Anath C Lionel

Anath C Lionel

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Anath C Lionel

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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Stem Cell Reports 2018 11 1;11(5):1211-1225. Epub 2018 Nov 1.

Genetics & Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3H7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 3H7, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711183042
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http://dx.doi.org/10.1016/j.stemcr.2018.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235011PMC
November 2018

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

Am J Med Genet A 2017 Oct 25;173(10):2725-2730. Epub 2017 Aug 25.

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

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http://dx.doi.org/10.1002/ajmg.a.38352DOI Listing
October 2017

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

Am J Med Genet A 2016 09 17;170(9):2421-5. Epub 2016 Jun 17.

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

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http://dx.doi.org/10.1002/ajmg.a.37802DOI Listing
September 2016

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.

Int J Cardiol 2016 Feb 22;204:115-21. Epub 2015 Nov 22.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; The Toronto Congenital Cardiac Centre for Adults & Division of Cardiology in the Department of Medicine, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada; The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2015.11.127DOI Listing
February 2016

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.

Genet Med 2015 Feb 31;17(2):149-57. Epub 2014 Jul 31.

1] Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [2] Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada [3] Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada [4] Department of Psychiatry, University of Toronto and University Health Network, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464824PMC
February 2015

Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity.

Proc Natl Acad Sci U S A 2015 Jan 5;112(3):851-6. Epub 2015 Jan 5.

Division of Neurosurgery, Program in Developmental and Stem Cell Biology, Arthur and Sonia Labatt Brain Tumour Research Centre, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada M5S 1A8; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada M5S 1A8

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http://dx.doi.org/10.1073/pnas.1320611111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4311802PMC
January 2015

Copy number variation in Han Chinese individuals with autism spectrum disorder.

J Neurodev Disord 2014 23;6(1):34. Epub 2014 Aug 23.

The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, 686 Bay Street, Peter Gilgan Centre for Research and Learning, Room 139800, Toronto, Ontario M5G 0A4, Canada.

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http://dx.doi.org/10.1186/1866-1955-6-34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147384PMC
August 2014

Outfoxed by RBFOX1-a caution about ascertainment bias.

Am J Med Genet A 2014 Jun 24;164A(6):1411-8. Epub 2014 Mar 24.

Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36458DOI Listing
June 2014

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes.

Am J Med Genet B Neuropsychiatr Genet 2014 Jun 3;165B(4):303-13. Epub 2014 Apr 3.

Molecular Neuropsychiatry & Development Lab, Campbell Family Mental Health Research Institute, The Centre for Addiction & Mental Health, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.b.32232DOI Listing
June 2014

Adult neuropsychiatric expression and familial segregation of 2q13 duplications.

Am J Med Genet B Neuropsychiatr Genet 2014 Jun 8;165B(4):337-44. Epub 2014 May 8.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.b.32236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464821PMC
June 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

Neurogenetics 2014 May 19;15(2):117-27. Epub 2014 Mar 19.

Neurogenetics Section, R-30, The Campbell Family Brain Research Institute, The Centre for Addiction & Mental Health (CAMH), 250 College Street, Toronto, ON, M5T 1R8, Canada.

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http://dx.doi.org/10.1007/s10048-014-0394-0DOI Listing
May 2014

Adult expression of a 3q13.31 microdeletion.

Mol Cytogenet 2014 Mar 20;7(1):23. Epub 2014 Mar 20.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1186/1755-8166-7-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022390PMC
March 2014

1q21.1 Microduplication expression in adults.

Genet Med 2013 Apr 27;15(4):282-9. Epub 2012 Sep 27.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2012.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3817079PMC
April 2013

Subgroup-specific structural variation across 1,000 medulloblastoma genomes.

