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Philippe M. Campeau

University of Montreal and CHU Sainte-Justine

59H-index
354Paper Count
1.1WCitation Count
Published Papers 185
Publication Date
The minor spliceosome component U4atac regulates JAK/STAT signaling to modulate hematopoiesis and immune responses in Drosophila melanogaster
err2026-07-16
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errOAAI
errDania Shikara; Eden Bishop; Nathan Barton; Stephanie Makdissi; Senthilkumar Kailasam; Attila György; Daria E. Siekhaus; Maria Carla Borroto; Philippe M. Campeau; Linda Vong; Chaim M. Roifman; Brendon D. Parsons; Francesca Di Cara
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Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
err2026-07-07
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PREAI
errMarion Aubert Mucca; Roberto Mendoza-Londono; Valérie Cormier-Daire; Thomas Edouard; Lucie Dupuis; Andrew W. Howard; Olivier Patat; Hanna Faghfoury; Josh Silver; Renaud Touraine; Philippe M. Campeau; Alban Ziegler
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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders
err2026-01-23
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errOAAI
errKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard
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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
errBrain
IF11.7
err2026-01-01
err1
PREAI
errMurthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob
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Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome
err2026-01-01
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errOAAI
errde Souza, Carolina F. M.; Burton, Barbara K.; Campeau, Philippe M.; Giugliani, Roberto; Guffon, Nathalie; Lampe, Christina; Muschol, Nicole; Sivri, Serap; Solano, Martha; Stepien, Karolina M.
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Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report
err2025-11-01
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errOAAI
errAlnuaimi, Bashayer; Miranda, Valancy; Sbrocchi, Anne Marie; Campeau, Philippe M.; Campillo, Sarah; Lahiry, Piya
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Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)
err2025-10-31
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errOAAI
errKarolina M. Stepien; Barbara K. Burton; Michael B. Bober; Philippe M. Campeau; Carolyn Ellaway; Kaustuv Bhattacharya; Nathalie Guffon; David Hinds; Abigail Hunt; Alice Lail; Shuan-Pei Lin; Martin Magner; Elaine Murphy; Pascal Reisewitz; John J. Mitchell
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New cases expand the genotype, phenotype and therapeutic landscape of H syndrome
err2025-10-26
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errOAAI
errClément Triaille; Julie Beauchemin; Philippe M. Campeau; Hugo Chapdelaine; Julie Dery; Maria Kondyli; Grant Mitchell; Julie Powell; Sophie Turpin; Guilhem Cros; Fabien Touzot
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
err2025-10-22
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errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature
err2025-09-18
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PREAI
errChloé Geerts; Fernando Alvarez; Brian M. Gilfix; Matthew J. Schultz; Philippe M. Campeau
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Assessing in silico tools for accurate pathogenicity prediction in CHD nucleosome remodelers
err2025-09-02
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errOAAI
errNazim Rabouhi; Simon Guindon; Emilia Aisha Coleman; H.J. van Heesbeen; Celia M.T. Greenwood; Tianyuan Lu; Philippe M. Campeau
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Real-world experience of switching to taliglucerase among patients with Gaucher disease in Quebec: A case series
err2025-09-01
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errOAAI
errRizzolo, Angelo; Miron, Marie-Claude; Delisle, Jean-Francois; Alos, Nathalie; Campeau, Philippe M.; Mercier, Francois
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Early-onset systemic lupus erythematosus-ANCA-associated vasculitis overlap syndrome caused by DNASE1L3 deficiency
err2025-09-01
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errOAAI
errTriaille, Clement; Makita, Sohei; Cote, Kevin; Benoit, Genevieve; Campeau, Philippe M.; De Bruycker, Jean Jacques; Ra, Ai; McCord, Jon J.; Sayasith, Khampoun; Sutton, R. Bryan; Touzot, Fabien; Haddad, Elie; Reizis, Boris; Morin, Marie-Paule
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PIGC-related encephalopathy: Lessons learned from 18 new probands
err2025-09-01
err0
PREAI
errBayat, Allan; Borroto, Maria Carla; Salian, Smrithi; Zaki, Maha S.; Benkerroum, Hind; Elbendary, Hasnaa M.; Nguyen, Thi Tuyet Mai; Sadek, Abdelrahim A.; Carli, Diana; Brusco, Alfredo; Ferrero, Giovanni Battista; Tartaglia, Marco; Hay, Eleanor; Krey, Ilona; A. Jamra, Rami; Bartolomaeus, Tobias; Knaus, Alexej; Gleeson, Joseph G.; Houlden, Henry; Dominik, Natalia; Jackson, Adam; Douzgou Houge, Sofia; Banka, Siddharth; Mohammadi-asl, Javad; Hajjari, Mohammadreza; Azizimalamiri, Reza; Nourbakhsh, Pardis; Neissi, Mostafa; Scardamaglia, Annarita; Li, Dianfan; Kinoshita, Taroh; Maroofian, Reza; Murakami, Yoshiko; Campeau, Philippe M.
