All Stories

  1. Association of serotoninergic pathway gene variants with elite athletic status in the Polish population

    Article • Journal of Sports Sciences, March 2019, Taylor & Francis

    Professor Rafal Ploski

  2. A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation

    Article • American Journal of Medical Genetics Part A, October 2018, Wiley

    Professor Rafal Ploski

  3. Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

    Article • Clinical Genetics, October 2018, Wiley

    Professor Rafal Ploski

  4. Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

    Article • Clinical Genetics, August 2018, Wiley

    Professor Rafal Ploski

  5. A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa

    Article • Clinical Genetics, December 2017, Wiley

    Professor Rafal Ploski

  6. New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation

    Article • Clinical Genetics, October 2017, Wiley

    Professor Rafal Ploski

  7. Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

    Article • American Journal of Medical Genetics Part A, September 2017, Wiley

    Professor Rafal Ploski

  8. Co-occurrence of Jalili syndrome and muscular overgrowth

    Article • American Journal of Medical Genetics Part A, June 2017, Wiley

    Professor Rafal Ploski

  9. KIF5A de novomutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

    Article • Clinical Genetics, September 2016, Wiley

    Professor Rafal Ploski, Przemko Kwinta

  10. Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy

    Article • American Journal of Medical Genetics Part A, September 2016, Wiley

    Professor Rafal Ploski

  11. SETD5loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

    Article • American Journal of Medical Genetics Part A, July 2016, Wiley

    Professor Rafal Ploski

  12. Correcting for binomial measurement error in predictors in regression with application to analysis of DNA methylation rates by bisulfite sequencing

    Article • Statistics in Medicine, June 2016, Wiley

    Professor Rafal Ploski

  13. Spondyloepimetaphyseal dysplasia with neurodegeneration associated withAIFM1mutation - a novel phenotype of the mitochondrial disease

    Article • Clinical Genetics, June 2016, Wiley

    Professor Rafal Ploski

  14. Increased concentration of T-cell receptor rearrangement excision circles (TREC) in peripheral blood in Graves' disease

    Article • Clinical Endocrinology, June 2014, Wiley

    Professor Rafal Ploski

  15. Differences in genetic predisposition to Graves' disease and Graves' orbitopathy between young and elderly patients

    Article • Endocrine Abstracts, April 2014, Bioscientifica

    Professor Rafal Ploski

  16. Late-Onset Lattice Corneal Dystrophy Without Typical Lattice Lines Caused by a Novel Mutation in the TGFBI Gene

    Article • Cornea, March 2014, Wolters Kluwer Health

    Professor Rafal Ploski

  17. Analysis of Genotype 1b Hepatitis C Virus IRES in Serum and Peripheral Blood Mononuclear Cells in Patients Treated with Interferon and Ribavirin

    Article • BioMed Research International, January 2014, Hindawi Publishing Corporation

    Professor Rafal Ploski

  18. Cumulative Risk Impact of Five Genetic Variants Associated with Papillary Thyroid Carcinoma

    Article • Thyroid, December 2013, Mary Ann Liebert Inc

    Professor Rafal Ploski

  19. Protective effect of the KIR2DS1 gene in atopic dermatitis

    Article • Gene, September 2013, Elsevier

    Professor Rafal Ploski

  20. Genetic Polymorphism of Human Y Chromosome and Risk Factors for Cardiovascular Diseases: A Study in WOBASZ Cohort

    Article • PLoS ONE, July 2013, PLOS

    Professor Rafal Ploski

  21. State of the art paper Contemporary role of medical genetics in internal medicine

    Article • Archives of Medical Science, January 2013, Termedia Sp. z.o.o.

    Professor Rafal Ploski

  22. Ultradeep Pyrosequencing of Hepatitis C Virus Hypervariable Region 1 in Quasispecies Analysis

    Article • BioMed Research International, January 2013, Hindawi Publishing Corporation

    Professor Rafal Ploski

  23. No association between MTHFR C677T polymorphism and completed suicide

    Article • Gene, December 2012, Elsevier

    Professor Rafal Ploski

  24. Unusual phenotype in a family with the R124C mutation in the TGFBI gene

    Article • Acta Ophthalmologica, August 2012, Wiley

    Professor Rafal Ploski

  25. MTHFR 677T Is a Strong Determinant of the Degree of Hearing Loss Among Polish Males with Postlingual Sensorineural Hearing Impairment

