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About Sickkids
About SickKids

Rosanna Weksberg, MD, PhD

The Hospital for Sick Children
Staff Physician
Clinical and Metabolic Genetics

Co-director and Staff Geneticist
Cancer Genetics Program

Research Institute
Senior Associate Scientist
Genetics & Genome Biology

University of Toronto
Molecular and Medical Genetics


Phone: 416-813-6386
e-mail: rweksb@sickkids.ca

For more information, visit:

Weksberg Lab
Cancer Genetics Program

Brief Biography

Dr. Rosanna Weksberg is actively involved in many University of Toronto and national initiatives in genetics and epigenetics. Her research interfaces between clinical genetics assessments on patients and molecular genetic approaches to understanding imprinting and epigenetic lesions in the development of genetic syndromes and sporadic cancers.

Research Interests

  • Genomic imprinting
  • Overgrowth syndromes
  • Epigenetics
  • Assisted Reproductive Technologies

Research Activities

Epigenetics, Genomic Imprinting and Human Disease . Weksberg's research program centres on the epigenetic analysis of individuals with growth and neurodevelopmental disorders, such as Beckwith-Wiedemann syndrome (BWS), intrauterine growth restriction (IUGR) and Autism. Her team has recently utilized tissues of uniparental origin to identify new human imprinted genes. Their investigation of chromosome 11p15 in BWS patients has demonstrated that single locus imprinting alterations are associated with genome-wide epigenetic alterations.  Further, such genome-wide disruptions of epigenetic regulation are enhanced following infertility and the use of assisted reproductive technologies (ART). The mechanisms underpinning this observation are currently being explored in the lab.   


Chung B, Stavropoulos J, Marshall C, Weksberg R, Stephen Scherer, Yoon G. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, post-natal microcephaly and distinct facial features. American Journal of Medical Genetics. In Press. C

Rajendram R, Ferreira JC, Grafodatskaya D, Choufani S, Chiang T, Pu S, Butcher DT, Wodak S, Weksberg R.  Assessment of methylation level prediction accuracy in Methyl-DNA immunoprecipitation (MeDIP-CGI) and sodium bisulfite (BIS-Me) based microarray platforms. Epigenetics.  In Press. SRA

Shuman C, Weksberg R. Beckwith-Wiedemann Syndrome in: GeneReviews at GeneTests: Medical genetics information resource [database online]. Copyright, University of Washington, Seattle, www.genetests.org. 2010.  SRA

Cheung AY, Horvath LM, Grafodatskaya D, Pasceri P, Weksberg R, Hotta A, Carrel L, Ellis J.  Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.  Hum Mol Genet. 2011 Mar 3. [Epub ahead of print]

Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. Human Molecular Genetics. Accepted January 2011. C

Chen Y, Choufani S, Ferreira JC, Grafodatskaya D, Butcher DT, Weksberg R. Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray. Genomics. 2011 Jan; 97:214–222. Epub Dec 2010. SRA

Choufani S, Shapiro JS, Susiarjo M, Butcher DT, Grafodatskaya D, Lou Y, Ferreira JC, Pinto D, Scherer SW, Shaffer LG, Coullin P, Caniggia I, Beyene J, Slim R, Bartolomei MS,  Weksberg R.  A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Research. Accepted December 2010. SRA

Ferreira JC, Choufani S, Grafodatskaya D, Butcher DT, David Chitayat D, Shuman C, Kingdom J, Keating S, Weksberg R. WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Epigenetics. Accepted December 2010. SRA

Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Andrew R. Carson AR, Casallo G, Casey J, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Filipa A, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K,. Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussism J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Olaf Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent KB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Michael L. Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL,  Hallmayer J, Miller J, Monaco AP, Nurnberger Jr JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. Functional impact of global rare copy number variation in autism spectrum disorder. Nature 2010. Jul; 466(7304):368-72. Epub 2010 Jun 9. C

Grafodatskaya D, Chung B, Szatmari P, Weksberg R. Autism Spectrum Disorders and Epigenetics. Journal of the American Academy of Child and Adolescent Psychiatry. 2010 Aug; 49(8):794-809. Epub 2010 Jul 3. SRA

