Magdalena Koczkowska

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 203 citations · Full text

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 130 citations · Full text

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes et al. · Genetics in Medicine · 2018 · 93 citations · Full text

Detection of <i>BRCA1/2</i> mutations in circulating tumor DNA from patients with ovarian cancer

Magdalena Ratajska, Magdalena Koczkowska, Monika Żuk et al. · Oncotarget · 2017 · 45 citations · Full text

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients

Magdalena Koczkowska, Natalia Krawczyńska, Maciej Stukan et al. · Cancers · 2018 · 40 citations · Full text