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Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
err2025-08-21
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errOAAI
errAkram Mokhtari; Jade Charbonneau; Valancy Miranda; Khadijé Jizi; Marie-Ange Delrue; Patricia Egerszegi; Isabelle Thiffault; Philippe M. Campeau
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A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia
errNature
IF48.5
err2025-08-20
err0
errOAAI
errJean Jacobs; Hristiana Lyubenova; Sven Potelle; Johannes Kopp; Isabelle Gerin; Wing Lee Chan; Miguel Rodriguez de los Santos; Wiebke Hülsemann; Martin A. Mensah; Valérie Cormier-Daire; Marieke Joosten; Hennie T. Bruggenwirth; Kyra E. Stuurman; Valancy Miranda; Philippe M. Campeau; Lars Wittler; Julie Graff; Stefan Mundlos; Daniel M. Ibrahim; Emile Van Schaftingen; Björn Fischer-Zirnsak; Uwe Kornak; Nadja Ehmke; Guido T. Bommer
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Neurobehavioral profile of individuals with pathogenic variants in CHD3
err2025-08-19
err0
errOAAI
errAnca Ionescu; Emmanuelle Mazur-Lainé; Mélodie Proteau-Lemieux; Inga S. Knoth; Keely Vachon; Kerri Whitlock; Hazel Maridith Barlanhan Biag; Nazim Rabouhi; Hendrikus J. Van Heesbeen; Sébastien Jacquemont; David Hessl; Leonard Abbeduto; Evdokia Anagnostou; François Bolduc; Randi J. Hagerman; Philippe M. Campeau; Sarah Lippé
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Corrigendum to “Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)” [Bone 197 (2025) 117477]
errBone
IF3.6
err2025-08-06
err0
errOAAI
errSteven Mumm; José L. Paz-Ibarra; Philippe M. Campeau; Elizabeth Garrido-Carrasco; Jonathan C. Baker; Ethel Pino-Nina; Shenghui Duan; William H. McAlister; Michael P. Whyte
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Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
err2025-07-28
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PREAI
errBenoit Mazel; Emilia Aisha Coleman; Justine Rousseau; Senthilkumar Kailasam; Norbert Fonya Ajeawung; Daniel Alexander Jimenez Cruz; Sophie Ehresmann; Gang Chen; Carl Ernst; Philippe M. Campeau
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Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW
err2025-06-01
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errOAAI
errRabouhi, Nazim; Salian, Smrithi; Benkerroum, Hind; Yoshida, Takeshi; Uddin, Humayra; Nguyen, Thi Tuyet Mai; Fujita, Takako; Hirose, Shinichi; Kosaki, Kenjiro; Lefebvre, Mathilde; Bourgon, Nicolas; Thauvin-Robinet, Christel; Kamalova, Aelita; Shakhirova, Almaziya; Gill, Harinder; Lee, Hyun Kyung; Menke, Leonie A.; Kinoshita, Taroh; Murakami, Yoshiko; Campeau, Philippe M.
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