Publications by authors named "Justine Rousseau"

29Publications

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

Authors:
Chunmei Li Eliane Beauregard-Lacroix Christine Kondratev Justine Rousseau Ah Jung Heo Katherine Neas Brett H Graham Jill A Rosenfeld Carlos A Bacino Matias Wagner Maren Wenzel Fuad Al Mutairi Hamad Al Deiab Joseph G Gleeson Valentina Stanley Maha S Zaki Yong Tae Kwon Michel R Leroux Philippe M Campeau

Am J Hum Genet 2021 Jan 18;108(1):134-147. Epub 2020 Dec 18.

CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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January 2021

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

Authors:
Meagan Collins Valancy Miranda Justine Rousseau Lisa E Kratz Philippe M Campeau

Bone 2020 12 19;141:115601. Epub 2020 Aug 19.

CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada. Electronic address:

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December 2020

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

Authors:
Jonathan Humbert Smrithi Salian Periklis Makrythanasis Gabrielle Lemire Justine Rousseau Sophie Ehresmann Thomas Garcia Rami Alasiri Armand Bottani Sylviane Hanquinet Erin Beaver Jennifer Heeley Ann C M Smith Seth I Berger Stylianos E Antonarakis Xiang-Jiao Yang Jacques Côté Philippe M Campeau

Am J Hum Genet 2020 09 20;107(3):564-574. Epub 2020 Aug 20.

Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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September 2020

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Authors:
Thi Tuyet Mai Nguyen Yoshiko Murakami Sabrina Mobilio Marcello Niceta Giuseppe Zampino Christophe Philippe Sébastien Moutton Maha S Zaki Kiely N James Damir Musaev Weiyi Mu Kristin Baranano Jessica R Nance Jill A Rosenfeld Nancy Braverman Andrea Ciolfi Francisca Millan Richard E Person Ange-Line Bruel Christel Thauvin-Robinet Athina Ververi Catherine DeVile Alison Male Stephanie Efthymiou Reza Maroofian Henry Houlden Shazia Maqbool Fatima Rahman Nissan V Baratang Justine Rousseau Anik St-Denis Matthew J Elrick Irina Anselm Lance H Rodan Marco Tartaglia Joseph Gleeson Taroh Kinoshita Philippe M Campeau

Am J Hum Genet 2020 04 26;106(4):484-495. Epub 2020 Mar 26.

CHU-Sainte Justine Research Center, University of Montreal, Montreal, QC, Canada, H3T1C5; Department of Pediatrics, University of Montreal, Montreal, QC, Canada, H3T1C5. Electronic address:

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April 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Authors:
Erfan Aref-Eshghi Jennifer Kerkhof Victor P Pedro Mouna Barat-Houari Nathalie Ruiz-Pallares Jean-Christophe Andrau Didier Lacombe Julien Van-Gils Patricia Fergelot Christèle Dubourg Valerie Cormier-Daire Sophie Rondeau François Lecoquierre Pascale Saugier-Veber Gaël Nicolas Gaetan Lesca Nicolas Chatron Damien Sanlaville Antonio Vitobello Laurence Faivre Christel Thauvin-Robinet Frederic Laumonnier Martine Raynaud Mariëlle Alders Marcel Mannens Peter Henneman Raoul C Hennekam Guillaume Velasco Claire Francastel Damien Ulveling Andrea Ciolfi Simone Pizzi Marco Tartaglia Solveig Heide Delphine Héron Cyril Mignot Boris Keren Sandra Whalen Alexandra Afenjar Thierry Bienvenu Philippe M Campeau Justine Rousseau Michael A Levy Lauren Brick Mariya Kozenko Tugce B Balci Victoria Mok Siu Alan Stuart Mike Kadour Jennifer Masters Kyoko Takano Tjitske Kleefstra Nicole de Leeuw Michael Field Marie Shaw Jozef Gecz Peter J Ainsworth Hanxin Lin David I Rodenhiser Michael J Friez Matt Tedder Jennifer A Lee Barbara R DuPont Roger E Stevenson Steven A Skinner Charles E Schwartz David Genevieve Bekim Sadikovic

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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March 2020

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.

