Concepedia
Statistics
Publications
44
Citations
3.8K
H-Index
33
Active since
2003
Affiliations
Inserm(Current)
Université de Rouen Normandie
Sorbonne Université
Assistance Publique – Hôpitaux de Paris
Hôpital Charles-Nicolle
Valérie Drouin‐Garraud is an author at Inserm specializing in genetics, molecular genetics, and genetic disorders.
Publications per year
2003–2021
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 306 citations · Full text
Life Sciences, Genetics, Molecular Genetics +9
Clinical Outcomes of Pulmonary Arterial Hypertension in Patients Carrying an <i>ACVRL1</i> ( <i>ALK1</i> ) Mutation
Barbara Girerd, David Montani, Florence Coulet et al. · American Journal of Respiratory and Critical Care Medicine · 2010 · 296 citations
Medicine, Cardiology, Genetics +13
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 273 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
Sébastien Albert, Hélène Blons, Laurence Jonard et al. · European Journal of Human Genetics · 2006 · 243 citations
Medicine, Genetics, Molecular Genetics +12
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 174 citations · Full text
Medicine, Neurology, Neuropathology +2
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