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Rosanna Weksberg

Title: Clinical Geneticist, Division of Clinical and Metabolic Genetics
Designations: MD, PhD
Alternate Contact Name: Khadine Wiltshire
Alternate Phone: 416-813-6386
Alternate Email:
U of T Positions: Professor, Departments of Paediatrics, Molecular Genetics, Institute of Medical Sciences

Research Positions

Senior Associate Scientist
Genetics and Genome Biology


Dr. Rosanna Weksberg is a Professor of Paediatrics and Medical Genetics at The Hospital for Sick Children (SickKids) and University of Toronto. Dr. Weksberg’s current research focuses on the epigenetic basis of normal human development and the identification of epigenetic alterations associated with human disease, especially for growth and neurodevelopmental disorders. Dr. Weksberg is an Associate Editor for the American Journal of Medical Genetics and Frontiers in Genetics.


Dr. Weksberg’s research is focused on elucidating the role of epigenetics in human disease. In particular the lab is interested in exploring the impact of genetic and environmental factors on epigenetic marks and their role in human growth and neurodevelopment. Recent work highlights the study of genome–wide epigenetic variation in different normal human tissues as well as in neurodevelopmental syndromes and growth disorders. Considerable effort has also, in recent years, been directed at defining the optimal experimental systems to use for the identification of epigenetic alterations associated with human disease. Specifically these have included evaluations of various cell types, genome-wide microarray platforms, validation techniques, and bioinformatics tools. Over 200 peer-reviewed papers have been published.

Education and experience

  • 1976: PhD, Medical Biophysics, University of Toronto
  • 1978: MD, University of Toronto
  • 1981–Present: Active Staff, Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children
  • 1998–Present: Senior Associate Scientist, Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children
  • 2000–Present: Professor, Departments of Paediatrics, Molecular Genetics, Institute of Medical Sciences, University of Toronto


  • 2019: Department of Paediatrics Physician Researcher Award for Career Excellence
  • 2019: Canadian College of Medical Geneticists Founders Award for Career Achievement


  1. Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C, Stavropoulos J, Bondy CA, Hamilton J, Wodak S, Scherer SW, Schwartz CE, Weksberg R. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. BMC Med Genomics. 2013 Jan 28;6:1
  2. Castelo-Branco P, Choufani S, Mack S, Gallagher D, Zhang C, Lipman T, Zhukova N, Walker EJ, Martin D, Merino D, Wasserman JD, Elizabeth C, Alon A, Zhang L, Hovestadt V, Kool M, Jones DT, Croul S, Hawkins C, Hitzler J, Wang JC, Malkin D, Baruchel S, Dirks PB, Pfister S, Taylor MD, Weksberg R, Tabori U. Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study. Lancet Oncology. 2013 May; 14(6):534-42
  3. Choufani S, Cytrynbaum C, Chung BHY, Turinsky AL, Grafodatskaya D, Chen YA, Cohen ASA, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IFM, Lam STS, Caluseriu O, Stavropoulos DJ, Reardon W,  Mendoza-Londono R, Brudno M, Gibson WT, Chitayat D, Weksberg R. NSD1 mutations generate a genome-wide DNA methylation signature. Nature Communications 2015 Dec 22;6:10207.
  4. Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky J, Basran R, Papsin B, Stockley TL, Scherer S, Choufani S, Brudno M, Weksberg R. CHARGE and Kabuki syndromes: Unique DNA methylation signatures identify common molecular mechanisms in these clinically overlapping conditions. American Journal of Human Genetics. 2017 May 4;100(5):773-788.
  5. Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R. Wilms Tumour in Beckwith-Wiedemann Syndrome (BWS) and Loss of Methylation at Imprinting Centre 2: Revisiting Tumour Surveillance Guidelines. European Journal of Human Genetics. 2017 Sep;25(9):1031-10392017.

See a full list of Dr. Weksberg's publicationson NCBI and Google Scholar.

  • 2019–2020: Defining Epigenomic Variation in Healthy Children in the Context of Whole Genome Sequences. Weksberg R (PI), Brudno M, Strug L, Yuen R. McLaughlin Centre 
  • 2019–2021: Late Neurocognitive Deficits in ALL Survivors: DNA Methylation Biomarkers. Weksberg R (PI), Hitzler J, Spiegler B, Krull K, Ito S, Strug L, Schachar R, Guger S. Leukemia & Lymphoma Society of Canada 
  • 2018–2023: Renewal of Province of Ontario Neurodevelopmental Disorders Network (POND). Anagnostou E, Scherer S, Arnold P, Schacher R, Szatmari P, Marshall C, Nicolson R, Weksberg R (CoPI), Lerch J, Beyene J, Reitzel J, Soreni N, Edwards A, Bountra C, Manassis K, Brian J, Roberts W, Mendlowitz S,  Gorman D, Charach A,  Woodbury Smith M, Thorpe K, Ellis J, Foster J, Henkelman M, Taylor M. Ontario Brain Institute
  • 2018–2021: Impact of Gestational Diabetes on Offspring Epigenome, Adiposity, and Cardiometabolic Risk Factors. Hamilton J, Butcher D, Weksberg R (CoPI), Hanley A, Palmert M, Retnakaran R, Connelly P. Heart and Stroke Foundation 
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