James Stavropoulos

James Stavropoulos

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James Stavropoulos

James Stavropoulos

Publications by authors named "James Stavropoulos"

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16q22.1 microdeletion and anticipatory guidance.

Am J Med Genet A 2019 Jul 29;179(7):1287-1292. Epub 2019 May 29.

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

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http://dx.doi.org/10.1002/ajmg.a.61155DOI Listing
July 2019

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.

Am J Med Genet A 2018 02 22;176(2):450-454. Epub 2017 Dec 22.

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

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http://doi.wiley.com/10.1002/ajmg.a.38570
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http://dx.doi.org/10.1002/ajmg.a.38570DOI Listing
February 2018

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.

JAMA Neurol 2017 11;74(11):1301-1311

Epilepsy Genetics Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jamaneurol.2017.1775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710585PMC
November 2017

Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures.

Am J Med Genet A 2016 12 8;170(12):3227-3230. Epub 2016 Aug 8.

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

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http://dx.doi.org/10.1002/ajmg.a.37876DOI Listing
December 2016

Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.

PLoS One 2015 5;10(10):e0139656. Epub 2015 Oct 5.

Department of Computer Science, University of Toronto, Toronto, Ontario, Canada; Hospital of Sick Children, Toronto, Ontario, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0139656PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593641PMC
June 2016

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome.

Neurol Genet 2016 Feb 14;2(1):e43. Epub 2016 Jan 14.

Hospital for Sick Children, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817900PMC
February 2016

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Am J Hum Genet 2016 Jan 10;98(1):90-101. Epub 2015 Dec 10.

Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. Electronic address:

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http://www.cell.com/cms/attachment/2040911867/2054828527/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500457
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http://dx.doi.org/10.1016/j.ajhg.2015.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716669PMC
January 2016

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.

Cell Mol Gastroenterol Hepatol 2015 Jul;1(4):381-394.e7

SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada ; Institute of Medical Science, University of Toronto, Toronto, ON, Canada ; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S2352345X150009
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http://dx.doi.org/10.1016/j.jcmgh.2015.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507283PMC
July 2015

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.

J Clin Oncol 2015 Mar 9;33(9):1015-22. Epub 2015 Feb 9.

Matthew Mistry, Nataliya Zhukova, Daniele Merico, Rahul Krishnatry, Mary Shago, James Stavropoulos, Noa Alon, Peter N. Ray, Vilma Navickiene, Joshua Mangerel, Marc Remke, Vijay Ramaswamy, Ana Guerreiro Stucklin, Martin Li, Edwin J. Young, Cindy Zhang, Pedro Castelo-Branco, Doua Bakry, Suzanne Laughlin, James T. Rutka, Peter B. Dirks, Michael D. Taylor, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori; The Hospital for Sick Children; Matthew Mistry, Patricia Rakopoulos, Rahul Krishnatry, Joshua Mangerel, Pawel Buczkowicz, Ana Guerreiro Stucklin, Doua Bakry, Adam Shlien, Mark Greenberg, David Malkin, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, and Uri Tabori, University of Toronto; Jason D. Pole, Pediatric Oncology Group of Ontario, Toronto, Ontario; Jennifer Chan, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada; Pedro Castelo-Branco, Universidade do Algarve, Faro, Portugal; Keith L. Ligon, Dana-Farber/Boston Children's Cancer Center, Boston, MA.

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http://dx.doi.org/10.1200/JCO.2014.58.3922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356711PMC
March 2015

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

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