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Cheryl Cytrynbaum

Title: Genetic Counsellor, Department of Genetic Counselling
Designations: M.S., CGC
U of T Positions: Assistant Professor, Department of Molecular Genetics


Cheryl is an ABGC certified genetic counsellor who completed her Master of Science in Medical genetics at the University of Wisconsin-Madison in 1990. She joined the Department of Genetic Counselling at SickKids in 1991 working within the Division of Clinical and Metabolic Genetics. Cheryl is an Assistant Professor in the Department of Molecular Genetics and clinical supervisor in the MSc Genetic Counselling Program at the University of Toronto. She holds a Project Director appointment at SickKids Research Institute based on her involvement in clinical research and supervision of graduate students. Cheryl has a special interest in 22q11 Deletion Syndrome, overgrowth syndromes, epigenetics and knowledge translation. 


The role of epigenetics in human development as it relates to genetic syndromes is Cheryl’s primary research interest.  Her current research collaborations focus on understanding epigenetic mechanisms and utilizing this knowledge to advance diagnosis, management and potential therapeutic interventions for individuals with conditions resulting from epigenetic dysregulation. 

Cheryl is also interested in 22q11 deletion syndrome (22q11DS) and the development of strategies to enhance the medical and psychosocial management for individuals with 22q11DS. 


  • 1988: Bachelor of Science, Human Genetics, McGill University, Montreal, Quebec 
  • 1990: Master of Science in Medical Genetics, University of Madison-Wisconsin, Madison WI 


  • 19901991: Genetic Counsellor, Department of Genetics, Chedoke-McMaster Hospital, Hamilton, Ontario                     
  • 1991Present: Genetic Counsellor, Division of Clinical and Metabolic Genetics/Department of Genetic Counselling, Hospital for Sick Children, Toronto, Ontario 


  1. Epigenetic signatures in overgrowth syndromes: Translational opportunities. Cytrynbaum C, Choufani S, Weksberg R.Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):491-501.  
  2. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. 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 JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R.Am J Hum Genet. 2017 May 4;100(5):773-788 *Co-first authors
  3. Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. Hoang N, Cytrynbaum C, Scherer SW.Patient Educ Couns. 2018 Feb;101(2):352-361. 
  4. Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome. Cytrynbaum C, Chong K, Hannig V, Choufani S, Shuman C, Steele L, Morgan T, Scherer SW, Stavropoulos DJ, Basran RK, Weksberg R.Am J Med Genet A. 2016 Oct;170(10):2731-9.  
  5. An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome. Shugar AL, Shapiro JM, Cytrynbaum C, Hedges S, Weksberg R, Fishman L.Am J Med Genet A. 2015 Jul;167(7):1560-4. doi: 10.1002/ajmg.a.37064. Epub 2015 May 5.PMID: 25944702 

See all of Cheryl Cytrynbaum's publications on PubMed.

  • Modelling Human Claudin5 Mutations in Zebrafish. 
    Principal Investigator: Dowling J. Collaborators: Dewar 
    A, Weksberg R, Cytrynbaum C. Rare Diseases: Models 
    and Mechanisms Network. $25,000 CAD. Operating 
    grant  (2018-2019) 
  • Translating DNA methylation-based signatures into 
    molecular diagnostics for human epigenomic disorders. 
    Canadian Institutes of Health Research. Principal 
    Investigator: Weksberg R. Collaborators: Choufani S, Siu 
    M, Brudno M, Cytrynbaum C. Turinsky A, Stavropoulos J, 
    Grafodatskaya D, Gibson W.  $604,527 CAD. Operating 
    Grant (2017-2020)
  • Implementation and commercialization of a novel DNA 
    methylation-based Diagnostic tool. Canadian Institutes of 
    Health Research. Principal Investigator: Weksberg R. 
    Collaborators: Basran R, Cytrynbaum C, Choufani S, Brudno M. $160,000 CAD. Proof of principle grant (2015-2016)
  • Gene discovery for syndromic intellectual disability by exome sequencing. McLaughlin Centre. Principal Investigator: Weksberg R. Collaborators: Anagnostou E, Cytrynbaum C. $50,000 CAD. Operating grant (2013-2014)
  • Identification of molecular subtypes of 
    intellectual disability using unique epigenetic signatures. 
    Canadian Institutes of Health Research. Principal 
    Investigator: Weksberg R. Collaborators: Chitayat D, 
    Cytrynbaum C. $954,923 CAD. Operating grant (2012- 
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