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Geneviève Bernard

mcgill university

44H-index
263Paper Count
7.7KCitation Count
Published Papers 124
Publication Date
White matter disorders at the intersection of transcription, RNA processing and translation
err2026-08-03
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PREAI
errAlexandra Chapleau; Felipe Villa Tobón; Geneviève Bernard
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Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)
err2026-05-15
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PREAI
errAnjana Sevagamoorthy; Sarah Woidill; Gabrielle Sudilovsky; Kaleb Kelley; Ylenia Vaia; Francesco Gavazzi; Johanna L. Schmidt; Amy Pizzino; Russel D'Aiello; Eloise Uebergang; Fabio Bruschi; Amytice Mirchi; Chihiro Abe-Hatano; Jacapo Sartorelli; Francesco Nicita; Chloe Cunningham; Davide Tonduti; Enrico Bertini; Geneviève Bernard; Ken Inoue
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Corrigendum to “Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome” [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184]
err2026-03-11
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errOAAI
errBusra Aynekin; Tracy Lau; Rauan Kaiyrzhanov; Ioannis Papazoglou; Ayten Gulec; Ummu Gulsum Ozgul Gumus; Svetlana Gorokhova; Busa Tiffany; Leonardo Simão Medeiros; Ida Vanessa Doederlein Schwartz; Mehmet Burak Mutlu; Sofia Ourani; Anke Bergman; Kelly Schoch; Huseyin Per; Nurdeniz Nalbant Bingol; Sehime G. Temel; Serdar Durdağı; Semra Hız; Geneviève Bernard
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Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome
err2026-02-10
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errOAAI
errBusra Aynekin; Tracy Lau; Rauan Kaiyrzhanov; Ioannis Papazoglou; Ayten Gulec; Ummu Gulsum Ozgul Gumus; Svetlana Gorokhova; Busa Tiffany; Leonardo Simão Medeiros; Ida Vanessa Doederlein Schwartz; Mehmet Burak Mutlu; Sofia Ourani; Anke Bergman; Kelly Schoch; Huseyin Per; Nurdeniz Nalbant Bingol; Sehime G. Temel; Serdar Durdağı; Semra Hız; Geneviève Bernard
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The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative Study
err2025-12-16
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errAdam Le; Kelly-Ann Thibault; Pouneh Amir Yazdani; Alexandra Chapleau; Romy J. van Voorst; Enrico Bertini; Francesco Nicita; Daniela Pohl; Sunita Venkateswaran; Stephanie Keller; Deborah Renaud; Dolores Gonzalez Moron; Marcelo Kauffman; Danilo De Assis Pereira; Adeline Vanderver; Marjo S. van der Knaap; Maxime Morsa; Geneviève Bernard
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Developing a National Network for Leukodystrophy Research and Care in Canada
err2025-12-01
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PREAI
errChapleau, Alexandra; Le, Adam; Simo, Justin; Venkateswaran, Sunita; Lacaze-Masmonteil, Thierry; Piscopo, Valerio E. C.; Gauthier, Samuel; Villa Tobon, Felipe; Alam, Sabrina Shameen; Lentini, Laura; Brais, Bernard; Ernst, Carl; Mitchell, John J.; Vinh, Donald C.; Zhou, Yang; Kennedy, Timothy E.; Goloff, Naomi; Riham, Badawy; Chapleau, Ron; Smith, Ben; Greger, Valerie; Della Rocca, Josee; Louis, Lynda-Marie; Dike, Ashley; Mcintyre, Lindey L.; Mcintyre, David F.; Tardif, Jerome; Lapointe, Emilie; Barnett, Jennifer; Loignon, Valerie; Bardai, Ghalib; Contant, Sophie; Durcan, Thomas M.; La Piana, Roberta; Bernard, Genevieve
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Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes
err2025-11-30
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errTiziana Bachetti; Ylenia Vaia; Alice Grossi; Francesca Rosamilia; Enrico Bertini; Francesco Nicita; Deianira Bellitto; Florian Eichler; Geneviève Bernard; Amanda Nagy; Ayelet Zerem; Morteza Heidari; Ali Reza Tavasoli; Isabella Moroni; Isabella Ceccherini; Davide Tonduti
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A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms
err2025-11-28
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errOAAI
errChapleau, Alexandra; Perrier, Stefanie; Durcan, Thomas M.; Bernard, Genevieve
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Dynamic prediction of Radiotherapy toxicities in Head and neck cancer using clinical and imaging data
err2025-11-26
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PREAI
errC. Bang; H. Gautier; W.T. Le; A. Lalonde; G. Bernard; D. Markel; F. Nguyen-Tan; E. Filion; B. O’Sullivan; T. Ayad; A. Christopoulos; E. Bissada; L. Guertin; D. Soulières; L. Létourneau-Guillon; S. Kadoury; H. Bahig
