Concepedia

Chantal Stoepker

CS

8

Publications

817

Citations

8

H-Index

2011

Active since

Affiliations

Amsterdam UMC Location Vrije Universiteit Amsterdam(Current)

University of Würzburg

Leiden University Medical Center

Vrije Universiteit Amsterdam

Chantal Stoepker is an author at Amsterdam UMC Location Vrije Universiteit Amsterdam specializing in medicine, genetics, and molecular biology.

Top concepts

GeneticsMedicineMolecular BiologyGenome InstabilityMolecular GeneticsEngineeringCell BiologySystems BiologyNatural SciencesFunctional Genomics

Publications per year

2011–2020

8

Publications

8

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

Massimo Bogliolo, Beatrice Schuster, Chantal Stoepker et al. · The American Journal of Human Genetics · 2013 · 303 citations · Full text

Genome Instability, Genetic Disorder, Genetics +6

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

Chantal Stoepker, Karolina Hain, Beatrice Schuster et al. · Nature Genetics · 2011 · 295 citations

Genetic Disorder, Natural Sciences, Genetics +9

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

Rick A.C.M. Boonen, Amélie Rodrigue, Chantal Stoepker et al. · Nature Communications · 2019 · 65 citations · Full text

Genome Instability, Systems Biology, Genetic Variants +15

Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome

Angela Helfricht, Peter Thijssen, Magdalena B. Rother et al. · The Journal of Experimental Medicine · 2020 · 43 citations · Full text

Genetics, Class-switch Recombination, Immunology +19

DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity

Chantal Stoepker, Atiq Faramarz, Martin A. Rooimans et al. · DNA repair · 2014 · 35 citations

Nucleic Acid Chemistry, Natural Sciences, Dna Helicases Fancm +5

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