Publications by authors named "Sanaa Choufani"

59Publications

EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.

Hum Mutat 2020 Jul 5. Epub 2020 Jul 5.

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

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http://dx.doi.org/10.1002/humu.24076DOI Listing
July 2020

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Am J Hum Genet 2020 05 2;106(5):596-610. Epub 2020 Apr 2.

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

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http://dx.doi.org/10.1016/j.ajhg.2020.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212265PMC
May 2020

Epigenetic signatures in overgrowth syndromes: Translational opportunities.

Am J Med Genet C Semin Med Genet 2019 12 16;181(4):491-501. Epub 2019 Oct 16.

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

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http://dx.doi.org/10.1002/ajmg.c.31745DOI Listing
December 2019

Don't brush off buccal data heterogeneity.

Epigenetics 2019 02 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

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

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

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

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 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

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

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

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

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

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

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

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

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

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

Nonpeptidic antagonists of ETA and ETB receptors reverse the ET-1-induced sustained increase of cytosolic and nuclear calcium in human aortic vascular smooth muscle cells.

Can J Physiol Pharmacol 2008 Aug;86(8):546-56

Department of Anatomy and Cell Biology, Faculty of Medicine, Université de Sherbrooke, Sherbrooke, QC, Canada.

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http://dx.doi.org/10.1139/Y08-048DOI Listing
August 2008

Growth regulation, imprinted genes, and chromosome 11p15.5.

Pediatr Res 2007 May;61(5 Pt 2):43R-47R

Institute of Medical Sciences, University of Toronto, Canada.

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http://dx.doi.org/10.1203/pdr.0b013e3180457660DOI Listing
May 2007

Activation of sarcolemma and nuclear membranes ET-1 receptors regulates transcellular calcium levels in heart and vascular smooth muscle cells.

Can J Physiol Pharmacol 2003 Jun;81(6):654-62

Department of Anatomy and Cell Biology, Faculty of Medicine, University of Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.

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http://dx.doi.org/10.1139/y03-020DOI Listing
June 2003

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

Role of endothelin-1 receptors in the sarcolemma membrane and the nuclear membrane in the modulation of basal cytosolic and nuclear calcium levels in heart cells.

Clin Sci (Lond) 2002 Aug;103 Suppl 48:141S-147S

Department of Anatomy and Cell Biology, Faculty of Medicine, Université de Sherbrooke, Sherbrooke, Québec, Canada J1H 5N4.

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http://www.clinsci.org/content/ppclinsci/103/s2002/141S.full
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http://clinsci.org/lookup/doi/10.1042/CS103S141S
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http://dx.doi.org/10.1042/CS103S141SDOI Listing
August 2002