Rafaëlle Bernard

4.6k total citations · 1 hit paper
54 papers, 2.8k citations indexed

About

Rafaëlle Bernard is a scholar working on Molecular Biology, Cellular and Molecular Neuroscience and Genetics. According to data from OpenAlex, Rafaëlle Bernard has authored 54 papers receiving a total of 2.8k indexed citations (citations by other indexed papers that have themselves been cited), including 34 papers in Molecular Biology, 13 papers in Cellular and Molecular Neuroscience and 9 papers in Genetics. Recurrent topics in Rafaëlle Bernard's work include Muscle Physiology and Disorders (18 papers), RNA Research and Splicing (12 papers) and Hereditary Neurological Disorders (9 papers). Rafaëlle Bernard is often cited by papers focused on Muscle Physiology and Disorders (18 papers), RNA Research and Splicing (12 papers) and Hereditary Neurological Disorders (9 papers). Rafaëlle Bernard collaborates with scholars based in France, Netherlands and Spain. Rafaëlle Bernard's co-authors include Nicolas Lévy, Annachiara De Sandre‐Giovannoli, Pierre Cau, Claire Navarro, Irène Boccaccio, Martine Le Merrer, Colin L. Stewart, Stanislas Lyonnet, Jeanne Amiel and Arnold Münnich and has published in prestigious journals such as Science, Neurology and Annals of Neurology.

In The Last Decade

Rafaëlle Bernard

51 papers receiving 2.7k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Lamin A Truncation in Hutchinson-Gilford Progeria

2003 1.1k citations Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. profile →

Peers

Countries citing papers authored by Rafaëlle Bernard

Since Specialization

Citations

This map shows the geographic impact of Rafaëlle Bernard's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Rafaëlle Bernard with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Rafaëlle Bernard more than expected).

Fields of papers citing papers by Rafaëlle Bernard

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Rafaëlle Bernard. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Rafaëlle Bernard. The network helps show where Rafaëlle Bernard may publish in the future.

