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Magdalena Koczkowska

Observed names: Koczkowska, Magdalena, MAGDALENA KOCZKOWSKA, Madgalena Koczkowska
ORCID: 0000-0001-9451-8027
Observed ORCID: 0000-0001-9451-8027
OpenAlex ID: A5046314712
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
2017 · Magdalena Koczkowska, Yunjia Chen, et al. · The American Journal of Human Genetics · 216
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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
2019 · Magdalena Koczkowska, Tom Callens, et al. · Human Mutation · 134
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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
2018 · Magdalena Koczkowska, Tom Callens, et al. · Genetics in Medicine · 93
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Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer
2017 · Magdalena Ratajska, Magdalena Koczkowska, et al. · Oncotarget · 49
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Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients
2018 · Magdalena Koczkowska, Natalia Krawczynska, et al. · Cancers · 39
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Detection of somatic BRCA 1/2 mutations in ovarian cancer – next‐generation sequencing analysis of 100 cases
2016 · Magdalena Koczkowska, Monika Zuk, et al. · Cancer Medicine · 39
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Adipose-derived mesenchymal stromal cells in clinical trials: Insights from single-cell studies
2024 · Anna Kostecka, Natalia Kalamon, et al. · Life Sciences · 38
Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example
2015 · Katarzyna Klonowska, Magdalena Ratajska, et al. · Scientific Reports · 37
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High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing
2022 · Anna Kostecka, Tomasz Nowikiewicz, et al. · npj Breast Cancer · 27
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Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
2016 · Magdalena Koczkowska, Jolanta Wierzba, et al. · Journal of Applied Genetics · 25
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Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms
2015 · MAGDALENA RATAJSKA, MAGDALENA MATUSIAK, et al. · Oncology Reports · 23
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Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing
2014 · Magdalena Ratajska, Magdalena Krygier, et al. · Journal of Applied Genetics · 23
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Bayesian multilevel model of micro RNA levels in ovarian-cancer and healthy subjects
2019 · Paweł Wiczling, Emilia Daghir-Wojtkowiak, et al. · PLoS ONE · 19
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Malignant Gliomas as Second Neoplasms in Pediatric Cancer Survivors: Neuropathological Study
2018 · Ewa Izycka-Swieszewska, Ewa Bien, et al. · BioMed Research International · 17
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Primary leiomyosarcoma of the mesentery in two sisters: clinical and molecular characteristics
2013 · Magdalena Koczkowska, Beata S. Lipska, et al. · Polish Journal of Pathology · 17
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Original article Exhaled nitric oxide correlates with IL-2, MCP-1, PDGF-BB and TIMP-2 in exhaled breath condensate of children with refractory asthma
2015 · Agnieszka Brzozowska, Paweł Majak, et al. · Advances in Dermatology and Allergology · 15
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Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
2012 · Alina Kuzniacka, Jolanta Wierzba, et al. · Journal of Applied Genetics · 14
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Identifying differentiation markers between dermal fibroblasts and adipose-derived mesenchymal stromal cells (AD-MSCs) in human visceral and subcutaneous tissues using single-cell transcriptomics
2025 · Magdalena Koczkowska, Anna Kostecka, et al. · Stem Cell Research & Therapy · 13
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Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma
2017 · Magdalena Koczkowska, Beata Stefania Lipska-Ziętkiewicz, et al. · Molecular Cytogenetics · 12
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Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
2023 · Magdalena Koczkowska, Yunjia Chen, et al. · Human Genetics · 11
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Glomerulopathy in patients with distal duplication of chromosome 6p
2016 · Augustina Jankauskienė, Magdalena Koczkowska, et al. · BMC Nephrology · 11
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Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency
2014 · Anna Hogendorf, Beata S. Lipska-Zietkiewicz, et al. · Pediatric Diabetes · 11
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On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma
2013 · Beata S Lipska, Magdalena Koczkowska, et al. · Molecular Cytogenetics · 11
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Genotype–Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]
2024 · Yunjia Chen, Yulong Fu, et al. · Cancers · 10
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience
2021 · Arkadiusz Piotrowski, Magdalena Koczkowska, et al. · Human Mutation · 10
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Works count: 76
Citation count: 971
H-index: 15
I10-index: 25
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