Authors:
Kezhi Yan Justine Rousseau Keren Machol Laura A Cross Katherine E Agre Cynthia Forster Gibson Anne Goverde Kendra L Engleman Hannah Verdin Elfride De Baere Lorraine Potocki Dihong Zhou Maxime Cadieux-Dion Gary A Bellus Monisa D Wagner Rebecca J Hale Natacha Esber Alan F Riley Benjamin D Solomon Megan T Cho Kirsty McWalter Roy Eyal Meagan K Hainlen Bryce A Mendelsohn Hillary M Porter Brendan C Lanpher Andrea M Lewis Juliann Savatt Isabelle Thiffault Bert Callewaert Philippe M Campeau Xiang-Jiao Yang

Sci Adv 2020 01 22;6(4):eaax0021. Epub 2020 Jan 22.

Rosalind and Morris Goodman Cancer Research Center, McGill University, Montreal, Quebec H3A 1A3, Canada.

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January 2020

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

Authors:
Lin Li Mohammad Ghorbani Monika Weisz-Hubshman Justine Rousseau Isabelle Thiffault Rhonda E Schnur Catherine Breen Renske Oegema Marjan Mm Weiss Quinten Waisfisz Sara Welner Helen Kingston Jordan A Hills Elles Mj Boon Lina Basel-Salmon Osnat Konen Hadassa Goldberg-Stern Lily Bazak Shay Tzur Jianliang Jin Xiuli Bi Michael Bruccoleri Kirsty McWalter Megan T Cho Maria Scarano G Bradley Schaefer Susan S Brooks Susan Starling Hughes K L I van Gassen Johanna M van Hagen Tej K Pandita Pankaj B Agrawal Philippe M Campeau Xiang-Jiao Yang

J Clin Invest 2020 03;130(3):1431-1445

Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.

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March 2020

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

Authors:
Julia Wang Justine Rousseau Emily Kim Sophie Ehresmann Yi-Ting Cheng Lita Duraine Zhongyuan Zuo Ye-Jin Park David Li-Kroeger Weimin Bi Lee-Jun Wong Jill Rosenfeld Joseph Gleeson Eissa Faqeih Fowzan S Alkuraya Klaas J Wierenga Jiani Chen Alexandra Afenjar Caroline Nava Diane Doummar Boris Keren Jane Juusola Markus Grompe Hugo J Bellen Philippe M Campeau

Am J Hum Genet 2019 12 27;105(6):1237-1253. Epub 2019 Nov 27.

Centre Hospitalier Universitaire Saint-Justine Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada. Electronic address:

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December 2019

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

Authors:
Clara D M van Karnebeek Rúben J Ramos Xiao-Yan Wen Maja Tarailo-Graovac Joseph G Gleeson Cristina Skrypnyk Koroboshka Brand-Arzamendi Farhad Karbassi Mahmoud Y Issa Robin van der Lee Britt I Drögemöller Janet Koster Justine Rousseau Philippe M Campeau Youdong Wang Feng Cao Meng Li Jos Ruiter Jolita Ciapaite Leo A J Kluijtmans Michel A A P Willemsen Judith J Jans Colin J Ross Liesbeth T Wintjes Richard J Rodenburg Marleen C D G Huigen Zhengping Jia Hans R Waterham Wyeth W Wasserman Ronald J A Wanders Nanda M Verhoeven-Duif Maha S Zaki Ron A Wevers

Am J Hum Genet 2019 09 15;105(3):534-548. Epub 2019 Aug 15.

On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands. Electronic address:

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September 2019

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.

Authors:
Norbert F Ajeawung Thi Tuyet Mai Nguyen Linchao Lu Thomas J Kucharski Justine Rousseau Sirinart Molidperee Joshua Atienza Isabel Gamache Weidong Jin Sharon E Plon Brendan H Lee Jose G Teodoro Lisa L Wang Philippe M Campeau

Am J Hum Genet 2019 09 11;105(3):625-630. Epub 2019 Jul 11.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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September 2019

