Philippe M Campeau

Affiliations
  • CHU Sainte-Justine Research Center, Université de Montréal, Montreal, QC, Canada.
  • Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada.

Publications (35)

Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the

Frontiers in neurology
Avec: Dénes Zádori , Levente Szalárdy , Zita Reisz , Gabor G Kovacs , Rita Maszlag-Török , Norbert F Ajeawung , László Vécsei , Philippe M Campeau , Péter Klivényi

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

Science advances
Avec: 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

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca

American journal of human genetics
Avec: Christiane K Bauer , Pauline E Schneeberger , Fanny Kortüm , Janine Altmüller , Fernando Santos-Simarro , Laura Baker , Jennifer Keller-Ramey , Susan M White , Philippe M Campeau , Karen W Gripp , Kerstin Kutsche

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

American journal of human genetics
Avec: 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

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Bettina E Mucha , Siddharth Banka , Norbert Fonya Ajeawung , Sirinart Molidperee , Gary G Chen , Mary Kay Koenig , Rhamat B Adejumo , Marianne Till , Michael Harbord , Renee Perrier , Emmanuelle Lemyre , Renee-Myriam Boucher , Brian G Skotko , Jessica L Waxler , Mary Ann Thomas , Jennelle C Hodge , Jozef Gecz , Jillian Nicholl , Lesley McGregor , Tobias Linden , Sanjay M Sisodiya , Damien Sanlaville , Sau W Cheung , Carl Ernst , Philippe M Campeau

Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

Trials
Avec: Alison H Howie , Kylie Tingley , Michal Inbar-Feigenberg , John J Mitchell , Nancy J Butcher , Martin Offringa , Maureen Smith , Kim Angel , Jenifer Gentle , Alexandra Wyatt , Philippe M Campeau , Alicia Chan , Pranesh Chakraborty , Farah El Turk , Eva Mamak , Aizeddin Mhanni , Becky Skidmore , Rebecca Sparkes , Sylvia Stockler , Beth K Potter , Auteur inconnu

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

HGG advances
Avec: Michael A Levy , Haley McConkey , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Robin S Fletcher , Florian Cherik , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie Ruiz Pallares , Maria Piccione , Simone Pizzi , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Raissa Relator , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella Maria Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Kristin D Kerrnohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in

Neurology. Genetics
Avec: Alison M R Castle , Smrithi Salian , Haim Bassan , Efrat Sofrin-Drucker , Raffaella Cusmai , Kristin C Herman , Delphine Heron , Boris Keren , Devon L Johnstone , Wendy Mears , Susanne Morlot , Thi Tuyet Mai Nguyen , Rachel Rock , Elliot Stolerman , Julia Russo , William Boyce Burns , Julie R Jones , Valentina Serpieri , Hannah Wallaschek , Ginevra Zanni , David A Dyment , Philippe M Campeau

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

American journal of human genetics
Avec: Xenia Latypova , Marie Vincent , Alice Mollé , Oluwadamilare A Adebambo , Cynthia Fourgeux , Tahir N Khan , Alfonso Caro , Monica Rosello , Carmen Orellana , Dmitriy Niyazov , Damien Lederer , Marie Deprez , Yline Capri , Peter Kannu , Anne Claude Tabet , Jonathan Levy , Emmelien Aten , Nicolette den Hollander , Miranda Splitt , Jagdeep Walia , Ladonna L Immken , Pawel Stankiewicz , Kirsty McWalter , Sharon Suchy , Raymond J Louie , Shannon Bell , Roger E Stevenson , Justine Rousseau , Catherine Willem , Christelle Retiere , Xiang-Jiao Yang , Philippe M Campeau , Francisco Martinez , Jill A Rosenfeld , Cédric Le Caignec , Sébastien Küry , Sandra Mercier , Kamran Moradkhani , Solène Conrad , Thomas Besnard , Benjamin Cogné , Nicholas Katsanis , Stéphane Bézieau , Jeremie Poschmann , Erica E Davis , Bertrand Isidor

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

American journal of human genetics
Avec: 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

