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 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Medicine, Molecular Genetics, Neurology +11

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 · 46 citations · Full text

Medicine, Molecular Genetics, Oncology +17

Detection of somatic <i><scp>BRCA</scp>1/2</i> mutations in ovarian cancer – next‐generation sequencing analysis of 100 cases

Magdalena Koczkowska, Monika Żuk, Adam Gorczyński et al. · Cancer Medicine · 2016 · 40 citations · Full text

Medicine, Genetics, Oncology +17