Concepedia

C. Bouchet-Séraphin

CB

9

Publications

478

Citations

9

H-Index

2009

Active since

Affiliations

Assistance Publique – Hôpitaux de Paris(Current)

Hôpital Bichat-Claude-Bernard

Inserm

Université Claude Bernard Lyon 1

Sorbonne Université

C. Bouchet-Séraphin is an author at Assistance Publique – Hôpitaux de Paris specializing in genetics, medicine, and molecular genetics.

ORCID

Top concepts

Publications per year

2009–2019

9

Publications

9

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · The American Journal of Human Genetics · 2012 · 138 citations · Full text

, , +6

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Isabelle Gerin, Benoît Ury, Isabelle Breloy et al. · Nature Communications · 2016 · 135 citations · Full text

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

Sandrine Vuillaumier‐Barrot, Susana Quijano-Roy, C. Bouchet-Séraphin et al. · Neuromuscular Disorders · 2009 · 40 citations

, , +10

Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein

C. Bouchet-Séraphin, Sandrine Vuillaumier‐Barrot, Nathalie Séta · Journal of Neuromuscular Diseases · 2015 · 38 citations · Full text

, , +29

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Martin Krahn, Valérie Biancalana, Mathieu Cérino et al. · European Journal of Human Genetics · 2018 · 38 citations · Full text

, , +13

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