Publications by authors named "Jean Monlong"

18Publications

Genotyping structural variants in pangenome graphs using the vg toolkit.

Genome Biol 2020 02 12;21(1):35. Epub 2020 Feb 12.

UC Santa Cruz Genomics Institute, University of California, Santa Cruz, California, USA.

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http://dx.doi.org/10.1186/s13059-020-1941-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017486PMC
February 2020

Human copy number variants are enriched in regions of low mappability.

Nucleic Acids Res 2018 08;46(14):7236-7249

Department of Human Genetics, McGill University, Montréal H3A 1B1, Canada.

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http://dx.doi.org/10.1093/nar/gky538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101599PMC
August 2018

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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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Human genomics. The human transcriptome across tissues and individuals.

Science 2015 May;348(6235):660-5

Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain. Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain. Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Catalonia, Spain. Joint CRG-Barcelona Super Computing Center (BSC)-Institut de Recerca Biomedica (IRB) Program in Computational Biology, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1126/science.aaa0355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547472PMC
May 2015

Identification of genetic variants associated with alternative splicing using sQTLseekeR.

Nat Commun 2014 Aug 20;5:4698. Epub 2014 Aug 20.

1] Center for Genomic Regulation, Universitat Pompeu Fabra, C/ Dr Aiguader 88 08003, Barcelona, Catalonia, Spain [2] Department of Experimental and Health Sciences, Universitat Pompeu Fabra 08003, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/ncomms5698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143934PMC
August 2014

Overdiagnosis from non-progressive cancer detected by screening mammography: stochastic simulation study with calibration to population based registry data.

BMJ 2011 Nov 23;343:d7017. Epub 2011 Nov 23.

Registre du Cancer de l'Isère, Centre Hospitalier Universitaire de Grenoble, BP 217, Pavillon E, 38043 Grenoble Cedex 9, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222945PMC
http://dx.doi.org/10.1136/bmj.d7017DOI Listing
November 2011