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List of works by Christophe Beroud

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

scientific article
Assessing TP53 status in human tumours to evaluate clinical outcome

scientific article
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

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

scientific article published in June 2009
Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma

scientific article published in May 2002
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015
p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis

article
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

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

scientific article published in March 2004
Diagnostic approach to the congenital muscular dystrophies

scientific article
The UMD-p53 database: new mutations and analysis tools

scientific article
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC

scientific article (publication date: 1999)
APC gene: database of germline and somatic mutations in human tumors and cell lines

article
Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

scientific article
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

scientific article published on 01 February 2007
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

scientific article
p53 gene mutation: software and database

article
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience

scientific article published on 01 January 2006
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

scientific article published in June 2009
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein

scientific article published in July 2002
Software and database for the analysis of mutations in the VHL gene

scientific article published on January 1998
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

scientific article published on 04 February 2016
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

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

scientific article
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders

scientific article
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

scientific article published on 26 August 2013
UMD (Universal Mutation Database): 2005 update

scientific article
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

scientific article
The UMD TP53 database and website: update and revisions

scientific article published on 01 January 2006
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

scientific article
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article
Consensus statement on standard of care for congenital muscular dystrophies

scientific article
Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides

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

scientific article published on 5 December 2011
Analysis of the DYSF mutational spectrum in a large cohort of patients

scientific article published in February 2009
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

scientific article
Cardiovascular manifestations in men and women carrying a FBN1 mutation

scientific article published on 13 August 2010
The new Ghent criteria for Marfan syndrome: what do they change?

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

scientific article published on January 2002
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

scientific article
Meta-analysis of the p53 Mutation Database for Mutant p53 Biological Activity Reveals a Methodologic Bias in Mutation Detection

article
p53 gene mutation: software and database.

scientific article
A mutation in the Gardos channel is associated with hereditary xerocytosis

scientific article
The UMD-LDLR database: additions to the software and 490 new entries to the database.

scientific article
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

scientific article
Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

scientific article published on 15 September 2011
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

scientific article
Aortic event rate in the Marfan population: a cohort study

scientific article published in December 2011
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

scientific article published on 15 September 2011
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

scientific article published on 27 October 2013

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