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Human genetics
Avec: Ilaria Parenti , Daphné Lehalle , Caroline Nava , Erin Torti , Elsa Leitão , Richard Person , Takeshi Mizuguchi , Naomichi Matsumoto , Mitsuhiro Kato , Kazuyuki Nakamura , Stella A de Man , Heidi Cope , Vandana Shashi , Auteur inconnu , Jennifer Friedman , Pascal Joset , Katharina Steindl , Anita Rauch , Irena Muffels , Peter M van Hasselt , Florence Petit , Thomas Smol , Gwenaël Le Guyader , Frédéric Bilan , Arthur Sorlin , Antonio Vitobello , Christophe Philippe , Ingrid M B H van de Laar , Marjon A van Slegtenhorst , Philippe M Campeau , Ping Yee Billie Au , Mitsuko Nakashima , Hirotomo Saitsu , Tatsuya Yamamoto , Yumiko Nomura , Raymond J Louie , Michael J Lyons , Amy Dobson , Astrid S Plomp , M Mahdi Motazacker , Frank J Kaiser , Andrew T Timberlake , Sabine A Fuchs , Christel Depienne , Cyril Mignot

Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.

JCI insight
Avec: Mary E McQuaid , Kashif Ahmed , Stephanie Tran , Justine Rousseau , Ranad Shaheen , Kristin D Kernohan , Kyoko E Yuki , Prerna Grover , Ema S Dreseris , Sameen Ahmed , Lucie Dupuis , Jennifer Stimec , Mary Shago , Zuhair N Al-Hassnan , Roch Tremblay , Philipp G Maass , Michael D Wilson , Eyal Grunebaum , Kym M Boycott , François-Michel Boisvert , Sateesh Maddirevula , Eissa A Faqeih , Fahad Almanjomi , Zaheer Ullah Khan , Fowzan S Alkuraya , Philippe M Campeau , Peter Kannu , Eric I Campos , Hugo Wurtele

PIGG variant pathogenicity assessment reveals characteristic features within 19 families.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Camille Tremblay-Laganière , Reza Maroofian , Thi Tuyet Mai Nguyen , Ehsan Ghayoor Karimiani , Salman Kirmani , Fizza Akbar , Shahnaz Ibrahim , Bushra Afroze , Mohammad Doosti , Farah Ashrafzadeh , Meisam Babaei , Stephanie Efthymiou , Marilena Christoforou , Tipu Sultan , Roger L Ladda , Heather M McLaughlin , Rebecca Truty , Sonal Mahida , Julie S Cohen , Kristin Baranano , Fatima Y Ismail , Millan S Patel , Anna Lehman , Andrew C Edmondson , Amanda Nagy , Melissa A Walker , Saadet Mercimek-Andrews , Yuta Maki , Rani Sachdev , Rebecca Macintosh , Elizabeth E Palmer , Grazia M S Mancini , Tahsin Stefan Barakat , Robert Steinfeld , Christina T Rüsch , Georg M Stettner , Matias Wagner , Saskia B Wortmann , Usha Kini , Angela F Brady , Karen L Stals , Naila Ismayilova , Sian Ellard , Danilo Bernardo , Kimberly Nugent , Scott D McLean , Stylianos E Antonarakis , Henry Houlden , Taroh Kinoshita , Philippe M Campeau , Yoshiko Murakami

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.

Clinical genetics
Avec: Smrithi Salian , Marcello Scala , Thi Tuyet Mai Nguyen , Mariasavina Severino , Andrea Accogli , Elisabetta Amadori , Annalaura Torella , Michele Pinelli , Beth Hudson , Megan Boothe , Anna Hurst , Tawfeg Ben-Omran , Martin J Larsen , Christina R Fagerberg , Lene Sperling , Ieva Miceikaite , Lucas Herissant , Martine Doco-Fenzy , Mélanie Jennesson , Vincenzo Nigro , Pasquale Striano , Carlo Minetti , Rani K Sachdev , Emma Elizabeth Palmer , Valeria Capra , Philippe M Campeau

Fibronectin isoforms in skeletal development and associated disorders.

American journal of physiology. Cell physiology
Avec: Neha E H Dinesh , Philippe M Campeau , Dieter P Reinhardt

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

HGG advances
Avec: Lot Snijders Blok , Jolijn Verseput , Dmitrijs Rots , Hanka Venselaar , A Micheil Innes , Connie Stumpel , Katrin Õunap , Karit Reinson , Eleanor G Seaby , Shane McKee , Barbara Burton , Katherine Kim , Johanna M van Hagen , Quinten Waisfisz , Pascal Joset , Katharina Steindl , Anita Rauch , Dong Li , Elaine H Zackai , Sarah E Sheppard , Beth Keena , Hakon Hakonarson , Andreas Roos , Nicolai Kohlschmidt , Anna Cereda , Maria Iascone , Erika Rebessi , Kristin D Kernohan , Philippe M Campeau , Francisca Millan , Jesse A Taylor , Hanns Lochmüller , Martin R Higgs , Amalia Goula , Birgitta Bernhard , Danita J Velasco , Andrew A Schmanski , Zornitza Stark , Lyndon Gallacher , Lynn Pais , Paul C Marcogliese , Shinya Yamamoto , Nicholas Raun , Taryn E Jakub , Jamie M Kramer , Joery den Hoed , Simon E Fisher , Han G Brunner , Tjitske Kleefstra

