Geneviève Bernard

Also affiliated with McGill University Health Centre, Centre For Human Genetics, McGill Genome Centre, Pediatrics and Genetics, McGill University

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 12 papers. Top paper: “Distinguishing severe phenotypes associated with pathogenic variants in POLR3A”.

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62553

N/A

0DataRank · unranked

12 citations

Laurence Gauquelin, Jennifer Wambach, Geneviève Bernard, Stefanie Perrier

Therapy Trial Design in Vanishing White Matter

Neurology Genetics(2022)10.1212/nxg.0000000000000657

N/A

0DataRank · unranked

32 citations

Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh‐Mann, Enrico Bertini +10 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

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0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders

Frontiers in Neurology(2022)10.3389/fneur.2022.928493

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0DataRank · unranked

8 citations

Paul S. Giacomini, Rami Massie, Sunita Venkateswaran, Anne‐Marie Trudelle, Giulia Fadda +20 more

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

Metabolites(2022)10.3390/metabo12030262

N/A

0DataRank · unranked

5 citations

Sandy Elbitar, Anne Philippi, Petra El Khoury, Yara Azar, Miangaly Andrianirina +26 more

Gross Motor Function in Pediatric Onset TUBB4A -Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A

Journal of Child Neurology(2023)10.1177/08830738231188159

N/A

0DataRank · unranked

10 citations

Virali Patel, Brittany A. Charsar, Allan M. Glanzman, Jacqueline Erler, Anjana Sevagamoorthy +17 more

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.08.03.551473

N/A

0DataRank · unranked

2 citations

Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman +28 more

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

European Journal of Paediatric Neurology(2024)10.1016/j.ejpn.2024.03.003

N/A

0DataRank · unranked

29 citations

Daphne H. Schoenmakers, Laura Adang, Stefanie Beck‐Woedl, Caroline Bergner, Geneviève Bernard +23 more

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108521

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0DataRank · unranked

8 citations

Samuel Groeschel, Chloe Grzyb, Russell D’Aiello, Francesco Gavazzi, Omar Sherbini +43 more

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109048

N/A

0DataRank · unranked

9 citations

Brittany A. Charsar, Eline M. Hamilton, Jacqueline Erler, Virali Patel, Sarah Woidill +38 more

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

Nature Communications(2025)10.1038/s41467-025-56378-9

N/A

0DataRank · unranked

7 citations

Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman +28 more

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective

Pediatric Neurology(2025)10.1016/j.pediatrneurol.2025.09.019

N/A

0DataRank · unranked

1 citations

Virali Patel, Jacqueline Erler, Brittany A. Charsar, Ylenia Vaia, Anjana Sevagamoorthy +12 more