Concepedia

Bertrand Isidor

BI

Statistics

Publications

6

Citations

183

H-Index

6

Active since

2010

Affiliations

Inserm(Current)

Génétique Médicale & Génomique Fonctionelle

Centre Hospitalier Universitaire de Nantes

Institut du Thorax

Centre National de la Recherche Scientifique

Bertrand Isidor is an author at Inserm specializing in molecular genetics, life sciences, and genetics.

Publications per year

2010–2023

6

Publications

6

Chromosomal instability by mutations in the novel minor spliceosome component CENATAC

Bas de Wolf, Ali Oghabian, Maureen V. Akinyi et al. · The EMBO Journal · 2021 · 53 citations · Full text

, , +17

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

Mathilde Nizon, Vincent Laugel, Kevin M. Flanigan et al. · Genetics in Medicine · 2019 · 41 citations · Full text

, , +16

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

Piranit N. Kantaputra, Eva Klopocki, Bianca P. Hennig et al. · European Journal of Human Genetics · 2010 · 34 citations · Full text

, , +15

A wave of deep intronic mutations in X-linked Alport syndrome

Marie Boisson, Christelle Arrondel, Nicolas Cagnard et al. · Kidney International · 2023 · 28 citations · Full text

, , +17

Tibial developmental field defect in valproic acid embryopathy: Report on three cases

J.L. Alessandri, Bertrand Isidor, A. David et al. · American Journal of Medical Genetics Part A · 2010 · 17 citations

, , +16

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