Ferreira JC, Choufani S, Kingdom J, Weksberg R. Epigenetic Programming and Intrauterine Growth Restriction. Fetal and Maternal Medicine Review. 2010 Aug; 21(3): 204–224. SRA

Yao ZX, Wilma Jogunoori W, Choufani S, Rashid A, Blake T, Yao W, Kreishman P, Amin R, Sidawy AA, Evans SRT, Finegold M, Reddy EP, Mishra B, Weksberg R , Kumar R,  Mishra L. Epigenetic silencing of β-spectrin a TGF-β signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome. J Biol Chem. 2010 Nov 12;285(46):36112-20. Epub 2010 Aug 25. CPA

Choufani S, Shuman C, Weksberg R.  Beckwith-Wiedemann syndrome. American Journal of Medical Genetics C: Seminars in Medical Genetics. 2010 Aug; 154C(3):343-54.  SRA

Weksberg R.  Imprinted genes and human disease. American Journal Medical Genetics C: Seminars in Medical Genetics. 2010 Aug; 154C(3):317-20. (Guest editor for issue) PA

Carter M, Nikkel S, Fernandez B, Marshall C, Noor A, Lionel A, Prasad A, Pinto D, Joseph-George A, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer S.  Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clinical Genetics. 2010 Oct 23. Epub ahead of print.

Grigoriu A, Ferreira JC, Choufani S, Baczyk D, Kingdom J,  Weksberg R. Cell specific patterns of methylation in the human placenta. Epigenetics. 2011 March; 6(3): 1-12. Epub December 2010. SRA

Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB.  Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.  American Journal of Human Genetics. 2009 Dec; 85(6):909-15. C

Grafodatskaya D, Choufani S, Ferreira JC, Butcher DT, Lou Y, Zhao C, Scherer SW, Weksberg R. EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines. Genomics. 2010 Feb; 95(2):73-83. Epub 2009 Dec. SRA

Buchanan J, Carson A, Chitayat D, Malkin D, Meyn S, Ray P, Shuman C, Weksberg R, Scherer S. The cycle of genome-directed medicine.  Genome Medicine. 2009 Feb 2;1(2):1-7. C

Ortiz-Neira C, Traubici J, Epelman M,  Moineddin R, Shuman C, Weksberg R, Daneman A: Sonographic assessment of the renal growth of the kidneys of patients with Beckwith-Wiedemann syndrome: The Beckwith-Wiedemann syndrome renal nomogram.  Clinic. 2009 Feb; 64 (1):41-4. CPA

Weksberg R, Shuman C, Beckwith B. Beckwith-Wiedemann syndrome. European Journal of Human Genetics. 2009 Jan; 18(1): 8-14. PA

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. Journal of Medical Genetics. 2010 Mar; 47(3):195-203. Epub 2009 Sep. C

Horike S, Ferreira J, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer S, Weksberg R. Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. American Journal of Medical Genetics. 2009 Nov; 149A (11):2415-23. SRA

Guo L, Choufani S, Ferreira J, Chitayat D, Shuman C, Uxa R, Keating S, Kingdom J, Weksberg R. Altered gene expression and methylation of human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Developmental Biology. 2008: 320 (1); 79-91. SRA (Top 10 most cited articles published in Developmental Biology 2008-2010)

Marshall C, Noor A, Vincent J, Lionel A, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CEJ, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicholson R, Sloman L, Summers A, Gibbons C, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer S. Structural variation of chromosomes in Autism spectrum disorder. American Journal of Human Genetics. 2008: 82(2):477-88. Epub 2008 Jan 17. C

Konen O, Armstrong D, Clarke H, Padfield N, Weksberg R, Blaser S. C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome. Pediatric Radiology. 2008: 38(7): 766-71. CPA

Greer KJ, Kirkpatrick SJ, Weksberg R, Pauli RM. Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. Am J Med Genet A. 2008: 146A (13) 1707-12. CPA

Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R.  Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. American Journal of Medical Genetics Part A. 2007 ;143(24):2924-30. SRA

Weksberg R, Stachon A, Squire J, Moldovan L, Bayani J, Meyn S, Chow E, Bassett A. Molecular characterization of deletion breakpoints in adult with 22q deletion syndrome. Human Mutation. 2007. 120 (6): 837-45. PA

