Rosanna Weksberg

Rosanna Weksberg

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Rosanna Weksberg

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An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor.

Int J Cancer 2019 Jul 8. Epub 2019 Jul 8.

Division of Hematology-Oncology, Montreal Children's Hospital, Department of Pediatrics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ijc.32561DOI Listing
July 2019

Identifying new Wilms' tumour predisposition genes.

Lancet Child Adolesc Health 2019 May 16;3(5):285-287. Epub 2019 Mar 16.

Division of Haematology and Oncology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON M5G-1X8, Canada.

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http://dx.doi.org/10.1016/S2352-4642(19)30064-1DOI Listing
May 2019

Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome.

Hum Mol Genet 2019 02;28(3):372-385

MUHC Reproductive Centre, Department of Obstetrics and Gynecology, Royal Victoria Hospital and Research Institute of McGill University Health Centre, Quebec, Canada.

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/hmg/ddy321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6337702PMC
February 2019

Don't brush off buccal data heterogeneity.

Epigenetics 2019 Feb 1;14(2):109-117. Epub 2019 Mar 1.

a Program in Genetics and Genome Biology , The Hospital for Sick Children , Toronto , Ontario , Canada.

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http://dx.doi.org/10.1080/15592294.2019.1581592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557604PMC
February 2019

DNA Methylation Reduces the Yes-Associated Protein 1/WW Domain Containing Transcription Regulator 1 Pathway and Prevents Pathologic Remodeling during Bladder Obstruction by Limiting Expression of BDNF.

Am J Pathol 2018 10 17;188(10):2177-2194. Epub 2018 Aug 17.

Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Urology Division, Department of Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Sciences, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada; Department of Physiology, Faculty of Arts and Sciences, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029440173103
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http://dx.doi.org/10.1016/j.ajpath.2018.06.024DOI Listing
October 2018

Vitamin D Supplementation in Pregnancy and Lactation and Infant Growth.

N Engl J Med 2018 Aug;379(6):535-546

From the Department of Pediatrics (D.E.R., S.K.M., S.Z., E.P., J.K., J. Shi, R.W., P.S.S., L.G.P., H.Q.) and the Dalla Lana School of Public Health (A.R.W.), University of Toronto, and the Centre for Global Child Health (D.E.R., S.K.M., S.Z., E.P., J.K., J. Shi, R.W., L.G.P., H.Q.), the Department of Diagnostic Imaging (J. Stimec), and the Ontario Child Health Support Unit (A.R.W.), Hospital for Sick Children, and the Departments of Pediatrics (P.S.S.), and Obstetrics and Gynecology (K.E.M.), Mt. Sinai Hospital - all in Toronto; the Department of Nutritional Sciences, Penn State University, University Park, PA (A.D.G.); and the Maternal and Child Health Training Institute (I.J.) and the Nutrition and Clinical Services Division, International Center for Diarrheal Disease Research, Bangladesh (T.A., S.S.S., M.M.I., F.K.K., M.M., Q.S.R., A.A.M.), Dhaka, Bangladesh.

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http://dx.doi.org/10.1056/NEJMoa1800927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004541PMC
August 2018

Compromised JMJD6 Histone Demethylase Activity Affects VHL Gene Repression in Preeclampsia.

J Clin Endocrinol Metab 2018 04;103(4):1545-1557

Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.

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https://academic.oup.com/jcem/article/103/4/1545/4822912
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http://dx.doi.org/10.1210/jc.2017-02197DOI Listing
April 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

Epigenetics of Autism Spectrum Disorder.

Adv Exp Med Biol 2017 ;978:63-90

Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1007/978-3-319-53889-1_4DOI Listing
September 2017

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

Nat Neurosci 2017 Apr 6;20(4):602-611. Epub 2017 Mar 6.

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1038/nn.4524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501701PMC
April 2017

An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.

J Pediatr Genet 2017 Mar 10;6(1):3-17. Epub 2016 Nov 10.