Authors:
Paul A Northcott David J H Shih John Peacock Livia Garzia A Sorana Morrissy Thomas Zichner Adrian M Stütz Andrey Korshunov Jüri Reimand Steven E Schumacher Rameen Beroukhim David W Ellison Christian R Marshall Anath C Lionel Stephen Mack Adrian Dubuc Yuan Yao Vijay Ramaswamy Betty Luu Adi Rolider Florence M G Cavalli Xin Wang Marc Remke Xiaochong Wu Readman Y B Chiu Andy Chu Eric Chuah Richard D Corbett Gemma R Hoad Shaun D Jackman Yisu Li Allan Lo Karen L Mungall Ka Ming Nip Jenny Q Qian Anthony G J Raymond Nina T Thiessen Richard J Varhol Inanc Birol Richard A Moore Andrew J Mungall Robert Holt Daisuke Kawauchi Martine F Roussel Marcel Kool David T W Jones Hendrick Witt Africa Fernandez-L Anna M Kenney Robert J Wechsler-Reya Peter Dirks Tzvi Aviv Wieslawa A Grajkowska Marta Perek-Polnik Christine C Haberler Olivier Delattre Stéphanie S Reynaud François F Doz Sarah S Pernet-Fattet Byung-Kyu Cho Seung-Ki Kim Kyu-Chang Wang Wolfram Scheurlen Charles G Eberhart Michelle Fèvre-Montange Anne Jouvet Ian F Pollack Xing Fan Karin M Muraszko G Yancey Gillespie Concezio Di Rocco Luca Massimi Erna M C Michiels Nanne K Kloosterhof Pim J French Johan M Kros James M Olson Richard G Ellenbogen Karel Zitterbart Leos Kren Reid C Thompson Michael K Cooper Boleslaw Lach Roger E McLendon Darell D Bigner Adam Fontebasso Steffen Albrecht Nada Jabado Janet C Lindsey Simon Bailey Nalin Gupta William A Weiss László Bognár Almos Klekner Timothy E Van Meter Toshihiro Kumabe Teiji Tominaga Samer K Elbabaa Jeffrey R Leonard Joshua B Rubin Linda M Liau Erwin G Van Meir Maryam Fouladi Hideo Nakamura Giuseppe Cinalli Miklós Garami Peter Hauser Ali G Saad Achille Iolascon Shin Jung Carlos G Carlotti Rajeev Vibhakar Young Shin Ra Shenandoah Robinson Massimo Zollo Claudia C Faria Jennifer A Chan Michael L Levy Poul H B Sorensen Matthew Meyerson Scott L Pomeroy Yoon-Jae Cho Gary D Bader Uri Tabori Cynthia E Hawkins Eric Bouffet Stephen W Scherer James T Rutka David Malkin Steven C Clifford Steven J M Jones Jan O Korbel Stefan M Pfister Marco A Marra Michael D Taylor

Nature 2012 Aug;488(7409):49-56

Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.

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http://is.muni.cz/repo/990835/nature11327.pdf
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http://www.nature.com/doifinder/10.1038/nature11327
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http://dx.doi.org/10.1038/nature11327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683624PMC
August 2012

Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.

BMC Med Genet 2011 Mar 26;12:45. Epub 2011 Mar 26.

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

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http://dx.doi.org/10.1186/1471-2350-12-45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072306PMC
March 2011

A genome-wide scan for common alleles affecting risk for autism.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Nuala Sykes Alistair T Pagnamenta Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Andrew R Carson Guillermo Casallo Jillian Casey Su H Chu Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jeremy Goldberg Jonathan Green Stephen J Guter Hakon Hakonarson Elizabeth A Heron Matthew Hill Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Nadine M Melhem Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K Mirza Jeff Munson Stanley F Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R Parr Barbara Parrini Tara Paton Andrew Pickles Joseph Piven David J Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H Wassink Kirsty Wing Kerstin Wittemeyer Shawn Wood Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Bernie Devlin Sean Ennis Joachim Hallmayer

Hum Mol Genet 2010 Oct 27;19(20):4072-82. Epub 2010 Jul 27.

Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

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http://hmg.oxfordjournals.org/content/19/20/4072.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddq307
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http://dx.doi.org/10.1093/hmg/ddq307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401PMC
October 2010

Functional impact of global rare copy number variation in autism spectrum disorders.

Authors:
Dalila Pinto Alistair T Pagnamenta Lambertus Klei Richard Anney Daniele Merico Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Joana Almeida Elena Bacchelli Gary D Bader Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Susan E Bryson Andrew R Carson Guillermo Casallo Jillian Casey Brian H Y Chung Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett Cheryl Cytrynbaum Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jeremy Goldberg Andrew Green Jonathan Green Stephen J Guter Hakon Hakonarson Elizabeth A Heron Matthew Hill Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K Mirza Jeff Munson Stanley F Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R Parr Barbara Parrini Tara Paton Andrew Pickles Marion Pilorge Joseph Piven Chris P Ponting David J Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Ana F Sequeira Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Olaf Stein Nuala Sykes Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H Wassink Caleb Webber Rosanna Weksberg Kirsty Wing Kerstin Wittemeyer Shawn Wood Jing Wu Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Bernie Devlin Sean Ennis Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Joachim Hallmayer Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Stephen W Scherer James S Sutcliffe Catalina Betancur

Nature 2010 Jul 9;466(7304):368-72. Epub 2010 Jun 9.

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

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http://dx.doi.org/10.1038/nature09146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021798PMC
July 2010

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.

Hum Mol Genet 2008 Dec 20;17(24):4045-53. Epub 2008 Sep 20.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada.

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http://dx.doi.org/10.1093/hmg/ddn307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638574PMC
December 2008