Cheryl Shuman

Cheryl Shuman

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Cheryl Shuman

Publications by authors named "Cheryl Shuman"

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Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives.

J Genet Couns 2019 Oct 16;28(5):982-992. Epub 2019 Jul 16.

Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/jgc4.1150DOI Listing
October 2019

Perplexed by PGx? Exploring the impact of pharmacogenomic results on medical management, disclosures and patient behavior.

Pharmacogenomics 2019 04 15;20(5):319-329. Epub 2019 Apr 15.

Medcan Health Management, Inc., Toronto, Ontario, Canada.

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http://dx.doi.org/10.2217/pgs-2018-0179DOI Listing
April 2019

"A change in perspective": Exploring the experiences of adolescents with hereditary tumor predisposition.

Pediatr Blood Cancer 2019 01 11;66(1):e27445. Epub 2018 Sep 11.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/pbc.27445DOI Listing
January 2019

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.

J Genet Couns 2018 09 7;27(5):1130-1147. Epub 2018 Mar 7.

Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-018-0231-yDOI Listing
September 2018

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

CMAJ 2018 02;190(5):E126-E136

The Centre for Applied Genomics (Reuter, Walker, Thiruvahindrapuram, Whitney, Yuen, Trost, Paton, Pereira, Herbrick, Wintle, Merico, Howe, MacDonald, Lu, Nalpathamkalam, Sung, Wang, Patel, Pellecchia, J. Wei, Strug, Bell, Kellam, Mahtani, Hosseini, Fiume, Marshall, Buchanan, Scherer); Divisions of Clinical Pharmacology and Toxicology (I. Cohn), or Clinical, and Metabolic Genetics (Sondheimer, Weksberg, Shuman, Bowdin, Meyn, Monfared), The Hospital for Sick Children; Departments of Paediatrics (Sondheimer, R. Cohn) and Molecular Genetics (Yuen, Weksberg, Shuman, R. Cohn, Ellis, Meyn), University of Toronto; Deep Genomics Inc. (Merico); Department of Psychiatry (Bassett), University Health Network and Centre for Addiction and Mental Health, University of Toronto; Li Ka Shing Knowledge Institute (Bombard), St. Michael's Hospital; Institute of Health Policy, Management and Evaluation (Bombard), University of Toronto; Centre for Genetic Medicine (Stavropoulos, Bowdin, Ray, Monfared); Molecular Genetics Laboratory (Stavropoulos, Ray, Marshall), Division of Genome Diagnostics, Paediatric Laboratory Medicine; Developmental and Stem Cell Biology (Hildebrandt, W. Wei, Romm, Pasceri, Ellis); Ted Rogers Cardiac Genome Clinic (Hosseini); Cytogenetics Laboratory (Joseph-George), Division of Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children; Departments of Biochemistry and Laboratory Medicine, and Pathobiology (Keeley), University of Toronto; DNAstack (Cook, Fiume); McLaughlin Centre (Lee, Scherer), University of Toronto; Medcan Health Management Inc. (Davies, Hazell); Dalla Lana School of Public Health (Szego), Department of Family and Community Medicine, and The Joint Centre for Bioethics, University of Toronto; Centre for Clinical Ethics (Szego), St. Joseph's Health Centre, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.171151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798982PMC
February 2018

Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia.

Am J Med Genet A 2016 12 17;170(12):3083-3089. Epub 2016 Aug 17.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37890DOI Listing
December 2016

Obsessive-Compulsive Disorder: The Process of Parental Adaptation and Implications for Genetic Counseling.

J Genet Couns 2016 10 7;25(5):912-22. Epub 2015 Dec 7.

Department of Psychiatry, University of British Columbia, 3rd floor, A3-112, 938 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.

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http://dx.doi.org/10.1007/s10897-015-9914-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942265PMC
October 2016

The Relationship Between Burnout and Occupational Stress in Genetic Counselors.

J Genet Couns 2016 08 26;25(4):731-41. Epub 2016 May 26.

Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-016-9968-3DOI Listing
August 2016

Experience with genetic counseling: the adolescent perspective.

J Genet Couns 2016 06 17;25(3):583-95. Epub 2015 Nov 17.

Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-015-9912-yDOI Listing
June 2016

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.

Eur J Hum Genet 2015 Sep 10;23(9):1135-41. Epub 2014 Dec 10.

1] Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada [2] Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada [3] Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538218PMC
September 2015

Predictive genomic testing of children for adult onset disorders: a Canadian perspective.

Am J Bioeth 2014 ;14(3):19-21

a St. Joseph's Health Centre , The Hospital for Sick Children, and University of Toronto.

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http://dx.doi.org/10.1080/15265161.2013.879960DOI Listing
October 2014

Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2014 Oct 29;164A(10):2682-4. Epub 2014 Jul 29.

Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36682DOI Listing
October 2014

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Hum Genet 2014 Mar 24;133(3):321-30. Epub 2013 Oct 24.

The Rudbeck Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1007/s00439-013-1379-zDOI Listing
March 2014

Molecular findings in Beckwith-Wiedemann syndrome.

Am J Med Genet C Semin Med Genet 2013 May 16;163C(2):131-40. Epub 2013 Apr 16.