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Authors:
Yoshiko Murakami Thi Tuyet Mai Nguyen Nissan Baratang Praveen K Raju Alexej Knaus Sian Ellard Gabriela Jones Baiba Lace Justine Rousseau Norbert Fonya Ajeawung Atsushi Kamei Gaku Minase Manami Akasaka Nami Araya Eriko Koshimizu Jenneke van den Ende Florian Erger Janine Altmüller Zita Krumina Jurgis Strautmanis Inna Inashkina Janis Stavusis Areeg El-Gharbawy Jessica Sebastian Ratna Dua Puri Samarth Kulshrestha Ishwar C Verma Esther M Maier Tobias B Haack Anil Israni Julia Baptista Adam Gunning Jill A Rosenfeld Pengfei Liu Marieke Joosten María Eugenia Rocha Mais O Hashem Hesham M Aldhalaan Fowzan S Alkuraya Satoko Miyatake Naomichi Matsumoto Peter M Krawitz Elsa Rossignol Taroh Kinoshita Philippe M Campeau

Am J Hum Genet 2019 08 27;105(2):384-394. Epub 2019 Jun 27.

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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August 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Authors:
Lot Snijders Blok Justine Rousseau Joanna Twist Sophie Ehresmann Motoki Takaku Hanka Venselaar Lance H Rodan Catherine B Nowak Jessica Douglas Kathryn J Swoboda Marcie A Steeves Inderneel Sahai Connie T R M Stumpel Alexander P A Stegmann Patricia Wheeler Marcia Willing Elise Fiala Aaina Kochhar William T Gibson Ana S A Cohen Ruky Agbahovbe A Micheil Innes P Y Billie Au Julia Rankin Ilse J Anderson Steven A Skinner Raymond J Louie Hannah E Warren Alexandra Afenjar Boris Keren Caroline Nava Julien Buratti Arnaud Isapof Diana Rodriguez Raymond Lewandowski Jennifer Propst Ton van Essen Murim Choi Sangmoon Lee Jong H Chae Susan Price Rhonda E Schnur Ganka Douglas Ingrid M Wentzensen Christiane Zweier André Reis Martin G Bialer Christine Moore Marije Koopmans Eva H Brilstra Glen R Monroe Koen L I van Gassen Ellen van Binsbergen Ruth Newbury-Ecob Lucy Bownass Ingrid Bader Johannes A Mayr Saskia B Wortmann Kathy J Jakielski Edythe A Strand Katja Kloth Tatjana Bierhals John D Roberts Robert M Petrovich Shinichi Machida Hitoshi Kurumizaka Stefan Lelieveld Rolph Pfundt Sandra Jansen Pelagia Deriziotis Laurence Faivre Julien Thevenon Mirna Assoum Lawrence Shriberg Tjitske Kleefstra Han G Brunner Paul A Wade Simon E Fisher Philippe M Campeau

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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May 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Authors:
Scott Bell Justine Rousseau Huashan Peng Zahia Aouabed Pierre Priam Jean-Francois Theroux Malvin Jefri Arnaud Tanti Hanrong Wu Ilaria Kolobova Heika Silviera Karla Manzano-Vargas Sophie Ehresmann Fadi F Hamdan Nuwan Hettige Xin Zhang Lilit Antonyan Christina Nassif Lina Ghaloul-Gonzalez Jessica Sebastian Jerry Vockley Amber G Begtrup Ingrid M Wentzensen Amy Crunk Robert D Nicholls Kristin C Herman Joshua L Deignan Walla Al-Hertani Stephanie Efthymiou Vincenzo Salpietro Noriko Miyake Yoshio Makita Naomichi Matsumoto Rune Østern Gunnar Houge Maria Hafström Emily Fassi Henry Houlden Jolien S Klein Wassink-Ruiter Dominic Nelson Amy Goldstein Tabib Dabir Julien van Gils Thomas Bourgeron Richard Delorme Gregory M Cooper Jose E Martinez Candice R Finnila Lionel Carmant Anne Lortie Renske Oegema Koen van Gassen Sarju G Mehta Dagmar Huhle Rami Abou Jamra Sonja Martin Han G Brunner Dick Lindhout Margaret Au John M Graham Christine Coubes Gustavo Turecki Simon Gravel Naguib Mechawar Elsa Rossignol Jacques L Michaud Julie Lessard Carl Ernst Philippe M Campeau

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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May 2019

