Publications by authors named "Edwin J Young"

13Publications

A large data resource of genomic copy number variation across neurodevelopmental disorders.

Authors:

Mehdi Zarrei Christie L Burton Worrawat Engchuan Edwin J Young Edward J Higginbotham Jeffrey R MacDonald Brett Trost Ada J S Chan Susan Walker Sylvia Lamoureux Tracy Heung Bahareh A Mojarad Barbara Kellam Tara Paton Muhammad Faheem Karin Miron Chao Lu Ting Wang Kozue Samler Xiaolin Wang Gregory Costain Ny Hoang Giovanna Pellecchia John Wei Rohan V Patel Bhooma Thiruvahindrapuram Maian Roifman Daniele Merico Tara Goodale Irene Drmic Marsha Speevak Jennifer L Howe Ryan K C Yuen Janet A Buchanan Jacob A S Vorstman Christian R Marshall Richard F Wintle David R Rosenberg Gregory L Hanna Marc Woodbury-Smith Cheryl Cytrynbaum Lonnie Zwaigenbaum Mayada Elsabbagh Janine Flanagan Bridget A Fernandez Melissa T Carter Peter Szatmari Wendy Roberts Jason Lerch Xudong Liu Rob Nicolson Stelios Georgiades Rosanna Weksberg Paul D Arnold Anne S Bassett Jennifer Crosbie Russell Schachar Dimitri J Stavropoulos Evdokia Anagnostou Stephen W Scherer

NPJ Genom Med 2019 7;4:26. Epub 2019 Oct 7.

1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON Canada.

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October 2019

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.

Authors:

Kate Tsiplova Richard M Zur Christian R Marshall Dimitri J Stavropoulos Sergio L Pereira Daniele Merico Edwin J Young Wilson W L Sung Stephen W Scherer Wendy J Ungar

Genet Med 2017 11 4;19(11):1268-1275. Epub 2017 May 4.

Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.

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November 2017

Topoisomerase II beta interacts with cohesin and CTCF at topological domain borders.

Authors:

Liis Uusküla-Reimand Huayun Hou Payman Samavarchi-Tehrani Matteo Vietri Rudan Minggao Liang Alejandra Medina-Rivera Hisham Mohammed Dominic Schmidt Petra Schwalie Edwin J Young Jüri Reimand Suzana Hadjur Anne-Claude Gingras Michael D Wilson

Genome Biol 2016 08 31;17(1):182. Epub 2016 Aug 31.

Genetics and Genome Biology Program, SickKids Research Institute, Toronto, ON, Canada.

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August 2016

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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March 2015

MACE: model based analysis of ChIP-exo.

Authors:

Liguo Wang Junsheng Chen Chen Wang Liis Uusküla-Reimand Kaifu Chen Alejandra Medina-Rivera Edwin J Young Michael T Zimmermann Huihuang Yan Zhifu Sun Yuji Zhang Stephen T Wu Haojie Huang Michael D Wilson Jean-Pierre A Kocher Wei Li

Nucleic Acids Res 2014 Nov 23;42(20):e156. Epub 2014 Sep 23.

Division of Biostatistics, Dan L. Duncan Cancer Center and Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA

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November 2014

Duplication of GTF2I results in separation anxiety in mice and humans.

Authors:

Carolyn B Mervis Joana Dida Emily Lam Nicole A Crawford-Zelli Edwin J Young Danielle R Henderson Tuncer Onay Colleen A Morris Janet Woodruff-Borden John Yeomans Lucy R Osborne

Am J Hum Genet 2012 Jun 10;90(6):1064-70. Epub 2012 May 10.

Department of Psychological and Brain Sciences, University of Louisville, KY 40292, USA.

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June 2012

Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety.

Authors:

Eliane Proulx Edwin J Young Lucy R Osborne Evelyn K Lambe

J Neurodev Disord 2010 Jun 19;2(2):99-108. Epub 2010 Mar 19.

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June 2010

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Am J Hum Genet 2008 Jul 19;83(1):106-11. Epub 2008 Jun 19.

Program in Genetics & Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.

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July 2008

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

Authors:

Elaine Tam Edwin J Young Colleen A Morris Christian R Marshall Wayne Loo Stephen W Scherer Carolyn B Mervis Lucy R Osborne

Am J Med Genet A 2008 Jul;146A(14):1797-806

Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

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July 2008

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Authors:

Martin J Somerville Carolyn B Mervis Edwin J Young Eul-Ju Seo Miguel del Campo Stephen Bamforth Ella Peregrine Wayne Loo Margaret Lilley Luis A Pérez-Jurado Colleen A Morris Stephen W Scherer Lucy R Osborne

N Engl J Med 2005 Oct;353(16):1694-701

Department of Medical Genetics, University of Alberta, Edmonton, Alta., Canada.

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October 2005

Expanded repeat in canine epilepsy.

Authors:

Hannes Lohi Edwin J Young Susan N Fitzmaurice Clare Rusbridge Elayne M Chan Mike Vervoort Julie Turnbull Xiao-Chu Zhao Leonarda Ianzano Andrew D Paterson Nathan B Sutter Elaine A Ostrander Catherine André G Diane Shelton Cameron A Ackerley Stephen W Scherer Berge A Minassian

Science 2005 Jan;307(5706):81

The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.

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January 2005

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

Authors:

Leonarda Ianzano Edwin J Young Xiao C Zhao Elayne M Chan M T Rodriguez Maria V Torrado Stephen W Scherer Berge A Minassian

Hum Mutat 2004 Feb;23(2):170-6

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada.

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February 2004

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Authors:

Elayne M Chan Edwin J Young Leonarda Ianzano Iulia Munteanu Xiaochu Zhao Constantine C Christopoulos Giuliano Avanzini Maurizio Elia Cameron A Ackerley Nebojsa J Jovic Saeed Bohlega Eva Andermann Guy A Rouleau Antonio V Delgado-Escueta Berge A Minassian Stephen W Scherer

Nat Genet 2003 Oct 7;35(2):125-7. Epub 2003 Sep 7.

Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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October 2003