Co-authorship network of co-authors of Rafaëlle Bernard

This figure shows the co-authorship network connecting the top 25 collaborators of Rafaëlle Bernard. A scholar is included among the top collaborators of Rafaëlle Bernard based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Rafaëlle Bernard. Rafaëlle Bernard is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features 2025 ·European Journal of Neurology ·(unknown), Patrick Vandeputte, (unknown), Christophe Gillet, Christophe Verny, Rafaëlle Bernard, Giorgio Tasca, Marco Spinazzi	0
2	French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD) 2024 ·Journal of Neurology ·Shahram Attarian, Sadia Beloribi‐Djefaflia, Rafaëlle Bernard, Karine Nguyen, C. Cancès, (unknown), Andoni Echaniz‐Laguna, Caroline Espil, Teresinha Evangelista, Léonard Feasson, Frédérique Audic, (unknown), (unknown), Tanya Stojkovic, Guilhem Solé, Emmanuelle Salort‐Campana, Sabrina Sacconi	6
3	Complex 4q35 and 10q26 Rearrangements 2023 ·Neurology Genetics ·(unknown), (unknown), (unknown), (unknown), Pierre Perrin, (unknown), (unknown), Karine Nguyen, Rafaëlle Bernard, Frédérique Magdinier	4
4	The French National Registry of patients with Facioscapulohumeral muscular dystrophy 2018 ·Orphanet Journal of Rare Diseases ·(unknown), Gaëlle Blandin, (unknown), (unknown), (unknown), (unknown), Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud	12
5	Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report 2016 ·BMC Medical Genetics ·(unknown), Francesca Puppo, Stéphane Roche, Camille Dion, (unknown), Virginie Mariot, (unknown), (unknown), (unknown), (unknown), Rafaëlle Bernard, Julie Dumonceaux, Shahram Attarian, Nicolas Lévy, Karine Nguyen, Frédérique Magdinier, Marc Bartoli	9
6	Rhinal hypometabolism on FDG PET in healthy APO-E4 carriers: impact on memory function and metabolic networks 2015 ·European Journal of Nuclear Medicine and Molecular Imaging ·Mira Didic, Olivier Félician, (unknown), Rafaëlle Bernard, Christophe Pécheux, O. Mundler, Mathieu Ceccaldi, Éric Guedj	12
7	Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy 2015 ·Journal of Neuromuscular Diseases ·(unknown), Svetlana Gorokhova, Anthony Béhin, Jon Andoni Urtizberea, (unknown), (unknown), Rafaëlle Bernard, Nicolas Lévy, Marc Bartoli, Martin Krahn	8
8	Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy 2013 ·PLoS Genetics ·(unknown), (unknown), Marc Bartoli, Francesca Puppo, Julie Dumonceaux, Angela Zimmermann, (unknown), (unknown), Stéphane Roche, Linda N. Geng, Frédérique Magdinier, Shahram Attarian, Rafaëlle Bernard, Flavio Maina, Nicolas Lévy, Françoise Helmbacher	68
9	Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy 2011 ·Annals of Neurology ·Karine Nguyen, Pierre Walrafen, Rafaëlle Bernard, Shahram Attarian, (unknown), (unknown), (unknown), (unknown), Jean Pouget, Anne Vannier, Aaron Bensimon, Nicolas Lévy	36
10	New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination? 2009 ·European Journal of Human Genetics ·Mouna Barat‐Houari, Karine Nguyen, Rafaëlle Bernard, (unknown), (unknown), Corinne Bareil, Philippe Khau Van Kien, (unknown), Sylvie Tuffery‐Giraud, Francis Vasseur, Shahram Attarian, Jean Pouget, Anne Girardet, Nicolas Lévy, M. Claustres	11
11	U1 snRNA mis-binding: a new cause of CMT1B 2009 ·Neurogenetics ·(unknown), Philippe Latour, Véronique Bonnet, Shahram Attarian, Pierre Labauge, Nathalie Bonello‐Palot, Rafaëlle Bernard, Gilles Millat, Robert Rousson, Dominique Bozon	16
12	Phenotypic Study in 40 Patients With Dysferlin Gene Mutations 2007 ·Archives of Neurology ·Karine Nguyen, Guillaume Bassez, Martin Krahn, Rafaëlle Bernard, Pascal Laforêt, Véronique Labelle, Jon Andoni Urtizberea, Dominique Figarella‐Branger, Norma B. Romero, Shahram Attarian, France Leturcq, Jean Pouget, Nicolas Lévy, B. Eymard	184
13	CAPN3 mutations in patients with idiopathic eosinophilic myositis 2006 ·Annals of Neurology ·Martin Krahn, Adolfo López de Munaín, Nathalie Streichenberger, Rafaëlle Bernard, Christophe Pécheux, Hervé Testard, José Luis Peña Segura, (unknown), Ana Cabello, Norma B. Romero, Juan José Poza, (unknown), Xavier Ferrer, María Goicoechea, F. García-Bragado, France Leturcq, J. Andoni Urtizberea, Nicolas Lévy	75
14	Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies 2006 ·NeuroMolecular Medicine ·Rafaëlle Bernard, Annachiara De Sandre‐Giovannoli, Valérie Delague, Nicolas Lévy	35
15	Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies 2005 ·Human Mutation ·Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella‐Branger, Jean Pouget, (unknown), Christophe Béroud, Andoni Urtizberea, B. Eymard, France Leturcq, Nicolas Lévy	92
16	Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy 2004 ·Human Molecular Genetics ·Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, S. Hadj‐Rabia, Caroline Gaudy‐Marqueste, (unknown), P. Vabres, Laurence Bonhomme‐Faivre, Alain Verloès, Ton van Essen, Elisabeth Flori, Raoul C. M. Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy	266
17	Functional exploration of A type lamins and associated proteins in patients affected with Hutchinson-Gilford progeria syndrome caused by G608G mutation in LMNA 2003 ·The American Journal of Human Genetics ·Nicolas Lévy, Claire Navarro, Irène Boccaccio, Anthony Boyer, (unknown), Koenraad Devriendt, (unknown), Joanna M. Bridger, N. Philip, Rafaëlle Bernard, France Leturcq, Martine LeMerrer, Pierre Cau, (unknown)	1
18	Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease 2003 ·Human Mutation ·Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian Martins, Ivailo Tournev, Albena Jordanova, (unknown), Boryana Ishpekova, Ivo Kremensky, Garth A. Nicholson, Beate Schlotter, Hanns Lochmüller, Thomas Voit, J. Colomer, P K Thomas, Nicolas Lévy, Luba Kalaydjieva	41
19	Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders 2002 ·European Journal of Human Genetics ·Rafaëlle Bernard, Amandine Boyer, (unknown), Perrine Malzac, Philippe Latour, Antoon Vandenberghe, Nicole Philip, Nicolas Lévy	7
20	Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A 2000 ·European Journal of Human Genetics ·Rafaëlle Bernard, Véronique Labelle, (unknown), Sandrine Tardieu, Jean‐Philippe Azulay, Perrine Malzac, Jean-François Mattéi, Éric Leguern, Nicole Philip, Nicolas Lévy	3

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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