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1055/s-0036-1593840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288000PMC
March 2017

Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction.

Clin Epigenetics 2016 21;8:70. Epub 2016 Jun 21.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario Canada ; Department of Paediatrics, University of Toronto, Toronto, Ontario Canada ; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario Canada ; Institute of Medical Science, University of Toronto, Toronto, Ontario Canada.

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http://dx.doi.org/10.1186/s13148-016-0238-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915063PMC
December 2016

Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility.

J Clin Oncol 2016 Oct;34(30):3697-3704

Nardin Samuel, Gavin Wilson, James Tran, Meredith Irwin, Rosanna Weksberg, Thomas J. Hudson, and David Malkin, University of Toronto; Nardin Samuel, Badr Id Said, Youliang Lou, Weili Li, Ana Novokmet, James Tran, Sanaa Choufani, Marc Remke, Vijay Ramaswamy, Florence M.G. Cavalli, Michael D. Taylor, Uri Tabori, Meredith Irwin, Rosanna Weksberg, Jonathan D. Wasserman, Andrew D. Paterson, and David Malkin, The Hospital for Sick Children; Nardin Samuel, Gavin Wilson, Mathieu Lemire, and Thomas J. Hudson, Ontario Institute for Cancer Research; Christine Elser, Princess Margaret Cancer Centre, Toronto, Ontario, Canada; Diana Merino, National Institutes of Health, Bethesda, MD; Kim E. Nichols, St Jude Children's Research Hospital, Memphis, TN; Jonathan L. Finlay, Nationwide Children's Hospital, Columbus, OH; Lynn Meister, Joe DiMaggio Children's Hospital, Hollywood, FL; Jordan R. Hansford, Children's Cancer Centre, Royal Children's Hospital, Melbourne, Victoria, Australia; and Maria Isabel W. Achatz, Hospital AC Camargo, São Paulo, Brazil.

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http://dx.doi.org/10.1200/JCO.2016.67.6940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366343PMC
October 2016

Comparison of genome-wide and gene-specific DNA methylation between ART and naturally conceived pregnancies.

Epigenetics 2015 12;10(6):474-83. Epub 2015 Jan 12.

a Department of Obstetrics and Gynecology; Mount Sinai Hospital ; Toronto , ON Canada.

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http://dx.doi.org/10.4161/15592294.2014.988041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623493PMC
March 2016

Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.

Pediatr Res 2015 Dec 26;78(6):609-17. Epub 2015 Aug 26.

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

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http://dx.doi.org/10.1038/pr.2015.156DOI Listing
December 2015

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

Neurocognitive Late Effects of Chemotherapy in Survivors of Acute Lymphoblastic Leukemia: Focus on Methotrexate.

J Can Acad Child Adolesc Psychiatry 2015 4;24(1):25-32. Epub 2015 Mar 4.

Psychiatry Department, The Hospital for Sick Children, Toronto, Ontario ; Neurosciences and Mental Health, The Hospital for Sick Children, Toronto, Ontario.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357331PMC
September 2015

Biological and biochemical modulation of DNA methylation.

Epigenomics 2014 ;6(6):593-602

Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.2217/epi.14.49DOI Listing
August 2015

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.

Am J Hum Genet 2015 Aug 9;97(2):216-27. Epub 2015 Jul 9.

Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Medicine, University of Toronto, ON M5G 2C4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573259PMC
August 2015

Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.

Am J Med Genet A 2015 Jul 21;167(7):1565-9. Epub 2015 Apr 21.

Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, Raymond C. Philips Unit, Gainesville, Florida.

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http://dx.doi.org/10.1002/ajmg.a.37058DOI Listing
July 2015

An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome.

Am J Med Genet A 2015 Jul 5;167(7):1560-4. Epub 2015 May 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37064DOI Listing
July 2015

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Epilepsia 2015 May 25;56(5):707-16. Epub 2015 Mar 25.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1111/epi.12954DOI Listing
May 2015

Whole-genome sequencing of quartet families with autism spectrum disorder.