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Authors:
Kevin C J Nixon Justine Rousseau Max H Stone Mohammed Sarikahya Sophie Ehresmann Seiji Mizuno Naomichi Matsumoto Noriko Miyake Diana Baralle Shane McKee Kosuke Izumi Alyssa L Ritter Solveig Heide Delphine Héron Christel Depienne Hannah Titheradge Jamie M Kramer Philippe M Campeau

Am J Hum Genet 2019 04 14;104(4):596-610. Epub 2019 Mar 14.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada. Electronic address:

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April 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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March 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Authors:
Lot Snijders Blok Justine Rousseau Joanna Twist Sophie Ehresmann Motoki Takaku Hanka Venselaar Lance H Rodan Catherine B Nowak Jessica Douglas Kathryn J Swoboda Marcie A Steeves Inderneel Sahai Connie T R M Stumpel Alexander P A Stegmann Patricia Wheeler Marcia Willing Elise Fiala Aaina Kochhar William T Gibson Ana S A Cohen Ruky Agbahovbe A Micheil Innes P Y Billie Au Julia Rankin Ilse J Anderson Steven A Skinner Raymond J Louie Hannah E Warren Alexandra Afenjar Boris Keren Caroline Nava Julien Buratti Arnaud Isapof Diana Rodriguez Raymond Lewandowski Jennifer Propst Ton van Essen Murim Choi Sangmoon Lee Jong H Chae Susan Price Rhonda E Schnur Ganka Douglas Ingrid M Wentzensen Christiane Zweier André Reis Martin G Bialer Christine Moore Marije Koopmans Eva H Brilstra Glen R Monroe Koen L I van Gassen Ellen van Binsbergen Ruth Newbury-Ecob Lucy Bownass Ingrid Bader Johannes A Mayr Saskia B Wortmann Kathy J Jakielski Edythe A Strand Katja Kloth Tatjana Bierhals John D Roberts Robert M Petrovich Shinichi Machida Hitoshi Kurumizaka Stefan Lelieveld Rolph Pfundt Sandra Jansen Pelagia Deriziotis Laurence Faivre Julien Thevenon Mirna Assoum Lawrence Shriberg Tjitske Kleefstra Han G Brunner Paul A Wade Simon E Fisher Philippe M Campeau

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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February 2019

Reevaluation of the Role of Extracellular Signal-Regulated Kinase 3 in Perinatal Survival and Postnatal Growth Using New Genetically Engineered Mouse Models.

Authors:
Mathilde Soulez Marc K Saba-El-Leil Benjamin Turgeon Simon Mathien Philippe Coulombe Sonia Klinger Justine Rousseau Kim Lévesque Sylvain Meloche

Mol Cell Biol 2019 03 1;39(6). Epub 2019 Mar 1.

Institute for Research in Immunology and Cancer, Université de Montréal, Montreal, Quebec, Canada

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March 2019

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Authors:
Keren Machol Justine Rousseau Sophie Ehresmann Thomas Garcia Thi Tuyet Mai Nguyen Rebecca C Spillmann Jennifer A Sullivan Vandana Shashi Yong-Hui Jiang Nicholas Stong Elise Fiala Marcia Willing Rolph Pfundt Tjitske Kleefstra Megan T Cho Heather McLaughlin Monica Rosello Piera Carmen Orellana Francisco Martínez Alfonso Caro-Llopis Sandra Monfort Tony Roscioli Cheng Yee Nixon Michael F Buckley Anne Turner Wendy D Jones Peter M van Hasselt Floris C Hofstede Koen L I van Gassen Alice S Brooks Marjon A van Slegtenhorst Katherine Lachlan Jessica Sebastian Suneeta Madan-Khetarpal Desai Sonal Naidu Sakkubai Julien Thevenon Laurence Faivre Alice Maurel Slavé Petrovski Ian D Krantz Jennifer M Tarpinian Jill A Rosenfeld Brendan H Lee Philippe M Campeau

Am J Hum Genet 2019 01 20;104(1):164-178. Epub 2018 Dec 20.