Research Institute of the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/ajmg.c.31363DOI Listing
May 2013

Parents' perspectives on participating in genetic research in autism.

J Autism Dev Disord 2013 Mar;43(3):556-68

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10803-012-1592-yDOI Listing
March 2013

22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness.

J Genet Couns 2012 Dec 26;21(6):825-34. Epub 2012 Jul 26.

Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-012-9517-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509179PMC
December 2012

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

Am J Med Genet A 2012 Jul 21;158A(7):1662-9. Epub 2012 May 21.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35377DOI Listing
July 2012

Examining risk perception among men with a family history of prostate cancer.

Patient Educ Couns 2011 Nov 18;85(2):251-7. Epub 2011 Feb 18.

Department of Surgical Oncology, Division of Urology, Princess Margaret Hospital/University Health Network, Toronto, ON, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S073839911000784
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http://dx.doi.org/10.1016/j.pec.2010.11.020DOI Listing
November 2011

Breast and ovarian cancer: the forgotten paternal contribution.

J Genet Couns 2011 Oct 19;20(5):442-9. Epub 2011 Apr 19.

Division of Gynecologic Oncology, Princess Margaret Hospital - University Health Network, Toronto, Canada.

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http://dx.doi.org/10.1007/s10897-011-9368-7DOI Listing
October 2011

Personality traits associated with genetic counselor compassion fatigue: the roles of dispositional optimism and locus of control.

J Genet Couns 2011 Oct 24;20(5):526-40. Epub 2011 Jun 24.

Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Joseph and Wolf Lebovic Health Complex, 600 University Avenue, Toronto, Ontario, M5G 1X5, Canada.

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http://dx.doi.org/10.1007/s10897-011-9379-4DOI Listing
October 2011

WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate.

Epigenetics 2011 Apr 1;6(4):440-9. Epub 2011 Apr 1.

Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.4161/epi.6.4.14554DOI Listing
April 2011

Beckwith-Wiedemann syndrome.

Am J Med Genet C Semin Med Genet 2010 Aug;154C(3):343-54

Department of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.c.30267DOI Listing
August 2010

Beckwith-Wiedemann syndrome.

Eur J Hum Genet 2010 Jan;18(1):8-14

Department of Genetics and Genome Biology, The Hospital for Sick Children, 555 University Ave., Toronto, Ontario M5G 1X8, Canada.

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http://www.nature.com/articles/ejhg2009106
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http://dx.doi.org/10.1038/ejhg.2009.106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987155PMC
January 2010

Whole genome scanning: resolving clinical diagnosis and management amidst complex data.

Pediatr Res 2009 Oct;66(4):357-63

McLaughlin-Rotman Centre for Global Health, University Health Network and University of Toronto, Toronto, Ontario M5G 1L7, Canada.

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http://dx.doi.org/10.1203/PDR.0b013e3181b0cbd8DOI Listing
October 2009

The cycle of genome-directed medicine.

Genome Med 2009 Feb 2;1(2):16. Epub 2009 Feb 2.

The Centre for Applied Genomics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

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http://genomemedicine.biomedcentral.com/articles/10.1186/gm1
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http://dx.doi.org/10.1186/gm16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664949PMC
February 2009

Interactive genetic counseling role-play: a novel educational strategy for family physicians.

J Genet Couns 2008 Apr 30;17(2):189-95. Epub 2008 Jan 30.

Department of Family and Community Medicine, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1007/s10897-007-9142-zDOI Listing
April 2008

Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility.

Fertil Steril 2007 Jul 17;88(1):27-31. Epub 2007 Apr 17.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.fertnstert.2006.11.114DOI Listing
July 2007

Attitudes regarding predictive testing for retinitis pigmentosa.

Ophthalmic Genet 2007 Mar;28(1):9-15

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1080/13816810701199423DOI Listing
March 2007

Games in clinical genetic counseling supervision.

J Genet Couns 2006 Aug;15(4):225-43

Genetic Counseling Program, Brandeis University, Waltham, Massachusetts 02454, USA.

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http://dx.doi.org/10.1007/s10897-006-9029-4DOI Listing
August 2006

Beckwith-Wiedemann syndrome.

Am J Med Genet C Semin Med Genet 2005 Aug;137C(1):12-23

University of Toronto, Canada.

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http://dx.doi.org/10.1002/ajmg.c.30058DOI Listing
August 2005

Human chromosome 7: DNA sequence and biology.

Science 2003 May 10;300(5620):767-72. Epub 2003 Apr 10.

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1126/science.1083423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882961PMC
May 2003

Hypercalciuria in Beckwith-Wiedemann syndrome.

J Pediatr 2003 Feb;142(2):206-8

Division of Nephrology and the Program in Developmental Biology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760240331
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http://dx.doi.org/10.1067/mpd.2003.82DOI Listing
February 2003

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

J Am Soc Nephrol 2002 Aug;13(8):2077-84

Divisions of Nephrology and Clinical and Metabolic Genetics, Program in Developmental Biology, Research Institute, and Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/01.asn.0000023431.16173.55DOI Listing
August 2002

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Hum Mol Genet 2002 May;11(11):1317-25

Division of Clinical and Metabolic Genetics and the Research Institute, Department of Paediatrics Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1093/hmg/11.11.1317DOI Listing
May 2002