Stéphane Bezieau - Concepedia

Author

Stéphane Bezieau

Also Known As

Adam R. Boyko, Amos, Christopher I., Bezieau Stephane, Bezieau, S., Bezieau, Stéphane, Bézieau Stéphane, Bézieau, Stéphane, Capucine Delnatte, Díez-Obrero, Virginia, Elke Krüger

400

Publications

13.3K

Citations

H-Index

163

Concepts

All Affiliations

Inserm Centre Hospitalier Universitaire de Nantes Nantes Université Génétique Médicale & Génomique Fonctionelle Centre National de la Recherche Scientifique

About

Stéphane Bezieau is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	40	77	6.3K
2	Natural Sciences	3	3	121
3	Engineering	2	2	39
4	Health Sciences	2	2	199
5	Education	1	1	17

Stéphane Bezieau

140

Publications

9.7K

Citations

H-Index

Page 1

	Year	Citations
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24 Brent W. Zanke, Celia M.T. Greenwood, Jagadish Rangrej, Nature Genetics Genome-wide Association StudyGenome-wide AssociationGeneticsColorectal CancerPathology	2007	727
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death Connie R. Bezzina, Julien Barc, Yuka Mizusawa, Nature Genetics CardiomyopathyGenetic DisorderGeneticsGenetic EpidemiologyMolecular Genetics	2013	540
Identification of SLC39A4, a gene involved in acrodermatitis enteropathica Sébastien Küry, Brigitte Dréno, Stéphane Bezieau, Nature Genetics GeneticsPathogenesisAcrodermatitis EnteropathicaMolecular GeneticsGene Characterization	2002	537
Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura Marie Moatti-Cohen, Céline Garrec, Martine Wolf, Blood	2012	256
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan, The American Journal of Human Genetics Neurodegenerative DiseasesMendelian DisorderAutosomal-recessive Intellectual DisabilityGenetic DisorderGenetics	2015	224
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk Minta Thomas, Lori C. Sakoda, Michael Hoffmeister, The American Journal of Human Genetics Cancer RiskMedicineGeneticsPolygenic RiskGenetic Epidemiology	2020	217
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Neuron Developmental BiologyBrain DevelopmentDevelopmental GeneticsGeneticsRna Biology	2020	205
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nature Genetics Face DetectionFacial Recognition SystemMedicineBiometricsFacial Phenotype Descriptors	2022	195
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis Bertrand Isidor, Pierre Lindenbaum, Olivier Pichon, Nature Genetics Bone DiseaseLast ExonRare Skeletal DisorderMendelian DisorderBone Morphogenic Protein	2011	193
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification	2017	193

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