Magdalena Koczkowska

Author

Gdańsk Medical University ORCID

Also Known As

Claes, Kathleen B. M., Digilio, Maria C., Katharina Wimmer, MAGDALENA KOCZKOWSKA, Magdalena Koczkowska

Publications

909

Citations

H-Index

Concepts

All Affiliations

Gdańsk Medical University Boston Children's Hospital Casa Sollievo della Sofferenza Fondazione IRCCS Istituto Neurologico Carlo Besta Ghent University Hospital

About

Magdalena Koczkowska is an author at Gdańsk Medical University specializing in pathology, medicine, and molecular diagnostics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	74
2	Engineering	1	1	12
3	Health Sciences	1	1	18
4	Social Sciences	1	1	19
5	Biomedical Engineering	1	1	18

Magdalena Koczkowska

Publications

827

Citations

H-Index

Page 1

	Year	Citations
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, The American Journal of Human Genetics	2017	203
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, Human Mutation	2019	130
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, Genetics in Medicine	2018	93
Detection of <i>BRCA1/2</i> mutations in circulating tumor DNA from patients with ovarian cancer Magdalena Ratajska, Magdalena Koczkowska, Monika Żuk, Oncotarget	2017	45
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients Magdalena Koczkowska, Natalia Krawczyńska, Maciej Stukan, Cancers	2018	40
Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example Katarzyna Klonowska, Magdalena Ratajska, Karol Czubak, Scientific Reports	2015	40
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, Cancer Medicine	2016	38
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing Anna Kostecka, Tomasz Nowikiewicz, Paweł Olszewski, npj Breast Cancer	2022	26
Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms Magdalena Ratajska, Magdalena Matusiak, Alina Kuźniacka, Oncology Reports	2015	25
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel, Journal of Applied Genetics Gene Deletion DataGeneticsPathologyDisease Gene IdentificationGenomics	2016	25

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