Author

Virginie Bros‐Facer

Observed names: Bros, V, Bros-Facer, Bros-Facer, V, Bros-Facer, V., Bros-Facer, Virginie, Bros-Facer,, V, Facer, V Bros, V. Bros-Facer, Virginie Bros, Virginie Bros Facer, Virginie Bros-Facer, Virginie Bros-Facer (252132), Virginie Bros-facer

Observed institutions: European Organisation for Rare Diseases, Inserm, King's College London, GlaxoSmithKline (United Kingdom), Orphanet, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, GlaxoSmithKline Research & Development Limited (United Kingdom), University College London

OpenAlex ID: A5056326337

Recommendations for Improving the Quality of Rare Disease Registries

2018 · Yllka Kodra, Jérôme Weinbach, et al. · International Journal of Environmental Research and Public Health · 189

PDF

Optical Control of Muscle Function by Transplantation of Stem Cell–Derived Motor Neurons in Mice

2014 · J. Barney Bryson, Carolina Barcellos Machado, et al. · Science · 163

Share and protect our health data: an evidence based approach to rare disease patients’ perspectives on data sharing and data protection - quantitative survey and recommendations

2019 · Sandra Courbier, Rebecca Dimond, et al. · Orphanet Journal of Rare Diseases · 142

PDF

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy

2009 · Francesca Achilli, Virginie Bros-Facer, et al. · Disease Models & Mechanisms · 101

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

2021 · Birte Zurek, Kornelia Ellwanger, et al. · European Journal of Human Genetics · 99

PDF

Modification of Superoxide Dismutase 1 (SOD1) Properties by a GFP Tag – Implications for Research into Amyotrophic Lateral Sclerosis (ALS)

2010 · James C. Stevens, Ruth Chia, et al. · PLoS ONE · 78

PDF

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

2021 · Leslie Matalonga, Carles Hernández-Ferrer, et al. · European Journal of Human Genetics · 70

PDF

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

2014 · Peter I. Joyce, Philip Mcgoldrick, et al. · Human Molecular Genetics · 62

PDF

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

2022 · Steven Laurie, Davide Piscia, et al. · Human Mutation · 60

PDF

Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

2018 · Sabina Gainotti, Deborah Mascalzoni, et al. · International Journal of Environmental Research and Public Health · 58

PDF

Treatment with an antibody directed against Nogo-A delays disease progression in the SOD1G93A mouse model of Amyotrophic lateral sclerosis

2014 · V. Bros-Facer, D. Krull, et al. · Human Molecular Genetics · 41

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

2020 · Antonio Atalaia, Rachel Thompson, et al. · Orphanet Journal of Rare Diseases · 36

PDF

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

2023 · Burcu Yaldiz, Erdi Kucuk, et al. · Human Genomics · 30

PDF

The Legs at odd angles (Loa) Mutation in Cytoplasmic Dynein Ameliorates Mitochondrial Function in SOD1G93A Mouse Model for Motor Neuron Disease

2010 · Ali Morsi El-Kadi, Virginie Bros-Facer, et al. · Journal of Biological Chemistry · 24

PDF

Focal distortion of the nuclear envelope by huntingtin aggregates revealed by lamin immunostaining

2008 · J. Paul Chapple, Virginie Bros-Facer, et al. · Neuroscience Letters · 18

PDF

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

2021 · Rebecca Schüle, Dagmar Timmann, et al. · European Journal of Human Genetics · 16

Mutant Glycyl-tRNA Synthetase (Gars) Ameliorates SOD1G93A Motor Neuron Degeneration Phenotype but Has Little Affect on Loa Dynein Heavy Chain Mutant Mice

2009 · Gareth T. Banks, Virginie Bros-Facer, et al. · PLoS ONE · 16

PDF

Next-generation sequencing-based newborn screening initiatives in Europe: an overview

2023 · Virginie Bros-Facer, Stacie Taylor, et al. · Rare Disease and Orphan Drugs Journal · 12

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

2023 · Adam Jackson, Sheng-Jia Lin, et al. · Human Genetics and Genomics Advances · 12

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

2024 · German Demidov, Burcu Yaldiz, et al. · npj Genomic Medicine · 9

An interconnected data infrastructure to support large-scale rare disease research

2024 · Lennart F Johansson, Steve Laurie, et al. · GigaScience · 8

PDF

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

2023 · Anne-Sophie Denommé-Pichon, Leslie Matalonga, et al. · Genetics in Medicine · 6

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

2025 · Maria Francesca Di Feo, Ida Paramonov, et al. · Genetics in Medicine · 4

A novel somatodendritic marker defined by a peptide derived from the ALS2 protein

2004 · Virginie Bros, Stephen J. A. Shemilt, et al. · Neuroreport · 3

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

2021 · Leslie Matalonga, Carles Hernández-Ferrer, et al. · European Journal of Human Genetics · 1

PDF

Works count: 65

Citation count: 1,259

H-index: 16

I10-index: 19