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Christophe Béroud

Christophe Béroud

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Genetics
France
2024

D-Index & Metrics

Genetics

D-Index
71
Citations
18496
World Ranking
2195
National Ranking
98

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award

Overview

Christophe Béroud is affiliated with Aix-Marseille University in France. Their research spans various fields within biochemistry, genetics, and molecular biology, with a particular focus on medicine-related topics.

The scientist's work concentrates on several main fields of study, including:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these fields, their subfields of study are:

  • Molecular Biology
  • Genetics
  • Cancer Research
  • Immunology
  • Cardiology and Cardiovascular Medicine

The principal research topics covered by Christophe Béroud include:

  • Muscle Physiology and Disorders
  • Genomics and Rare Diseases
  • Cancer Genomics and Diagnostics
  • Muscle metabolism and nutrition
  • Adipose Tissue and Metabolism
  • Cardiomyopathy and Myosin Studies
  • Genetic Neurodegenerative Diseases

They have contributed to multiple recent papers, among which are:

  • "The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases" (2022), Human Mutation
  • "Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation" (2020), eLife
  • "Highlighting the Dystonic Phenotype Related to GNAO1" (2022), Movement Disorders
  • "Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome" (2020), Journal of the American College of Cardiology
  • "X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation" (2020), Skeletal Muscle

The scientist frequently collaborates with a number of co-authors, including:

  • David Salgado
  • C Guien
  • Jean-Pierre Desvignes
  • France Leturcq
  • Nadège Calmels

Christophe Béroud has published extensively in various venues. The most frequent include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Human Mutation
  • Orphanet Journal of Rare Diseases
  • Research Square (Research Square)
  • Movement Disorders

Best Publications

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

    François Olivier Desmet;Dalil Hamroun;Marine Lalande;Gwenaëlle Collod-Bëroud

  • Assessing TP53 status in human tumours to evaluate clinical outcome.

    Thierry Soussi;Christophe Béroud

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

    Catherine L. Bladen;David Salgado;Soledad Monges;Maria E. Foncuberta

  • 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

    L. Faivre;G. Collod-Beroud;G. Collod-Beroud;B.L. Loeys;A. Child

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

    Hélène Simonnet;Nathalie Alazard;Kathy Pfeiffer;Catherine Gallou

  • APC Gene: Database of Germline and Somatic Mutations in Human Tumors and Cell Lines

    Christophe Béroud;Thierry Soussi

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

    Gwenaëlle Collod-Béroud;Saga Le Bourdelles;Lesley Ades;Lesley Ades;Leena Ala-Kokko;Leena Ala-Kokko

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

    Sylvie Tuffery-Giraud;Sylvie Tuffery-Giraud;Christophe Béroud;Christophe Béroud;Rabah Ben Yaou;Rabah Ben Yaou

  • p53 website and analysis of p53 gene mutations in human cancer: forging a link between epidemiology and carcinogenesis.

    Thierry Soussi;Karim Dehouche;Christophe Béroud

  • Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

    David Attias;Chantal Stheneur;Carine Roy;Gwenaëlle Collod-Béroud

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

    Giovanna Vona;Laurence Estepa;Christophe Béroud;Diane Damotte

  • p53 gene mutation: software and database.

    Christophe Béroud;Thierry Soussi

  • UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

    Christophe Béroud;Gwenaëlle Collod-Béroud;Catherine Boileau;Thierry Soussi

  • 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;Sylvie Tuffery-Giraud;Masafumi Matsuo;Dalil Hamroun

  • Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

    Ching C.H. Wang;Carsten C.G. Bönnemann;Anne A. Rutkowski;Thomas T. Sejersen

  • Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

    Pierre-Antoine Juge;Raphaël Borie;Caroline Kannengiesser;Steven Gazal;Steven Gazal

  • The UMD-p53 database: new mutations and analysis tools.

    Christophe Béroud;Thierry Soussi

  • Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

    Virginie Wautot;Cécile Vercherat;James Lespinasse;Béatrice Chambe

  • 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.

    Laurence Faivre;Alice Masurel-Paulet;Gwenaëlle Collod-Béroud;Bert L Callewaert

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

    C. Gallou;D. Joly;A. Méjean;F. Staroz

Frequent Co-Authors

Catherine Boileau
Catherine Boileau Université Paris Cité
Nicolas Lévy
Nicolas Lévy Aix-Marseille University
Thierry Soussi
Thierry Soussi Université Paris Cité
Claudine Junien
Claudine Junien INRAE : Institut national de recherche pour l'agriculture, l'alimentation et l'environnement
Guillaume Jondeau
Guillaume Jondeau Université Paris Cité
Laurence Faivre
Laurence Faivre University of Burgundy
Peter N. Robinson
Peter N. Robinson The Jackson Laboratory
Bart Loeys
Bart Loeys University of Antwerp

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