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List of works by Dijana Plaseska-Karanfilska

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Association analysis identifies 65 new breast cancer risk loci

scientific article published on 23 October 2017
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article
Loss of Y Chromosome in Peripheral Blood of Colorectal and Prostate Cancer Patients

scientific article
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

scientific article published on 18 June 2018
Proteomic analysis of seminal plasma in men with different spermatogenic impairment

scientific article published on 31 January 2012
Association study of single-nucleotide polymorphisms in FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR, and TAS2R38 genes with male infertility.

scientific article
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology
Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications

scientific article published on 01 December 2008
Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications
Genetic causes of male infertility

scientific article published on December 2012
NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy

scientific article
MicroRNA expression profiles in testicular biopsies of patients with impaired spermatogenesis

scientific article
HPV E6/E7 mRNA versus HPV DNA biomarker in cervical cancer screening of a group of Macedonian women.

scientific article
Rare ATAD5 missense variants in breast and ovarian cancer patients

scientific article
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article
Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension

scientific article
Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot method

scientific article published on 24 October 2011
Hb Jambol: a new hyperunstable hemoglobin causing severe hemolytic anemia.

scientific article published on 8 November 2006
Prevalence of hepatitis C virus genotypes in risk groups in the Republic of Macedonia: A 5 years survey

scientific article published on August 19, 2013
Fast, reliable and low cost user-developed protocol for detection, quantification and genotyping of hepatitis C virus.

scientific article published on 21 November 2013
MicroRNA Profiling in Patients with Upper Tract Urothelial Carcinoma Associated with Balkan Endemic Nephropathy

scientific article published on 27 April 2016
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020
Molecular characterization of cystinuria in south-eastern European countries

scientific article published on 27 December 2012
Genetic variation of the brca1 and brca2 genes in macedonian patients

scientific article published on December 2012
Genetics of non syndromic hearing loss in the republic of macedonia

scientific article published on December 2012
A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia

scientific article published on June 2013
Study of Three Single Nucleotide Polymorphisms in the SLC6A14 Gene in Association with Male Infertility

scientific article published on December 2014
TIMP3 Promoter Methylation Represents an Epigenetic Marker of BRCA1ness Breast Cancer Tumours

scientific article published on 09 March 2018
Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.

scientific article published in January 2018
Fanconi anemia founder mutation in Macedonian patients

scientific article published on 13 December 2013
MicroRNAs in Breast Cancer -Our Initial Results

scientific article published on December 2012
Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019
Human seminal plasma proteome study: a search for male infertility biomarkers

scientific article
Differential diagnosis of Hb EE and Hb E-beta(0)-thalassemia by protein and DNA analyses

scientific article published on 01 January 2000
Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk

scientific article published on 10 August 2016
Study of the hepatitis C virus in the republic of macedonia

scientific article published on December 2012
CAG Repeat Number in the Androgen Receptor Gene and Prostate Cancer.

scientific article published on June 2012
BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.

scientific article published on 15 January 2018
Multilevel regression modeling for aneuploidy classification and physical separation of maternal cell contamination facilitates the QF-PCR based analysis of common fetal aneuploidies

scientific article published on 20 August 2019
Molecular Diagnostics of ß-Thalassemia

scientific article published on December 1, 2012
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020
SNaPshot assay for the detection of the most common CFTR mutations in infertile men.

scientific article
Molecular and Immunohistochemical Characteristics of Complete Hydatidiform Moles.

scientific article published on 30 June 2017
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019
De novo mutations in idiopathic male infertility - a pilot study

scientific article published on 29 August 2020
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

scientific article published in July 2021
Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family.

scientific article published on 27 July 2015

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