonymous Single Nucleotide Variants; Pathogenic Mutations; Research Translation

$596,048

EpigenCentral: Consolidated epigenetic landscape for congenital, developmental and childhood disorders.

Co-investigatorCIHR2016Operating Grant: Bioinformatics and Computational Biology

Principal investigators: Brudno, Michael

Keywords: Bioinformatics

$132,323

Implementation and Commercialization of a Novel DNA Methylation-Based Diagnostic Tool

Nominated PICIHR2015Proof of Principle Program - Phase I

Principal investigators: Weksberg, Rosanna

Keywords: Dna Methylation; Epigenetic Regulator; Human Overgrowth; Human Undergrowth; Intellectual Disability; Novel Diagnostic Testing

$160,000

Genomes to Outcomes in Autism Spectrum Disorders

Co-investigatorCIHR2014Foundation Grant

Principal investigators: Scherer, Stephen W

Keywords: Autism Spectrum Disorders; Diagnostics; Individualized Treatment; Variants; Whole Genome Sequencing

$2,204,199

Epigenetic regulation of bladder response to obstruction

Co-investigatorCIHR2013Operating Grant

Principal investigators: Bagli, Darius J

Keywords: Bladder; Dna Methylation; Epigenetics; Mechanotransduction; Pcr Array; Pyrosequencing; Signalling; Smooth Muscle; Urology

$828,369

From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.

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Rosanna Weksberg

Research

Latest papers

Latest funding

Transdiagnostic Behavioral Phenotypes and Comorbid Gastrointestinal Symptoms in Neurodevelopmental Disorders: An Exploratory Study

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures

Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.

Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis.

The "route cause" of methotrexate-induced brain structure changes in a juvenile mouse model: Comparison of systemic and CNS-targeted chemotherapy.

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

DNA methylation alterations in acute lymphoblastic leukemia survivors with late neurocognitive deficits.

Il-6 knockout reduces doxorubicin-induced toxicity in the developing mouse brain.

Frequent collaborators

David Chitayat

Daria Grafodatskaya

Evdokia Anagnostou

Peter Szatmari

Michael Brudno

Peter Szatmari

Shinya Ito

Johann Hitzler

Gregory Costain

David Malkin

Uri Tabori

Lonnie Zwaigenbaum

Russell Schachar

Stelios Georgiades

John Kingdom

Cynthia Hawkins

Adam Shlien

Jill Hamilton

Lauren Chad

Jennifer Crosbie

Abdul Noor

Eric Bouffet

Jessica Brian

Elizabeth Kelley

Sarah Bowdin

Peter Kannu

Mayada Elsabbagh

Nada Jabado

David Dyment

Jane Foster

Mark Tarnopolsky

Resham Ejaz

Martin Post

Jason Lerch

Gelareh Zadeh

Rima Slim

Stephen Scherer

James Ellis

Andy Willan

Deborah Marshall