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G

Geneviève Bernard

mcgill university
H指数:44
被引数:7,731

个人简介

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荣誉奖项

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Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)

佩利扎厄斯-默茨巴赫病患者的发展轨迹

Molecular Genetics and Metabolism
IF3.5
2026-05-150
PRE
Anjana 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
Toward a Neuroimaging Consensus for the Work-up of Adult Genetic Leukoencephalopathies on Behalf of the White Matter Rounds Network: State of Practice

代表白质病例讨论网络，针对成人遗传性脑白质病变的影像学检查达成共识：实践现状

American Journal of Neuroradiology
IF3.7
2026-05-010
PRE
Wong, Alexander D.; Airas, Laura; Alvarez, Enrique; Antel, Jack; Araujo, David; Bernard, Genevieve; Boudjani, Hayet; Brais, Bernard; Cocozza, Sirio; Corboy, John R.; Fadda, Giulia; Imitola, Jaime; Lacasse, Marie-Constance; Longbrake, Erin E.; Macaron, Gabrielle; Narayanan, Sridar; Orthmann-Murphy, Jennifer; Ortiz, Johanna; Shor, Natalia; Uggetti, Carla; Venkateswaran, Sunita; Wilson, Nagwa; Miller, Elka; La Piana, Roberta
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]

勘误：“Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome” [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184]

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
IF0
2026-03-110
OAAI
Busra 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
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome

新型VARS1变异定义了一种罕见神经发育综合征的新临床和分子亚型

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
IF0
2026-02-100
OA
Busra 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
The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative Study

POLR3相关脑白质营养不良对未受影响的家庭成员的影响：一项定性研究

Pediatric Neurology
IF2.1
2025-12-160
OAAI
Adam 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
Developing a National Network for Leukodystrophy Research and Care in Canada

在加拿大开发髓鞘形成障碍研究的国家网络及护理体系

NEUROLOGY-GENETICS
IF3.7
2025-12-010
PRE
Chapleau, 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
Critical functional domains in pediatric onset TUBB4A-related leukodystrophy: a clinical and caregiver’s perspective

儿童期发病的TUBB4A相关白质脑病的核心功能域：临床与照护者视角

Pediatric Neurology
IF2.1
2025-10-030
PRE
Francesco 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
Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders

POLR3相关疾病的全面基因型-表型分析

Human Genetics and Genomics Advances
IF3.6
2025-07-180
OAAI
Mackenzie 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
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-03-010
PRE
Gavazzi, 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.
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia
EPILEPSIA
IF6.6
2024-09-300
OAAI
Symonds, 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.
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-08-010
PRE
Adang, 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.

研究方向

暂未获取到该数据
A
Adeline Vanderver
H 指数:59论文数:390被引数:1.4万
N
Nicole I. Wolf
H 指数:60论文数:714被引数:1.1万
M
Marjo S. van der Knaap
H 指数:98论文数:806被引数:3.3万
A
Amy Pizzino
H 指数:21论文数:55被引数:2,704
L
Luan T. Tran
H 指数:15论文数:39被引数:867
B
Bernard Brais
H 指数:52论文数:362被引数:9,870
R
Raphael Schiffmann
H 指数:90论文数:448被引数:2.4万
D
Davide Tonduti
H 指数:33论文数:168被引数:4,259
B
Benoit Coulombe
H 指数:42论文数:256被引数:7,326
E
Enrico Bertini
H 指数:113论文数:1,266被引数:5.5万