Department of Pediatrics, CHU Sainte-Justine Research Center and University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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January 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Authors:
Lot Snijders Blok Justine Rousseau Joanna Twist Sophie Ehresmann Motoki Takaku Hanka Venselaar Lance H Rodan Catherine B Nowak Jessica Douglas Kathryn J Swoboda Marcie A Steeves Inderneel Sahai Connie T R M Stumpel Alexander P A Stegmann Patricia Wheeler Marcia Willing Elise Fiala Aaina Kochhar William T Gibson Ana S A Cohen Ruky Agbahovbe A Micheil Innes P Y Billie Au Julia Rankin Ilse J Anderson Steven A Skinner Raymond J Louie Hannah E Warren Alexandra Afenjar Boris Keren Caroline Nava Julien Buratti Arnaud Isapof Diana Rodriguez Raymond Lewandowski Jennifer Propst Ton van Essen Murim Choi Sangmoon Lee Jong H Chae Susan Price Rhonda E Schnur Ganka Douglas Ingrid M Wentzensen Christiane Zweier André Reis Martin G Bialer Christine Moore Marije Koopmans Eva H Brilstra Glen R Monroe Koen L I van Gassen Ellen van Binsbergen Ruth Newbury-Ecob Lucy Bownass Ingrid Bader Johannes A Mayr Saskia B Wortmann Kathy J Jakielski Edythe A Strand Katja Kloth Tatjana Bierhals John D Roberts Robert M Petrovich Shinichi Machida Hitoshi Kurumizaka Stefan Lelieveld Rolph Pfundt Sandra Jansen Pelagia Deriziotis Laurence Faivre Julien Thevenon Mirna Assoum Lawrence Shriberg Tjitske Kleefstra Han G Brunner Paul A Wade Simon E Fisher Philippe M Campeau

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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November 2018

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Authors:
Thi Tuyet Mai Nguyen Yoshiko Murakami Kristen M Wigby Nissan V Baratang Justine Rousseau Anik St-Denis Jill A Rosenfeld Stephanie C Laniewski Julie Jones Alejandro D Iglesias Marilyn C Jones Diane Masser-Frye Angela E Scheuerle Denise L Perry Ryan J Taft Françoise Le Deist Miles Thompson Taroh Kinoshita Philippe M Campeau

Am J Hum Genet 2018 10 27;103(4):602-611. Epub 2018 Sep 27.

Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada. Electronic address:

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October 2018

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Authors:
Thi Tuyet Mai Nguyen Yoshiko Murakami Eamonn Sheridan Sophie Ehresmann Justine Rousseau Anik St-Denis Guoliang Chai Norbert F Ajeawung Laura Fairbrother Tyler Reimschisel Alexandra Bateman Elizabeth Berry-Kravis Fan Xia Jessica Tardif David A Parry Clare V Logan Christine Diggle Christopher P Bennett Louise Hattingh Jill A Rosenfeld Michael Scott Perry Michael J Parker Françoise Le Deist Maha S Zaki Erika Ignatius Pirjo Isohanni Tuula Lönnqvist Christopher J Carroll Colin A Johnson Joseph G Gleeson Taroh Kinoshita Philippe M Campeau

Am J Hum Genet 2017 Nov;101(5):856-865

Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1J4, Canada. Electronic address:

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November 2017

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Authors:
Chae Syng Lee He Fu Nissan Baratang Justine Rousseau Heena Kumra V Reid Sutton Marcello Niceta Andrea Ciolfi Guilherme Yamamoto Débora Bertola Carlo L Marcelis Dorien Lugtenberg Andrea Bartuli Choel Kim Julie Hoover-Fong Nara Sobreira Richard Pauli Carlos Bacino Deborah Krakow Jillian Parboosingh Patrick Yap Ariana Kariminejad Marie T McDonald Mariana I Aracena Ekkehart Lausch Sheila Unger Andrea Superti-Furga James T Lu Dan H Cohn Marco Tartaglia Brendan H Lee Dieter P Reinhardt Philippe M Campeau

Am J Hum Genet 2017 Nov;101(5):815-823

Centre Hospitalier Universitaire Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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November 2017

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Authors:
Ronit Marom Mahim Jain Lindsay C Burrage I-Wen Song Brett H Graham Chester W Brown Servi J C Stevens Alexander P A Stegmann Andrew T Gunter Julie D Kaplan Ralitza H Gavrilova Marwan Shinawi Jill A Rosenfeld Yangjin Bae Alyssa A Tran Yuqing Chen James T Lu Richard A Gibbs Christine Eng Yaping Yang Justine Rousseau Bert B A de Vries Philippe M Campeau Brendan Lee

