List of works - Dijana Plaseska-Karanfilska

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

A new familial mutation (R133G) in the SRY gene

scientific article published on 01 May 2007

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

scientific article published on 18 June 2018

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association of TNF-a (rs361525 and rs1800629) with susceptibility to cervical intraepithelial lesion and cervical carcinoma in women from Republic of North Macedonia

scientific article published on 14 July 2020

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

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

scientific article published on 18 August 2021

Association study of single-nucleotide polymorphisms in FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR, and TAS2R38 genes with male infertility.

scientific article

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

BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.

scientific article published on 15 January 2018

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

CAG Repeat Number in the Androgen Receptor Gene and Prostate Cancer.

scientific article published on June 2012

CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia.

scientific article published on December 2015

Clinical relevance of CHEK2 and NBN mutations in the macedonian population

scientific article published on June 2015

De novo mutations in idiopathic male infertility - a pilot study

scientific article published on 29 August 2020

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

scientific article published on 24 October 2011

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

scientific article published on 01 January 2000

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

scientific article

Fanconi anemia founder mutation in Macedonian patients

scientific article published on 13 December 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

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia.

scientific article published on 8 December 2017

Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk

scientific article published on 10 August 2016

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

Genetic causes of male infertility

scientific article published on December 2012

Genetic variation in leptin and leptin receptor genes as a risk factor for idiopathic male infertility

scientific article

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

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

article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

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

scientific article

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

Hb Jambol: a new hyperunstable hemoglobin causing severe hemolytic anemia.

scientific article published on 8 November 2006

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation

scientific article published on 21 January 2019

Human seminal plasma proteome study: a search for male infertility biomarkers

scientific article

Identification of six novel F9 mutations among haemophilia B patients from Macedonia and Bulgaria.

scientific article published on 13 January 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

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

scientific article

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

scientific article published in October 2021

MicroRNA Profiling in Patients with Upper Tract Urothelial Carcinoma Associated with Balkan Endemic Nephropathy

scientific article published on 27 April 2016

MicroRNA expression profiles in testicular biopsies of patients with impaired spermatogenesis

scientific article

MicroRNAs in Breast Cancer -Our Initial Results

scientific article published on December 2012

Molecular Diagnostics of β-Thalassemia.

scientific article

Molecular and Immunohistochemical Characteristics of Complete Hydatidiform Moles.

scientific article published on 30 June 2017

Molecular and histological characteristics of early triploid and partial molar pregnancies

scientific article published in January 2017

Molecular characterization of cystinuria in south-eastern European countries

scientific article published on 27 December 2012

Moleculary Confirmed, Cytogenetic Remission in a Case with Myelodysplastic Syndrome Treated with Azacitidne

scientific article published on 01 December 2017

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

NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy

scientific article

National Reference Centre for Genomics and Proteomics - MACPROGEN

scientific article published on December 2012

Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.

scientific article published in January 2018

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Proteomic analysis of seminal plasma in men with different spermatogenic impairment

scientific article published on 31 January 2012

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications

scientific article published on 01 December 2008

Rapid and non invasive prenatal diagnosis.

scientific article published on December 2012

Rare ATAD5 missense variants in breast and ovarian cancer patients

scientific article

Rare germline copy number variants (CNVs) and breast cancer risk

scientific article published on 18 January 2022

SNaPshot assay for the detection of the most common CFTR mutations in infertile men.

scientific article

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Study of Three Single Nucleotide Polymorphisms in the SLC6A14 Gene in Association with Male Infertility

scientific article published on December 2014

Study of the hepatitis C virus in the republic of macedonia

scientific article published on December 2012

TIMP3 Promoter Methylation Represents an Epigenetic Marker of BRCA1ness Breast Cancer Tumours

scientific article published on 09 March 2018

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

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

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

List of works by Dijana Plaseska-Karanfilska

A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia

A new familial mutation (R133G) in the SRY gene

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

Association analysis identifies 65 new breast cancer risk loci.

Association of TNF-a (rs361525 and rs1800629) with susceptibility to cervical intraepithelial lesion and cervical carcinoma in women from Republic of North Macedonia

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

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Association study of single-nucleotide polymorphisms in FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR, and TAS2R38 genes with male infertility.

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

CAG Repeat Number in the Androgen Receptor Gene and Prostate Cancer.

CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia.

Clinical relevance of CHEK2 and NBN mutations in the macedonian population

De novo mutations in idiopathic male infertility - a pilot study

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

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

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

Fanconi anemia founder mutation in Macedonian patients

Fast, reliable and low cost user-developed protocol for detection, quantification and genotyping of hepatitis C virus.

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia.

Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Genetic causes of male infertility

Genetic variation in leptin and leptin receptor genes as a risk factor for idiopathic male infertility

Genetic variation of the brca1 and brca2 genes in macedonian patients

Genetics of non syndromic hearing loss in the republic of macedonia

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

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

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

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

Hb Jambol: a new hyperunstable hemoglobin causing severe hemolytic anemia.

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation

Human seminal plasma proteome study: a search for male infertility biomarkers

Identification of six novel F9 mutations among haemophilia B patients from Macedonia and Bulgaria.

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

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

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

MicroRNA Profiling in Patients with Upper Tract Urothelial Carcinoma Associated with Balkan Endemic Nephropathy

MicroRNA expression profiles in testicular biopsies of patients with impaired spermatogenesis

MicroRNAs in Breast Cancer -Our Initial Results

Molecular Diagnostics of β-Thalassemia.

Molecular and Immunohistochemical Characteristics of Complete Hydatidiform Moles.

Molecular and histological characteristics of early triploid and partial molar pregnancies

Molecular characterization of cystinuria in south-eastern European countries

Moleculary Confirmed, Cytogenetic Remission in a Case with Myelodysplastic Syndrome Treated with Azacitidne

Multilevel regression modeling for aneuploidy classification and physical separation of maternal cell contamination facilitates the QF-PCR based analysis of common fetal aneuploidies

NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy

National Reference Centre for Genomics and Proteomics - MACPROGEN

Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Proteomic analysis of seminal plasma in men with different spermatogenic impairment

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications

Rapid and non invasive prenatal diagnosis.

Rare ATAD5 missense variants in breast and ovarian cancer patients

Rare germline copy number variants (CNVs) and breast cancer risk

SNaPshot assay for the detection of the most common CFTR mutations in infertile men.

Shared heritability and functional enrichment across six solid cancers

Shared heritability and functional enrichment across six solid cancers

Study of Three Single Nucleotide Polymorphisms in the SLC6A14 Gene in Association with Male Infertility

Study of the hepatitis C virus in the republic of macedonia

TIMP3 Promoter Methylation Represents an Epigenetic Marker of BRCA1ness Breast Cancer Tumours

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Two truncating variants in FANCC and breast cancer risk