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List of works by Rafał Płoski

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Correlation between genetic and geographic structure in Europe

scientific article
GJB2 mutations and degree of hearing loss: a multicenter study

scientific article
Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.

scientific article
A genetic association between juvenile rheumatoid arthritis and a novel interleukin-1α polymorphism

scientific article published on 01 February 1995
Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes

scientific article published on 01 May 2001
Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease: a meta-analysis

scientific article
Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis

scientific article
Prognostic factors in juvenile rheumatoid arthritis: a case-control study revealing early predictors and outcome after 14.9 years.

scientific article published in February 2003
Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCR amplification kit

scientific article published on 26 March 2009
The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269

scientific article
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

scientific article
Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis

scientific article
A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

scientific article (publication date: September 2014)
On the HLA-DQ(α1*0501, β1*0201)-associated susceptibility in celiac disease: A possible gene dosage effect ofDQB1*0201

article
Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

scientific article published in January 2014
Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population: association and gene dose-dependent correlation with age of onset

scientific article published in June 2005
M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

scientific article published on 01 November 2007
Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

scientific article published on 03 February 2010
Cumulative risk impact of five genetic variants associated with papillary thyroid carcinoma

scientific article published on 29 August 2013
Coexisting polymorphisms of P2Y12 and CYP2C19 genes as a risk factor for persistent platelet activation with clopidogrel.

scientific article published in July 2008
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article
Inverse association of the obesity predisposing FTO rs9939609 genotype with alcohol consumption and risk for alcohol dependence

scientific article published on 23 December 2010
Examination of DNA methylation status of the ELOVL2 marker may be useful for human age prediction in forensic science

scientific article published on 14 October 2014
Association of CD40 gene polymorphism (C-1T) with susceptibility and phenotype of Graves' disease

article
Development of a forensically useful age prediction method based on DNA methylation analysis

article
Toward male individualization with rapidly mutating y-chromosomal short tandem repeats

scientific article
Susceptibility genes in Graves' ophthalmopathy: searching for a needle in a haystack?

scientific article published on 23 May 2007
Linkage disequilibrium between TAP2 variants and HLA class II alleles; no primary association between TAP2 variants and insulin-dependent diabetes mellitus

article
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

scientific article
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article
Does the KIR2DS5 gene protect from some human diseases?

scientific article
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

scientific article
SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility

scientific article published on 28 March 2013
Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohort

scientific article
The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives

scientific article
Hla class ii alleles and heterogeneity of juvenile rheumatoid arthritis.drb1*0101 may define a novel subset of the disease

scientific article published on 01 April 1993
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

scientific journal article
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

scientific article published on 4 February 2016
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

scientific article published on 08 June 2016
Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.

scientific article published on 28 March 2010
Peritoneal cytokines and adhesion formation in endometriosis: an inverse association with vascular endothelial growth factor concentration

scientific article published on 28 April 2012
Association of NFKB1 −94ins/del ATTG promoter polymorphism with susceptibility to and phenotype of Graves' disease

article
The genetic basis of graves' disease

scientific article published on December 2011
Association to HLA-DRB1∗08, HLA-DPB1∗0301 and homozygosity for an HLA-linked proteasome gene in juvenile ankylosing spondylitis

article
Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

article
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

scientific article published on 4 May 2016
Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves' disease in three European Caucasian cohorts.

scientific article
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016
Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma

scientific article

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