Véronique Geoffroy

发表

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Véronique Geoffroy, Claire Redin, Corinne Stoetzel, 2012, Journal of Medical Genetics.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

K. Kawakami, D. Lipsker, E. Krüger, 2020, EMBO molecular medicine.

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

M. Mirande, S. Kremer, H. Dollfus, 2019, Human mutation.

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

K. Chennen, O. Poch, H. Dollfus, 2020, Human mutation.

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

M. Holder-Espinasse, H. Dollfus, C. Stoetzel, 2019, Front. Genet..

Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

H. Blanché, S. Saunier, A. Boland, 2018, Human mutation.

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

A. Toutain, M. Prasad, D. Droz, 2015, Journal of Medical Genetics.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

J. Mandel, B. Gilbert-Dussardier, J. Thevenon, 2017, European Journal of Human Genetics.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

K. Chennen, H. Dollfus, Johana Chicher, 2016, Nature Communications.

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

A. Bloch-Zupan, O. Poch, H. Dollfus, 2011, American journal of human genetics.

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome

J. Mandel, D. Lacombe, C. Redin, 2016, Journal of Human Genetics.

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

A. Boland, J. Deleuze, K. Chennen, 2018, Front. Physiol..

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

G. Mortier, P. Dollé, D. Rifkin, 2015, Human molecular genetics.

brachyolmia with amelogenesis imperfecta

G. Mortier, P. Dollé, D. Rifkin, 2015 .

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

R. Pfundt, S. Szelinger, V. Narayanan, 2019, American journal of human genetics.

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

R. Redon, E. Génin, K. Devriendt, 2020, Clinical genetics.

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

M. Manière, A. Bloch-Zupan, H. Dollfus, 2019, Front. Genet..

Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype

D. Lipsker, X. Jeunemaître, M. Manière, 2021, Clinical genetics.

AnnotSV: an integrated tool for structural variations annotation

Véronique Geoffroy, Amélie Piton, Corinne Stoetzel, 2018, Bioinform..

Distributed under Creative Commons Cc-by 4.0 Varank: a Simple and Powerful Tool for Ranking Genetic Variants

Véronique Geoffroy, Cécile Pizot, Claire Redin, 2022 .

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

H. Dollfus, Tor Solli-Nowlan, T. Guignard, 2021, Nucleic Acids Res..

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Olivier Poch, Véronique Geoffroy, Corinne Stoetzel, 2013, Journal of Medical Genetics.

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

K. Kawakami, D. Lipsker, E. Krüger, 2019, bioRxiv.

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

M. Manière, A. Bloch-Zupan, H. Dollfus, 2016, Front. Physiol..

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Véronique Geoffroy, Corinne Stoetzel, Uwe Strähle, 2015, American journal of human genetics.

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

R. Redon, A. Boland, J. Deleuze, 2023, International journal of molecular sciences.

The AnnotSV webserver in 2023: updated visualization and ranking

Antony Le Béchec, T. Guignard, Arnaud Kress, 2023, Nucleic Acids Res..