All papers authored by Philippe Campeau
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2023
Elisabeth Bosch 
,
Bernt Popp ,
Esther Güse ,
Cindy Skinner ,
Pleuntje J. van der Sluijs ,
Isabelle Maystadt ,
Anna Maria Pinto ,
Alessandra Renieri ,
Lucia Pia Bruno,
Stefania Granata,
Carlo Marcelis ,
Özlem Baysal ,
Dewi Hartwich,
Laura Holthöfer ,
Bertrand Isidor
and 57 other authors
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,
Bernt Popp ,
Esther Güse ,
Cindy Skinner ,
Pleuntje J. van der Sluijs ,
Isabelle Maystadt ,
Anna Maria Pinto ,
Alessandra Renieri ,
Lucia Pia Bruno,
Stefania Granata,
Carlo Marcelis ,
Özlem Baysal ,
Dewi Hartwich,
Laura Holthöfer ,
Bertrand Isidor
and 57 other authors
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2022
Michael A. Levy,
Raissa Relator,
Haley McConkey,
Erinija Pranckeviciene,
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
and 77 other authors
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,
Andrea Ciolfi,
Angus Clarke ,
Barbara R. DuPont,
Mariet W. Elting,
Laurence Faivre
and 77 other authors
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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
and 14 other authors
,
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
and 14 other authors
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
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2021
Smrithi Salian ,
Marcello Scala ,
Thi Tuyet Mai Nguyen ,
Mariasavina Severino ,
Annalaura Torella ,
Michele Pinelli ,
Andrea Accogli,
Beth Hudson,
Elisabetta Amadori ,
Anna Hurst ,
Martin J. Larsen ,
Megan Boothe,
Lene Sperling,
Tawfeg Ben‐Omran,
Ieva Miceikaite
and 11 other authors
Download from onlinelibrary.wiley.com
,
Marcello Scala ,
Thi Tuyet Mai Nguyen ,
Mariasavina Severino ,
Annalaura Torella ,
Michele Pinelli ,
Andrea Accogli,
Beth Hudson,
Elisabetta Amadori ,
Anna Hurst ,
Martin J. Larsen ,
Megan Boothe,
Lene Sperling,
Tawfeg Ben‐Omran,
Ieva Miceikaite
and 11 other authors
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Anouk M. Olthof,
Alisa K. White,
Stephen Mieruszynski,
Karen Doggett,
Madisen F Lee,
Almahdi Chakroun,
Alice K Abdel Aleem,
Justine Rousseau ,
Cinzia Magnani,
Chaim M Roifman,
Philippe M Campeau ,
Joan K Heath,
Rahul N Kanadia
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,
Cinzia Magnani,
Chaim M Roifman,
Philippe M Campeau ,
Joan K Heath,
Rahul N Kanadia
Download from doi.org
2020
Camille Tremblay‐Laganière,
Rauan Kaiyrzhanov,
Reza Maroofian,
Thi Tuyet Mai Nguyen ,
Kamran Salayev,
Ilana T. Chilton,
Wendy K. Chung,
Jill A. Madden,
Chanika Phornphutkul,
Pankaj B. Agrawal,
Henry Houlden,
Philippe M. Campeau
,
Kamran Salayev,
Ilana T. Chilton,
Wendy K. Chung,
Jill A. Madden,
Chanika Phornphutkul,
Pankaj B. Agrawal,
Henry Houlden,
Philippe M. Campeau
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations
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T. Michael Yates ,
Philippe M. Campeau ,
Jamal Ghoumid,
Maria Kibaek,
Martin J. Larsen ,
Thomas Smol,
Sami Albaba,
Jens Michael Hertz ,
Meena Balasubramanian
,
Philippe M. Campeau ,
Jamal Ghoumid,
Maria Kibaek,
Martin J. Larsen ,
Thomas Smol,
Sami Albaba,
Jens Michael Hertz ,
Meena Balasubramanian
Biallelic variants in GLE1 with survival beyond neonatal period
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Theodore G. Drivas,
Dong Li,
Divya Nair,
Joseph T. Alaimo,
Mariëlle Alders,
Janine Altmüller ,
Tahsin Stefan Barakat ,
E. Martina Bebin,
Nicole L. Bertsch,
Patrick R. Blackburn ,
Alyssa Blesson,
Arjan M. Bouman,
Knut Brockmann,
Perrine Brunelle,
Margit Burmeister
and 50 other authors
Download from www.nature.com
,
Tahsin Stefan Barakat ,
E. Martina Bebin,
Nicole L. Bertsch,
Patrick R. Blackburn ,
Alyssa Blesson,
Arjan M. Bouman,
Knut Brockmann,
Perrine Brunelle,
Margit Burmeister
and 50 other authors
Download from www.nature.com
Lin Li,
Mohammad Ghorbani,
Monika Weisz-Hubshman,
Justine Rousseau ,
Isabelle Thiffault,
Rhonda E. Schnur,
Catherine Breen,
Renske Oegema ,
Marjan M. M. Weiss ,
Quinten Waisfisz,
Sara Welner,
Helen Kingston,
Jordan A. Hills,
Elles M. J. Boon,
Lina Basel-Salmon
and 19 other authors
,
Isabelle Thiffault,
Rhonda E. Schnur,
Catherine Breen,
Renske Oegema ,
Marjan M. M. Weiss ,
Quinten Waisfisz,
Sara Welner,
Helen Kingston,
Jordan A. Hills,
Elles M. J. Boon,
Lina Basel-Salmon
and 19 other authors
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
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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
and 17 other authors
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,
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
and 17 other authors
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2019
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
and 21 other authors
,
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
and 21 other authors
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
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2017
Simran Madan,
Wei Liu,
James T. Lu,
V. Reid Sutton,
Bryant Toth,
Priscilla Joe,
John R. Waterson,
Richard A. Gibbs,
Ignatia B. Van den Veyver,
Edward J. Lammer,
Philippe M. Campeau ,
Brendan H. Lee
Download from doi.org
,
Brendan H. Lee
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Huan-Chang Zeng,
Yangjin Bae,
Brian C. Dawson,
Yuqing Chen,
Terry Bertin,
Elda Munivez,
Philippe M. Campeau ,
Jianning Tao ,
Rui Chen,
Brendan H. Lee
Download from dx.doi.org
,
Jianning Tao ,
Rui Chen,
Brendan H. Lee
Download from dx.doi.org
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