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Pediatric neurology
Avec: Maria Carla Borroto , Heena Patel , Siddharth Srivastava , Lindsay C Swanson , Boris Keren , Sandra Whalen , Cyril Mignot , Xiaodong Wang , Qian Chen , Jill A Rosenfeld , Scott McLean , Rebecca O Littlejohn , Auteur inconnu , Lisa Emrick , Lindsay C Burrage , Ruben Attali , Gaetan Lesca , Cecile Acquaviva-Bourdain , Catherine Sarret , Laurie H Seaver , Konrad Platzer , Tobias Bartolomaeus , Cornelia Wünsch , Susann Fischer , Ana Maria Rodriguez Barreto , Jorge L Granadillo , Elisabeth Schreiner , Theresa Brunet , Ulrich A Schatz , Isabelle Thiffault , Sureni V Mullegama , Jacques L Michaud , Fadi F Hamdan , Elsa Rossignol , Philippe M Campeau

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

Annals of neurology
Avec: Christopher J Record , Antoinette O'Connor , Nienke E Verbeek , Wouter van Rheenen , Eleni Zamba Papanicolaou , Stojan Peric , Peter C Ligthart , Mariola Skorupinska , Ellen van Binsbergen , Philippe M Campeau , Vukan Ivanovic , Brian Hennigan , John C McHugh , Julian C Blake , Yoshiko Murakami , Matilde Laura , Sinéad M Murphy , Mary M Reilly

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Li Xin Zhang , Gabrielle Lemire , Claudia Gonzaga-Jauregui , Sirinart Molidperee , Carolina Galaz-Montoya , David S Liu , Alain Verloes , Amelle G Shillington , Kosuke Izumi , Alyssa L Ritter , Beth Keena , Elaine Zackai , Dong Li , Elizabeth Bhoj , Jennifer M Tarpinian , Emma Bedoukian , Mary K Kukolich , A Micheil Innes , Grace U Ediae , Sarah L Sawyer , Karippoth Mohandas Nair , Para Chottil Soumya , Kinattinkara R Subbaraman , Frank J Probst , Jennifer A Bassetti , Reid V Sutton , Richard A Gibbs , Chester Brown , Philip M Boone , Ingrid A Holm , Marco Tartaglia , Giovanni Battista Ferrero , Marcello Niceta , Maria Lisa Dentici , Francesca Clementina Radio , Boris Keren , Constance F Wells , Christine Coubes , Annie Laquerrière , Jacqueline Aziza , Charlotte Dubucs , Sheela Nampoothiri , David Mowat , Millan S Patel , Ana Bracho , Francisco Cammarata-Scalisi , Alper Gezdirici , Alberto Fernandez-Jaen , Natalie Hauser , Yuri A Zarate , Katherine A Bosanko , Klaus Dieterich , John C Carey , Jessica X Chong , Deborah A Nickerson , Michael J Bamshad , Brendan H Lee , Xiang-Jiao Yang , James R Lupski , Philippe M Campeau

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

American journal of human genetics
Avec: 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

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

American journal of human genetics
Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , 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

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

Nature communications
Avec: 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 , Auteur inconnu , 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

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

Nature communications
Avec: 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 , Auteur inconnu , 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

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: René G Feichtinger , Bettina E Mucha , Holger Hengel , Zakaria Orfi , Christine Makowski , Junio Dort , Guy D'Anjou , Thi Tuyet Mai Nguyen , Rebecca Buchert , Hendrik Juenger , Peter Freisinger , Sarah Baumeister , Benedikt Schoser , Uwe Ahting , Reinhard Keimer , Cam-Tu Emilie Nguyen , Paul Fabre , Julie Gauthier , Marguerite Miguet , Fátima Lopes , Afnan AlHakeem , Amal AlHashem , Brahim Tabarki , Krishna Kumar Kandaswamy , Peter Bauer , Peter Steinbacher , Holger Prokisch , Marc Sturm , Tim M Strom , Benjamin Ellezam , Johannes A Mayr , Ludger Schöls , Jacques L Michaud , Philippe M Campeau , Tobias B Haack , Nicolas A Dumont

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Bone
Avec: Alice Costantini , Helena Valta , Nissan Vida Baratang , Patrick Yap , Débora R Bertola , Guilherme L Yamamoto , Chong A Kim , Jiani Chen , Klaas J Wierenga , Elizabeth A Fanning , Luis Escobar , Kirsty McWalter , Heather McLaughlin , Rebecca Willaert , Amber Begtrup , Jessica J Alm , Dieter P Reinhardt , Outi Mäkitie , Philippe M Campeau

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.

