Publications by authors named "Sylvia Dobrzeniecka"

22Publications

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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November 2017

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

J Med Genet 2015 May 3;52(5):303-11. Epub 2015 Feb 3.

CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada Department of Neurosciences, Université de Montréal, Montreal, Canada Department of Pediatrics, Université de Montréal, Montreal, Canada.

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May 2015

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Eur J Hum Genet 2014 Jun 20;22(6):792-800. Epub 2013 Nov 20.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Child & Family Research Institute, Vancouver, British Columbia, Canada.

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June 2014

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

Eur J Hum Genet 2013 Jul 21;21(7):749-56. Epub 2012 Nov 21.

Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal, CRCHUM Notre-Dame Hospital, Montreal, Quebec, Canada.

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July 2013

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

Neurobiol Aging 2013 Apr 10;34(4):1311.e1-2. Epub 2012 Oct 10.

Centre of Excellence in Neuroscience of Université de Montréal, CHUM Research Center and the Department of Medicine, Université de Montréal, Montreal, Quebec, Canada.

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April 2013

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.

Eur J Hum Genet 2012 Jul 18;20(7):796-800. Epub 2012 Jan 18.

Centre of Excellence in Neuroscience of Université de Montréal, Centre de Recherche du CHU Sainte-Justine, Montréal, Quebec, Canada.

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July 2012

Intellectual disability without epilepsy associated with STXBP1 disruption.

Eur J Hum Genet 2011 May 2;19(5):607-9. Epub 2011 Mar 2.

The Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease (S2D) group, Montréal, Quebec, Canada.

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May 2011

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Biol Psychiatry 2011 May 15;69(9):898-901. Epub 2011 Jan 15.

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease, S2D, Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Montréal, Canada.

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May 2011

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Ann Neurol 2009 Jun;65(6):748-53

Centre of Excellence in Neuromics of Université de Montréal and Synapse to Disease Group, Centre Hospitalier Universitaire Sainte-Justine Research Center, Université de Montréal, Montreal, Quebec, Canada.

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June 2009