Christophe Béroud

发表

P53 Gene Mutation: Software and Database

Thierry Soussi, Christophe Béroud, Frédérique Verdier, 1996, Nucleic Acids Res..

Software and database for the analysis of mutations in the human LDL receptor gene

Christophe Béroud, Mathilde Varret, Jean-Pierre Rabès, 1997, Nucleic Acids Res..

p53 and APC gene mutations: software and databases

Thierry Soussi, Christophe Béroud, C. Béroud, 1997, Nucleic Acids Res..

VarioML framework for comprehensive variation data representation and exchange

Morris A. Swertz, Mauno Vihinen, Anthony J. Brookes, 2012, BMC Bioinformatics.

Correction: Dispelling myths about rare disease registry system development

Christophe Béroud, Adam Hunter, Matthew I. Bellgard, 2014, Source Code for Biology and Medicine.

UMD-MEN1 database: analysis of clinical and genetic data from 1,676 patients by the TENGEN network

Christophe Béroud, Amira Mohamed, Pauline Romanet, 2019 .

Marfan Database (third edition): new mutations and new routines for the software

Hanns-Georg Klein, Christophe Béroud, Gwenaëlle Collod-Béroud, 1998, Nucleic Acids Res..

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

Manfred Stuhrmann, Hartmut Schmidt, Christophe Béroud, 1998, Nucleic Acids Res..

Dispelling myths about rare disease registry system development

Christophe Béroud, Adam Hunter, Matthew I. Bellgard, 2013, Source Code for Biology and Medicine.

P53 Gene Mutation: Software and Database

Thierry Soussi, Christophe Béroud, C. Béroud, 1998, Nucleic Acids Res..

APC gene: database of germline and somatic mutations in human tumors and cell lines

Thierry Soussi, Christophe Béroud, C. Béroud, 1996, Nucleic Acids Res..

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

Etienne Rouleau, Christophe Béroud, Sandrine Caputo, 2011, Nucleic Acids Res..

VarAFT: a variant annotation and filtration system for human next generation sequencing data

David Salgado, Christophe Béroud, Marc Bartoli, 2018, Nucleic Acids Res..

APC gene: database of germline and somatic mutations in human tumors and cell lines

Thierry Soussi, Christophe Béroud, Pierre Laurent-Puig, 1998, Nucleic Acids Res..

Software and database for the analysis of mutations in the human WT1 gene

Christophe Béroud, Claudine Junien, Cécile Jeanpierre, 1998, Nucleic Acids Res..

Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units

Christophe Béroud, Damien Paulet, Mireille Claustres, 2010, BMC Bioinformatics.

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

Qing Wang, Christophe Béroud, Anthony Ferrari, 2013, Database J. Biol. Databases Curation.

Correction to Dispelling myths about rare disease registry system development [Source Code Biol Med, 8, (2013), 21] 10.1186/1751-0473-8-21, 24131574

Adam Hunter, Christophe Béroud, Matthew I. Bellgard, 2014 .

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

Thierry Soussi, Christophe Béroud, Gwenaëlle Collod-Béroud, 1997, Nucleic Acids Res..

Software and database for the analysis of mutations in the VHL gene

Christophe Béroud, Claudine Junien, Dominique Joly, 1998, Nucleic Acids Res..

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

Christophe Béroud, Svetlana Gorokhova, Mathieu Cerino, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

Sue Povey, Mauno Vihinen, Jim Kaput, 2010, Human mutation.

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Christophe Béroud, Arnaud Blanchard, Morgane Miltgen, 2016, Movement disorders : official journal of the Movement Disorder Society.

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Christophe Béroud, Hanns Lochmüller, Petr Brabec, 2015, Human mutation.

Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan

Christophe Béroud, Jean-Pierre Desvignes, C. Béroud, 2017, The Journal of infectious diseases.

Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma.

Kathy Pfeiffer, Christophe Béroud, Nathalie Alazard, 2002, Carcinogenesis.

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Caroline Lacoste, Christophe Béroud, Véronique Picard, 2015, Blood.

UMD‐predictor, a new prediction tool for nucleotide substitution pathogenicity—application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2

Christophe Béroud, Catherine Boileau, Mireille Claustres, 2009, Human mutation.

UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Christophe Béroud, Arnaud Blanchard, Nicolas Lévy, 2016, Human mutation.

Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood.

Bernard Lacour, Christophe Béroud, C. Béroud, 2002, The American journal of pathology.

BRCA Share: A Collection of Clinical BRCA Gene Variants

Christophe Béroud, Dominique Vaur, Izabela Karbassi, 2016, Human mutation.

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

Christophe Béroud, Jamel Chelly, Mireille Claustres, 2009, Human mutation.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

Gabor Matyas, Christophe Béroud, Claudine Junien, 2003, Human mutation.

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma

Christophe Béroud, Nicolas Levy, Françoise Berger, 2017, Haematologica.

Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides

Thierry Soussi, Christophe Béroud, C. Béroud, 2003, Human mutation.

The UMD‐LDLR database: additions to the software and 490 new entries to the database

Christophe Béroud, Mathilde Varret, Jean-Pierre Rabès, 2002, Human mutation.

The UMD-p 53 Database : New Mutations and Analysis Tools

Thierry Soussi, Christophe Béroud, C. Béroud, 2003 .

Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer

Bernard Lacour, Christophe Béroud, Frédérique Capron, 2004, Hepatology.

Leveraging European infrastructures to access 1 million human genomes by 2022

Arcadi Navarro, Søren Brunak, Jaap Heringa, 2019, Nature Reviews Genetics.

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

Christophe Béroud, Jean-Pierre Desvignes, C. Béroud, 2016, Human mutation.

157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands

Christophe Béroud, K. Bushby, C. Béroud, 2008, Neuromuscular Disorders.

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Olivier Danos, Mireille Claustres, 2007, Human mutation.

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Christophe Béroud, Nicolas Lévy, Richard Caswell, 2017, Metabolism: clinical and experimental.

The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Domenica Taruscio, Emma Heslop, Jes Rahbek, 2013, Human mutation.

Assessing TP53 status in human tumours to evaluate clinical outcome

Thierry Soussi, Christophe Béroud, C. Béroud, 2001, Nature Reviews Cancer.

UMD (Universal Mutation Database): 2005 update

Thierry Soussi, Christophe Béroud, Catherine Boileau, 2005, Human mutation.

Bioinformatics identification of splice site signals and prediction of mutation effects

Christophe Béroud, Mireille Claustres, C. Béroud, 2010 .

The UMD‐p53 database: New mutations and analysis tools

Thierry Soussi, Christophe Béroud, C. Béroud, 2003, Human mutation.