Molecular genetics & genomic medicine
Avec: Nissan Vida Baratang , Daniel Alexander Jimenez Cruz , Norbert Fonya Ajeawung , Thi Tuyet Mai Nguyen , Guillermo Pacheco-Cuéllar , Philippe M Campeau

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Nature reviews. Endocrinology
Avec: Ravi Savarirayan , Penny Ireland , Melita Irving , Dominic Thompson , Inês Alves , Wagner A R Baratela , James Betts , Michael B Bober , Silvio Boero , Jenna Briddell , Jeffrey Campbell , Philippe M Campeau , Patricia Carl-Innig , Moira S Cheung , Martyn Cobourne , Valérie Cormier-Daire , Muriel Deladure-Molla , Mariana Del Pino , Heather Elphick , Virginia Fano , Brigitte Fauroux , Jonathan Gibbins , Mari L Groves , Lars Hagenäs , Therese Hannon , Julie Hoover-Fong , Morrys Kaisermann , Antonio Leiva-Gea , Juan Llerena , William Mackenzie , Kenneth Martin , Fabio Mazzoleni , Sharon McDonnell , Maria Costanza Meazzini , Josef Milerad , Klaus Mohnike , Geert R Mortier , Amaka Offiah , Keiichi Ozono , John A Phillips , Steven Powell , Yosha Prasad , Cathleen Raggio , Pablo Rosselli , Judith Rossiter , Angelo Selicorni , Marco Sessa , Mary Theroux , Matthew Thomas , Laura Trespedi , David Tunkel , Colin Wallis , Michael Wright , Natsuo Yasui , Svein Otto Fredwall

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study.

Orphanet journal of rare diseases
Avec: Lina Moisan , David Iannuzzi , Bruno Maranda , Philippe M Campeau , John J Mitchell

C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.

Human genetics
Avec: Smrithi Salian , Xin-Yu Guo , Yoshiko Murakami , Taroh Kinoshita , Parneet Kaur , Anju Shukla , Katta M Girisha , Morihisa Fujita , Philippe M Campeau

An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy.

American journal of medical genetics. Part A
Avec: Al-Alya AlSabah , Mohammed Alsalmi , Rami Massie , Marie-Claude Bilodeau , Philippe M Campeau , Serge McGraw , Maria Daniela D'Agostino

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Brain : a journal of neurology
Avec: Kari A Mattison , Gilles Tossing , Fred Mulroe , Callum Simmons , Kameryn M Butler , Alison Schreiber , Adnan Alsadah , Derek E Neilson , Karin Naess , Anna Wedell , Anna Wredenberg , Arthur Sorlin , Emma McCann , George J Burghel , Beatriz Menendez , George E Hoganson , Lorenzo D Botto , Francis M Filloux , Ángel Aledo-Serrano , Antonio Gil-Nagel , Katrina Tatton-Brown , Nienke E Verbeek , Bert van der Zwaag , Kyrieckos A Aleck , Andrew C Fazenbaker , Jorune Balciuniene , Holly A Dubbs , Eric D Marsh , Kathryn Garber , Jakob Ek , Morten Duno , Christina E Hoei-Hansen , Matthew A Deardorff , Gordana Raca , Catherine Quindipan , Michele van Hirtum-Das , Jeroen Breckpot , Trine Bjørg Hammer , Rikke S Møller , Andrea Whitney , Andrew G L Douglas , Mira Kharbanda , Nicola Brunetti-Pierri , Manuela Morleo , Vincenzo Nigro , Halie J May , James X Tao , Emanuela Argilli , Elliot H Sherr , William B Dobyns , Auteur inconnu , Richard A Baines , Jim Warwicker , J Alex Parker , Siddharth Banka , Philippe M Campeau , Andrew Escayg

