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P

Philippe M. Campeau

University of Montreal and CHU Sainte-Justine
H指数:59
被引数:1.1万

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The minor spliceosome component U4atac regulates JAK/STAT signaling to modulate hematopoiesis and immune responses in Drosophila melanogaster

U4atac小分子剪接体组分调控JAK/STAT信号通路以调节黑腹果蝇的造血和免疫应答

Nature Communications
IF15.7
2026-07-160
OA
Dania 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
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的从头变异与神经发育障碍有关

Nature Communications
IF15.7
2026-01-230
OA
Kevin 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
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

DENND2B基因的变异与神经发育障碍、精神病和紧张症的易感性相关。Brain

Brain
IF11.7
2026-01-011
PRE
Murthy, 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
Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

elosulfase alfa酶替代疗法在MPS IVA成人中的长期疗效：Morquio A登记研究（MARS）的亚组分析

Orphanet Journal of Rare Diseases
IF3.5
2025-10-310
OAAI
Karolina 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
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异通过损害突触功能导致神经发育综合征

Nature Genetics
IF29
2025-10-220
OAAI
Reza 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
PIGC-related encephalopathy: Lessons learned from 18 new probands

PIGC相关的脑病：从18例新先证者中获得的经验教训

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2025-09-010
PRE
Bayat, 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.
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia

一种缺失的酶-拯救代谢物作为罕见骨骼发育不良的病因

Nature
IF48.5
2025-08-200
OA
Jean 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
Neurobehavioral profile of individuals with pathogenic variants in CHD3

CHD3基因致病性变异个体的神经行为特征

European Journal of Human Genetics
IF4.6
2025-08-190
OA
Anca 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
Corrigendum to “Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)” [Bone 197 (2025) 117477]

勘误：“Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)” [Bone 197 (2025) 117477]

Bone
IF3.6
2025-08-060
OAAI
Steven 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
Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW

由于PIGW新型双等位致病性变异导致的糖基磷脂酰肌醇生物合成缺陷

PEDIATRIC NEUROLOGY
IF2.1
2025-06-010
OAAI
Rabouhi, 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.

研究方向

暂未获取到该数据
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Justine Rousseau
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B
Brendan Lee
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T
Thi Tuyet Mai Nguyen
H 指数:16论文数:39被引数:1,104
J
Jill A. Rosenfeld
H 指数:93论文数:621被引数:3.0万
B
Boris Keren
H 指数:60论文数:379被引数:1.3万
R
Richard A. Gibbs
H 指数:190论文数:1,341被引数:28.1万
Y
Yoshiko Murakami
H 指数:49论文数:249被引数:6,665
S
Sophie Ehresmann
H 指数:11论文数:21被引数:645
T
Taroh Kinoshita
H 指数:88论文数:435被引数:2.5万
C
Caroline Nava
H 指数:51论文数:159被引数:8,755