Concepedia
Statistics
Publications
20
Citations
1.3K
H-Index
16
Active since
1999
Affiliations
Sorbonne Université(Current)
Inserm
Pitié-Salpêtrière Hospital
Assistance Publique – Hôpitaux de Paris
Institut du Cerveau
Claire-Sophie Davoine is an author at Sorbonne Université specializing in life sciences, genetics, and medical genetics.
Publications per year
1999–2024
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
Sophie Nicole, Claire-Sophie Davoine, Haluk Topaloğlu et al. · Nature Genetics · 2000 · 299 citations
Medicine, Cell Biology, Pathology +11
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, Monia Hammer, Giovanni Stévanin et al. · JAMA Neurology · 2018 · 123 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
Marie Coutelier, Giulia Coarelli, Marie‐Lorraine Monin et al. · Brain · 2017 · 113 citations · Full text
Life Sciences, Genetics, Neurology +14
Spectrum of<i>HSPG2</i>(Perlecan) mutations in patients with Schwartz-Jampel syndrome
Morgane Stum, Claire-Sophie Davoine, Savine Vicart et al. · Human Mutation · 2006 · 105 citations
Life Sciences, Genetics, Molecular Genetics +13
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 103 citations · Full text
Life Sciences, Bioinformatics, Biomedical Informatics +15
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