Weksberg R, Shuman C, Wilkins-Haug L, Mann M, Stewart D, Croughan M, Rakowsky C, Leader A, Hall J, Friedman JM, Simpson JL, Holmes L, Infante-Rivard C. Workshop Report: Evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility: Journal of Fertility and Sterility. 2007: 88(1):27-3. PA

Bassett A, Caluseriu O, Weksberg R, Young D, Chow E. Catechol-O-methyl Transferase and Expression of Schizophrenia in 73 Adults with 22q11 Deletion Syndrome. Biological Psychiatry.2007:15-61(10):1135-40. CPA

Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna E, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen K, Cytrynbaum C, Weksberg R, Dallapiccola B, Ballabio A, Gelb B, Neri G, Tartaglia M. Diversity, parental germline origin, and phenotypic spectrum of de nova HRAS missense changes in Costello syndrome. Human Mutation. 2007. 28(3):265-72. C

Smith AC, Choufani S, Ferreira JC, and Weksberg R. Growth regulation, imprinted genes and Chromosome 11p15.5.  2007. Annual Review Pediatrics Research. 2007. 61(5):43R-47R. CPA

Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R.  Severe presentation of Beckwith-Wiedemann Syndrome associated with high levels of constitutional paternal uniparental disomy for Chromosome 11p15. American Journal of Medical Genetics Part A. 2007; 143(24):3010-5. SRA

Vincent J, Horike S, Choufani S, Paterson A, Roberts W, Szatmari P, Weksberg R, Fernandez B, Scherer S. An inversion inv (4) (p12-p15.3) in autistic sibling implicates the 4p GABA receptor gene cluster. American Journal of Medical Genetics. 2006: 43 (5): 429-34.

Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, Weksberg R.  New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenetic and Genome Research.  2006: 113 (1-4): 313-7. SRA

Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. American Journal of Medical Genetics. 2006.

Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 137: 12-23, 2005.

Weksberg R, Smith AC, Squire J, Sadowski P. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 12 Spec No 1: R61-68, 2003.

Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R. The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry 160: 1580-1586, 2003.

Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 11: 1317-1325, 2002.

Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Hum Mol Genet 10: 2989-3000, 2001.

Smith AC, Squire JA, Thorner P, Zielenska M, Shuman C, Grant R, Chitayat D, Nishikawa JL, Weksberg R. Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. Pediatr Dev Pathol 4: 550-558, 2001.

Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics 74: 370-376, 2001a.

Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet 102: 161-168, 2001b.

Barr CL, Best L, Weksberg R. Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome. Am J Med Genet 104: 120-126, 2001.

Squire JA, Li M, Perlikowski S, Fei YL, Bayani J, Zhang ZM, Weksberg R. Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome. Genomics 65: 234-242, 2000.

Hinek A, Smith AC, Cutiongco EM, Callahan JW, Gripp KW, Weksberg R. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. Am J Hum Genet 66: 859-872, 2000.

Boerkoel CF, O'Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Frund S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormala T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 159: 1-7, 2000.

Bassett AS, Chow EW, Weksberg R. Chromosomal abnormalities and schizophrenia. Am J Med Genet 97: 45-51, 2000.

Lin AE, Neri G, Hughes-Benzie R, Weksberg R. Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. Am J Med Genet 83: 378-381, 1999.

Brzustowicz LM, Farrell S, Khan MB, Weksberg R. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. Am J Hum Genet 65: 779-783, 1999.

Li M, Squire JA, Weksberg R. Overgrowth syndromes and genomic imprinting: from mouse to man. Clin Genet 53: 165-170, 1998a.

Li M, Squire JA, Weksberg R. Molecular genetics of Wiedemann-Beckwith syndrome. Am J Med Genet 79: 253-259, 1998b.

Boerkoel CF, Nowaczyk MJ, Blaser SI, Meschino WS, Weksberg R. Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. Am J Med Genet 78: 118-122, 1998.

Bassett AS, Hodgkinson K, Chow EW, Correia S, Scutt LE, Weksberg R. 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet 81: 328-337, 1998.