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Stoppa-Lyonnet Dominique Génétique médicale
Stoppa-Lyonnet Dominique
Génétique médicale
Clcc Institut Curie
Paris, France
380 Activités
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{{person.topmesh1.name}} Tumeurs du sein Prédisposition génétique à une maladie Tumeurs de l'ovaire Ataxie-télangiectasie Carcinomes Ataxie Télangiectasie Carcinome épithélial de l'ovaire Rétinoblastome

Collaborateurs

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Gauthier-Villars Marion
Gauthier-Villars Marion
Clcc Institut Curie, Paris, France
Houdayer Claude
Houdayer Claude
Hôpital Charles Nicolle, Rouen, France
Golmard Lisa
Golmard Lisa
Clcc Institut Curie, Paris, France
Lasset Christine
Lasset Christine
Centre Léon-Bérard, Lyon, France

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MSD
1 collaboration(s)
Dernière en 2020
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Dernières activités

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Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine.
BMC biology   20 février 2024
COVAR: Study of Family COsegregation of Nucleotide VARiants in the Panel of Genes to Validate Their Use in Genetic Counseling
Essai Clinique (Institut Curie)   16 janvier 2024
Adaptive Nanopore Sequencing as a preeminent tool to elucidate structural variants in cancer predisposition genes
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Genotype-phenotype correlations in retinoblastoma
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction: results from an international multicenter-study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Adaptive Nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
Nucleic acids research   24 décembre 2023
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement.
Breast (Edinburgh, Scotland)   10 décembre 2023
Familial uveal melanoma and other tumours in 25 families with monoallelic germline MBD4 variants.
Journal of the National Cancer Institute   07 décembre 2023
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.
Breast (Edinburgh, Scotland)   29 novembre 2023