Artikler med mandater om offentlig tilgang - Geoffroy VéroniqueLes mer
Tilgjengelige et eller annet sted: 17
Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
S Scheidecker, C Etard, NW Pierce, V Geoffroy, E Schaefer, J Muller, ...
Journal of medical genetics 51 (2), 132-136, 2014
Mandater: US National Institutes of Health, National Institute of Health and Medical …
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects
A Bloch-Zupan, X Jamet, C Etard, V Laugel, J Muller, V Geoffroy, ...
The American Journal of Human Genetics 89 (6), 773-781, 2011
Mandater: National Institute of Health and Medical Research, France
VaRank: a simple and powerful tool for ranking genetic variants
V Geoffroy, C Pizot, C Redin, A Piton, N Vasli, C Stoetzel, A Blavier, ...
PeerJ 3, e796, 2015
Mandater: National Institute of Health and Medical Research, France
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
S Scheidecker, C Etard, L Haren, C Stoetzel, S Hull, G Arno, V Plagnol, ...
The American Journal of Human Genetics 96 (4), 666-674, 2015
Mandater: British Heart Foundation, National Institute for Health Research, UK
Rare de novo missense variants in RNA helicase DDX6 cause intellectual disability and dysmorphic features and lead to P-body defects and RNA dysregulation
C Balak, M Benard, E Schaefer, S Iqbal, K Ramsey, M Ernoult-Lange, ...
The American Journal of Human Genetics 105 (3), 509-525, 2019
Mandater: Agence Nationale de la Recherche
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
A Kröll‐Hermi, F Ebstein, C Stoetzel, V Geoffroy, E Schaefer, ...
EMBO molecular medicine 12 (7), e11861, 2020
Mandater: German Research Foundation, National Institute of Health and Medical …
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
C Stoetzel, S Bär, JO De Craene, S Scheidecker, C Etard, J Chicher, ...
Nature communications 7 (1), 13586, 2016
Mandater: Howard Hughes Medical Institute, German Research Foundation, National …
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
V Geoffroy, T Guignard, A Kress, JB Gaillard, T Solli-Nowlan, A Schalk, ...
Nucleic acids research 49 (W1), W21-W28, 2021
Mandater: National Institute of Health and Medical Research, France
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
M Huckert, C Stoetzel, S Morkmued, V Laugel-Haushalter, V Geoffroy, ...
Human molecular genetics 24 (11), 3038-3049, 2015
Mandater: US National Institutes of Health, Research Foundation (Flanders)
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome
E Schaefer, C Delvallée, L Mary, C Stoetzel, V Geoffroy, ...
Frontiers in Genetics 10, 21, 2019
Mandater: Agence Nationale de la Recherche
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome
C Delvallée, S Nicaise, M Antin, AS Leuvrey, E Nourisson, CC Leitch, ...
Clinical genetics 99 (2), 318-324, 2021
Mandater: US National Institutes of Health, Agence Nationale de la Recherche
Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
V Geoffroy, C Stoetzel, S Scheidecker, E Schaefer, I Perrault, S Bär, ...
Human Mutation 39 (7), 983-992, 2018
Mandater: German Research Foundation, Federal Ministry of Education and Research, Germany
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy
S Scheidecker, S Bär, C Stoetzel, V Geoffroy, B Lannes, B Rinaldi, ...
Human mutation 40 (10), 1826-1840, 2019
Mandater: National Institute of Health and Medical Research, France, Agence Nationale …
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
V Laugel-Haushalter, S Bär, E Schaefer, C Stoetzel, V Geoffroy, ...
Frontiers in Genetics 10, 504, 2019
Mandater: National Institute of Health and Medical Research, France, Agence Nationale …
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
A Estrada‐Cuzcano, C Etard, C Delvallée, C Stoetzel, E Schaefer, ...
Human Mutation 41 (1), 240-254, 2020
Mandater: US National Institutes of Health
PFMG2025–integrating genomic medicine into the national healthcare system in France
C Abadie, A Abderrahmane, O Abdous, C Abel, O Ackermann, ...
The Lancet Regional Health–Europe, 2025
Mandater: Agence Nationale de la Recherche
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
M Ernoult-Lange, F Mattioli, L Llaci, V Geoffroy, M Courel, M Naymik, ...
Mandater: Agence Nationale de la Recherche
Informasjon om publisering og finansiering fastsettes automatisk av et datamaskinprogram