C. Bouchet-Séraphin

Author

C. Bouchet-Séraphin

Assistance Publique – Hôpitaux de Paris ORCID

Also Known As

C. Bouchet-Seraphin, C. Bouchet-Séraphin, Celine Bouchet-Seraphin, Celine Bouchet-Séraphin, Céline Bouchet-Seraphin, Céline Bouchet-Séraphin, Julien Faure

Publications

491

Citations

H-Index

Concepts

All Affiliations

Assistance Publique – Hôpitaux de Paris Hôpital Bichat-Claude-Bernard Inserm Université Claude Bernard Lyon 1 Sorbonne Université

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	268
2	Natural Sciences	1	1	38
3	Biochemistry	1	1	38
4	Biomolecular Engineering	1	1	38
5	Cell Biology	1	1	38

C. Bouchet-Séraphin

Publications

478

Citations

H-Index

Page 1

	Year	Citations
Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, The American Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsPathology	2012	138
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan Isabelle Gerin, Benoît Ury, Isabelle Breloy, Nature Communications	2016	135
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype Sandrine Vuillaumier‐Barrot, Susana Quijano-Roy, C. Bouchet-Séraphin, Neuromuscular Disorders Mendelian DisorderFukutin GeneGenetic DisorderGeneticsGenetic Epidemiology	2009	40
Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein C. Bouchet-Séraphin, Sandrine Vuillaumier‐Barrot, Nathalie Séta Journal of Neuromuscular Diseases Abnormal GlycosylationGeneticsGlycobiologyMolecular BiologyMolecular Genetics	2015	38
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing Martin Krahn, Valérie Biancalana, Mathieu Cérino, European Journal of Human Genetics Mendelian DisorderMedicineGeneticsNext-generation SequencingGenetic Epidemiology	2018	38
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) Sofie T. Oestergaard, Tanya Stojkovic, Julia R. Dahlqvist, Neurology Genetics	2016	35
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i> S. Østergaard, Katherine Johnson, Tanya Stojkovic, Journal of Neurology Neurosurgery & Psychiatry	2017	29
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, Neuromuscular Disorders Developmental BiologyMendelian DisorderGenetic DisorderGeneticsIntragenic Rearrangements	2011	14
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene Juliette Svahn, Pascal Laforêt, Christophe Vial, Neuromuscular Disorders	2019	11

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