Nat Med 2015 Feb 26;21(2):185-91. Epub 2015 Jan 26.

1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/nm.3792DOI Listing
February 2015

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

Role of STAT5 and epigenetics in lactation-associated upregulation of multidrug transporter ABCG2 in the mammary gland.

Am J Physiol Endocrinol Metab 2014 Oct 12;307(7):E596-610. Epub 2014 Aug 12.

Physiology and Experimental Medicine Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada; and

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http://dx.doi.org/10.1152/ajpendo.00323.2014DOI Listing
October 2014

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Eur J Hum Genet 2014 Mar 3;22(3). Epub 2013 Jul 3.

Department of Paediatrics and Genome Biology Program, Hospital for Sick Children and Institute of Medical Science, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925261PMC
March 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

Molecular mechanisms of childhood overgrowth.

Am J Med Genet C Semin Med Genet 2013 May 18;163C(2):71-5. Epub 2013 Apr 18.

Institute of Cancer Research, St George's University of London and the Royal Marsden Hospital, London, UK.

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http://dx.doi.org/10.1002/ajmg.c.31362DOI 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

Basic concepts of epigenetics.

Fertil Steril 2013 Mar 26;99(3):607-15. Epub 2013 Jan 26.

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

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http://dx.doi.org/10.1016/j.fertnstert.2013.01.117DOI Listing
March 2013

The health risks of ART.

EMBO Rep 2013 Feb 22;14(2):129-35. Epub 2013 Jan 22.

The Hospital for Sick Children, Toronto University, Toronto, Canada.

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http://dx.doi.org/10.1038/embor.2012.222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566846PMC
February 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

Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?

Am J Med Genet A 2012 Oct 10;158A(10):2373-81. Epub 2012 Sep 10.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35570DOI Listing
October 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

Male sex bias in placental dysfunction.

Am J Med Genet A 2012 Apr 9;158A(4):779-83. Epub 2012 Mar 9.

Maternal-Fetal Medicine Division, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35250DOI Listing
April 2012

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.

Eur J Med Genet 2011 Sep-Oct;54(5):e516-20. Epub 2011 Jun 29.

Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2011.05.008DOI Listing
December 2011

Inhibition of glycogen synthase kinase-3 enhances the differentiation and reduces the proliferation of adult human olfactory epithelium neural precursors.

Exp Cell Res 2011 Sep 25;317(15):2086-98. Epub 2011 Jun 25.

Institute of Biomaterials and Biomedical Engineering, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.yexcr.2011.06.004DOI Listing
September 2011

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.

Hum Mol Genet 2011 Jun 3;20(11):2103-15. Epub 2011 Mar 3.

Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1093/hmg/ddr093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090191PMC
June 2011

Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray.

Genomics 2011 Apr 4;97(4):214-22. Epub 2011 Jan 4.

Program in Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.ygeno.2010.12.004DOI Listing
April 2011

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Hum Mol Genet 2011 Apr 31;20(7):1363-74. Epub 2011 Jan 31.

Department of Oncology, Cancer Research UK Cambridge Research Institute, University of Cambridge, LiKaShing Centre, Cambridge, UK.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddr018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3049359PMC
April 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

Cell specific patterns of methylation in the human placenta.

Epigenetics 2011 Mar 1;6(3):368-79. Epub 2011 Mar 1.

Department of Obstetrics & Gynecology, Maternal-Fetal Medicine Division, Hospital for Sick Children, Toronto, ON, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092685PMC
http://dx.doi.org/10.4161/epi.6.3.14196DOI Listing
March 2011

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

Am J Med Genet A 2011 Feb;155A(2):424-9

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

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http://dx.doi.org/10.1002/ajmg.a.33821DOI Listing
February 2011

Imprinted genes and human disease.

Authors:
Rosanna Weksberg

Am J Med Genet C Semin Med Genet 2010 Aug;154C(3):317-20

Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.c.30268
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.30268DOI Listing
August 2010

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