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with

Epigenomics
Avec: Niels Vos , Jack Reilly , Mariet W Elting , Philippe M Campeau , David Coman , Zornitza Stark , Tiong Yang Tan , David J Amor , Simran Kaur , Miya StJohn , Angela T Morgan , Benjamin A Kamien , Chirag Patel , Matthew L Tedder , Giuseppe Merla , Paolo Prontera , Marco Castori , Kai Muru , Felicity Collins , John Christodoulou , Janine Smith , Bruria Ben Zeev , Alessandra Murgia , Emanuela Leonardi , Natacha Esber , Antonio Martinez-Monseny , Didac Casas-Alba , Matthew Wallis , Marcel Mannens , Michael A Levy , Raissa Relator , Marielle Alders , Bekim Sadikovic

Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies.

HGG advances
Avec: Giovanna Carpentieri , Serena Cecchetti , Gianfranco Bocchinfuso , Francesca Clementina Radio , Chiara Leoni , Roberta Onesimo , Paolo Calligari , Agostina Pietrantoni , Andrea Ciolfi , Marco Ferilli , Cristina Calderan , Gerarda Cappuccio , Simone Martinelli , Elena Messina , Viviana Caputo , Ulrike Hüffmeier , Cyril Mignot , Stéphane Auvin , Yline Capri , Charles Marques Lourenco , Bianca E Russell , Ahna Neustad , Nicola Brunetti Pierri , Boris Keren , André Reis , Julie S Cohen , Alexis Heidlebaugh , Clay Smith , Christian T Thiel , Leonardo Salviati , Giuseppe Zampino , Philippe M Campeau , Lorenzo Stella , Marco Tartaglia , Elisabetta Flex

DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Eliane Beauregard-Lacroix , Guillermo Pacheco-Cuellar , Norbert F Ajeawung , Jessica Tardif , Klaus Dieterich , Tabib Dabir , Dina Vind-Kezunovic , Susan M White , Denes Zadori , Claudia Castiglioni , Lisbeth Tranebjærg , Pernille Mathiesen Tørring , Ed Blair , Marzena Wisniewska , Maria Vittoria Camurri , Yolande van Bever , Sirinart Molidperee , Juliet Taylor , Alexandre Dionne-Laporte , Sanjay M Sisodiya , Raoul C M Hennekam , Philippe M Campeau

MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction.

JCI insight
Avec: Jad I Belle , HanChen Wang , Amanda Fiore , Jessica C Petrov , Yun Hsiao Lin , Chu-Han Feng , Thi Tuyet Mai Nguyen , Jacky Tung , Philippe M Campeau , Uta Behrends , Theresa Brunet , Gloria Sarah Leszinski , Philippe Gros , David Langlais , Anastasia Nijnik

Réseau de co-auteurs

Justine Rousseau 10 collaborations
None None 7 collaborations
Boris Keren 7 collaborations
Thi Tuyet Mai Nguyen 7 collaborations
Raymond J Louie 5 collaborations
Marco Tartaglia 5 collaborations
Han G Brunner 4 collaborations
Andrea Ciolfi 4 collaborations
Laurence Faivre 4 collaborations
Steven A Skinner 4 collaborations
Jill A Rosenfeld 4 collaborations
Cyril Mignot 4 collaborations
Yoshiko Murakami 4 collaborations
A Micheil Innes 4 collaborations
Tjitske Kleefstra 4 collaborations
Natacha Esber 3 collaborations
Kirsty McWalter 3 collaborations
Xiang-Jiao Yang 3 collaborations
Sophie Ehresmann 3 collaborations
Ingrid M Wentzensen 3 collaborations
Stephanie Efthymiou 3 collaborations
Henry Houlden 3 collaborations
Jacques L Michaud 3 collaborations
Siddharth Banka 3 collaborations
Sirinart Molidperee 3 collaborations
Jozef Gecz 3 collaborations
Michael A Levy 3 collaborations
Christel Thauvin-Robinet 3 collaborations
Roger E Stevenson 3 collaborations
Antonio Vitobello 3 collaborations
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Lot Snijders Blok 3 collaborations
Hanka Venselaar 3 collaborations
Simon E Fisher 3 collaborations
Ellen van Binsbergen 3 collaborations
Lance H Rodan 3 collaborations
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André Reis 3 collaborations
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Norbert F Ajeawung 2 collaborations
Isabelle Thiffault 2 collaborations
Fernando Santos-Simarro 2 collaborations
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Tabib Dabir 2 collaborations
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Carl Ernst 2 collaborations
Bettina E Mucha 2 collaborations
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