Hum Mutat 2017 10 10;38(10):1365-1371. Epub 2017 Jul 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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October 2017

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

Authors:
Kezhi Yan Justine Rousseau Rebecca Okashah Littlejohn Courtney Kiss Anna Lehman Jill A Rosenfeld Constance T R Stumpel Alexander P A Stegmann Laurie Robak Fernando Scaglia Thi Tuyet Mai Nguyen He Fu Norbert F Ajeawung Maria Vittoria Camurri Lin Li Alice Gardham Bianca Panis Mohammed Almannai Maria J Guillen Sacoto Berivan Baskin Claudia Ruivenkamp Fan Xia Weimin Bi Megan T Cho Thomas P Potjer Gijs W E Santen Michael J Parker Natalie Canham Margaret McKinnon Lorraine Potocki Jennifer J MacKenzie Elizabeth R Roeder Philippe M Campeau Xiang-Jiao Yang

Am J Hum Genet 2017 Jan 8;100(1):91-104. Epub 2016 Dec 8.

Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada. Electronic address:

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January 2017

The catalytic activity of the mitogen-activated protein kinase extracellular signal-regulated kinase 3 is required to sustain CD4+ CD8+ thymocyte survival.

Authors:
Miriam Marquis Jean-François Daudelin Salix Boulet Julien Sirois Karinn Crain Simon Mathien Benjamin Turgeon Justine Rousseau Sylvain Meloche Nathalie Labrecque

Mol Cell Biol 2014 Sep 7;34(18):3374-87. Epub 2014 Jul 7.

Maisonneuve-Rosemont Hospital Research Centre, Montreal, Quebec, Canada Department of Microbiology, Infectiology and Immunology, University of Montreal, Montreal, Quebec, Canada Department of Medicine, University of Montreal, Montreal, Quebec, Canada

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September 2014

The non-classical MAP kinase ERK3 controls T cell activation.

Authors:
Miriam Marquis Salix Boulet Simon Mathien Justine Rousseau Paméla Thébault Jean-François Daudelin Julie Rooney Benjamin Turgeon Claudine Beauchamp Sylvain Meloche Nathalie Labrecque

PLoS One 2014 27;9(1):e86681. Epub 2014 Jan 27.

Maisonneuve-Rosemont Hospital Research Centre, Montreal, Quebec, Canada ; Department of Microbiology, Infectiology and Immunology, University of Montreal, Quebec, Canada ; Department of Medicine, University of Montreal, Quebec, Canada.

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September 2014

Discovery of cell compartment specific protein-protein interactions using affinity purification combined with tandem mass spectrometry.

Authors:
Mathieu Lavallée-Adam Justine Rousseau Céline Domecq Annie Bouchard Diane Forget Denis Faubert Mathieu Blanchette Benoit Coulombe

J Proteome Res 2013 Jan 4;12(1):272-81. Epub 2012 Dec 4.

McGill Centre for Bioinformatics and School of Computer Science, McGill University, Montréal, Québec H3A 2B4, Canada.

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January 2013

Targeted inactivation of Mapk4 in mice reveals specific nonredundant functions of Erk3/Erk4 subfamily mitogen-activated protein kinases.

Authors:
Justine Rousseau Sonia Klinger Adeline Rachalski Benjamin Turgeon Paul Déléris Erika Vigneault Jean-François Poirier-Héon Maria Antonietta Davoli Naguib Mechawar Salah El Mestikawy Nicolas Cermakian Sylvain Meloche

Mol Cell Biol 2010 Dec 18;30(24):5752-63. Epub 2010 Oct 18.

Institut de Recherche en Immunologie et Cancérologie, Université de Montréal, Montreal, Quebec, Canada.

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December 2010

Activation loop phosphorylation of the atypical MAP kinases ERK3 and ERK4 is required for binding, activation and cytoplasmic relocalization of MK5.

Authors:
Paul Déléris Justine Rousseau Philippe Coulombe Geneviève Rodier Pierre-Luc Tanguay Sylvain Meloche

J Cell Physiol 2008 Dec;217(3):778-88

Institut de Recherche en Immunologie et Cancérologie, Montreal, Quebec, Canada.

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December 2008