Valérie Faugère - Concepedia

Author

Valérie Faugère

Institut de Génétique Moléculaire de Montpellier

Also Known As

V Faugère, V. Faugère, Valrie Faugre, Valérie Faugère

Publications

814

Citations

H-Index

Concepts

All Affiliations

Institut de Génétique Moléculaire de Montpellier Université de Montpellier Inserm Centre Hospitalier Universitaire de Montpellier Institut Universitaire de Recherche Clinique

About

Valérie Faugère is an author at Institut de Génétique Moléculaire de Montpellier specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	255
2	Engineering	1	1	43
3	Public Health	1	1	54
4	Biology	1	1	71
5	Endocrinology	1	1	29

Valérie Faugère

Publications

783

Citations

H-Index

Page 1

	Year	Citations
Molecular epidemiology of DFNB1 deafness in France Anne‐Françoise Roux, Nathalie Pallarès-Ruiz, Anne Vielle, BMC Medical Genetics	2004	124
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients David Baux, Christel Vaché, Christophe Blanchet, Scientific Reports	2017	86
Assessment of the latest NGS enrichment capture methods in clinical context Gema García‐García, David Baux, Valérie Faugère, Scientific Reports	2016	85
Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots David Baux, Catherine Blanchet, Christian Hamel, Human Mutation GeneticsExtensive Mutational SpectrumMolecular GeneticsDisease Gene IdentificationGenomics	2014	71
Experience of targeted Usher exome sequencing as a clinical test Thomas Besnard, Gema García‐García, David Baux, Molecular Genetics & Genomic Medicine GeneticsPathologyDisease Gene IdentificationGenomicsHigh Throughput Sequencing	2013	54
Four-Year Follow-up of Diagnostic Service in USH1 Patients Anne‐Françoise Roux, Valérie Faugère, Christel Vaché, Investigative Ophthalmology & Visual Science	2011	50
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Sandie Le Guédard, Valérie Faugère, Sue Malcolm, PubMed	2007	43
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes David Baux, Valérie Faugère, Lise Larrieu, Human Mutation EngineeringGeneticsPathologyDisease Gene IdentificationGenomics	2008	43
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes Sandie Le Guédard-Méreuze, Christel Vaché, David Baux, Human Mutation	2010	39
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome Christel Vaché, Thomas Besnard, Catherine Blanchet, Human Mutation	2010	32

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