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Critical functional domains in pediatric onset TUBB4A-related leukodystrophy: a clinical and caregiver’s perspective
err2025-10-03
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PREAI
errFrancesco Gavazzi; Virali Patel; Jacqueline A. Erler; Brittany Charsar; Ylenia Vaia; Anjana Sevagamoorthy; Ariel Vincent; Sarah Woidill; Evangeline Wassmer; Henry Houlden; Angeles Garcia- Cazorla; Davide Tonduti; Nicole I. Wolf; Marjo Van der Knaap; Geneviève Bernard; Laura A. Adang; Adeline Vanderver
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The impact of vanishing white matter on unaffected family members
err2025-08-28
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errRomy J. van Voorst; Daphne H. Schoenmakers; Irene van Beelen; Francesco Gavazzi; Alexandra Chapleau; Adeline Vanderver; Geneviève Bernard; Ingeborg Krägeloh-Mann; Marjo S. van der Knaap
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Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders
err2025-07-18
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errMackenzie A. Michell-Robinson; Stefanie Perrier; Samuel Gauthier; Alexa Derksen; Quentin Sabbagh; Mathias Girbig; Agata D. Misiaszek; Amy M. Pizzino; Deborah L. Renaud; Danilo De Assis Pereira; Paola Okuda; Luciana Maestri Karoleska; Stephanie Keller; Karen Chong; Laurence Gauquelin; Bernard Brais; Barbara Leube; Tiffany Grider; Michael E. Shy; Rebecca Schüle; Martina Minnerop; Enrico Bertini; Francesco Nicita; Davide Tonduti; Christoph W. Müller; Adeline Vanderver; Nicole I. Wolf; Geneviève Bernard
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Single cell RNAseq to identify subpopulations of glial progenitors in iPSC-derived oligodendroglial lineage cultures
err2025-04-15
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errOAAI
errBlaszczyk, Gabriela J.; Piscopo, Valerio E. C.; Goldsmith, Taylor M.; Chapleau, Alexandra; Sirois, Julien; Bernard, Genevieve; Antel, Jack P.; Durcan, Thomas M.
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MBOAT7 encephalopathy: Characterizing the neurology and epileptology
err2025-03-21
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errSebastian Ortiz De la Rosa; Valentina Rizzo; Robin-Tobias Jauss; Tobias Bartolomaeus; Maria Escolar; Geneviève Bernard; Ralitza Gavrilova
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The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
err2025-03-01
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PREAI
errGavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L.
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POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System
err2025-02-01
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errOAAI
errLe, Adam; Thibault, Kelly-Ann; Yazdani, Pouneh Amir; Bertini, Enrico; Nicita, Francesco; Pohl, Daniela; Venkateswaran, Sunita; Keller, Stephanie; Renaud, Deborah; Moron, Dolores Gonzales; Kauffman, Marcelo; Pereira, Danilo De Assis; Vanderver, Adeline; Morsa, Maxime; Bernard, Genevie
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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia
err2024-09-30
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errSymonds, Joseph D.; Park, Kristen L.; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Genevieve; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie S.; Cutcutache, Ioana; Agathe, Jean-Madeleine de Sainte; Dyment, David; Elliot, Katherine S.; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; McTague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie-Laure; Wolf, Nicole I.; Wakeling, Emma L.; Yoon, Grace; Knight, Julian C.; Zuberi, Sameer M.
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Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
err2024-08-01
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PREAI
errAdang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Emilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe A.; Orchard, Paul; Gupta, Ashish O.; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krageloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L.
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Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy
err2024-07-31
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errOAAI
errPerrier, Stefanie; Macintosh, Julia; Misiaszek, Agata D.; Lambert, Gabrielle; Guerrero, Kether; Tran, Luan T.; Mueller, Christoph W.; Pastinen, Tomi; Maegawa, Gustavo H. B.; Thiffault, Isabelle; Bernard, Genevieve
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