    Article • DNA and Cell Biology, July 2012, Mary Ann Liebert Inc

    Professor Rafal Ploski

  26. Peritoneal cytokines and adhesion formation in endometriosis: an inverse association with vascular endothelial growth factor concentration

    Article • Fertility and Sterility, June 2012, Elsevier

    Professor Rafal Ploski

  27. The replication of the association of the rs6832151 within chromosomal band 4p14 with Graves' disease in a Polish Caucasian population

    Article • Tissue Antigens, April 2012, Wiley

    Professor Rafal Ploski

  28. Variants of the Lamin A/C (LMNA) Gene in Non-Valvular Atrial Fibrillation Patients

    Article • Molecular Diagnosis & Therapy, April 2012, Springer Science + Business Media

    Professor Rafal Ploski

  29. The Genetic Basis of Graves Disease

    Article • Current Genomics, December 2011, Bentham Science Publishers

    Professor Rafal Ploski

  30. Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed?

    Article • PLoS ONE, June 2011, PLOS

    Professor Rafal Ploski

  31. Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex

    Article • Journal of Dermatological Science, January 2011, Elsevier

    Professor Rafal Ploski

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

    Article • Addiction, December 2010, Wiley

    Professor Rafal Ploski

  33. A new c.1621 C>G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype–phenotype correlation

    Article • Journal of Human Genetics, November 2010, Springer Science + Business Media

    Professor Rafal Ploski

  34. Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene

    Article • International Journal of Cardiology, October 2010, Elsevier

    Professor Rafal Ploski

  35. Molecular bases of metachromatic leukodystrophy in Polish patients

    Article • Journal of Human Genetics, March 2010, Springer Science + Business Media

    Professor Rafal Ploski

  36. Cardiac rhabdomyoma in tuberous sclerosis: Hyperactive Erk signaling

    Article • International Journal of Cardiology, February 2009, Elsevier

    Professor Rafal Ploski, Dr Mustafa Sahin

  37. NullHap – a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles

    Article • BMC Bioinformatics, August 2008, Springer Science + Business Media

    Professor Rafal Ploski

  38. Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma

    Article • European Journal of Human Genetics, June 2007, Springer Science + Business Media

    Professor Rafal Ploski

  39. Susceptibility genes in Graves’ ophthalmopathy: searching for a needle in a haystack?

    Article • Clinical Endocrinology, April 2007, Wiley

    Professor Rafal Ploski

  40. Clinical, biochemical and genetical resistance to clopidogrel in a patient with the recurrent coronary stent thrombosis—a case report and review of the literature

    Article • International Journal of Cardiology, August 2006, Elsevier

    Professor Rafal Ploski

  41. A Role for KIR Gene Variants Other Than KIR2DS1 in Conferring Susceptibility to Psoriasis

    Article • Human Immunology, July 2006, Elsevier

    Professor Rafal Ploski

  42. Validation of nine non-CODIS STR loci for forensic use in a population from Central Poland

    Article • Forensic Science International, June 2006, Elsevier

    Professor Rafal Ploski

  43. Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins

    Article • International Journal of Cardiology, November 2005, Elsevier

    Professor Rafal Ploski

  44. Association of CD40 Gene Polymorphism (C-1T) with Susceptibility and Phenotype of Graves' Disease

    Article • Thyroid, October 2005, Mary Ann Liebert Inc

    Professor Rafal Ploski

  45. Distribution of TNFA haplotypes in healthy Caucasians: Comment on the articles by Newton et al and Zeggini et al

    Article • Arthritis & Rheumatism, June 2004, Wiley

    Professor Rafal Ploski

  46. Borrelia burgdorferisensu lato infection in passerine birds from the Mazurian Lake region (Northeastern Poland)

    Article • Avian Pathology, February 2004, Taylor & Francis

    Professor Rafal Ploski

  47. STR data for the power plex-16 loci in a population from Central Poland

    Article • Forensic Science International, January 2004, Elsevier

    Professor Rafal Ploski

  48. Population genetics of 10 STR loci in a population of Central Poland

    Article • Forensic Science International, November 2002, Elsevier

    Professor Rafal Ploski

  49. A gene in the telomeric HLA complex distinct from HLA–A is involved in predisposition to juvenile idiopathic arthritis

    Article • Arthritis & Rheumatism, June 2002, Wiley

    Professor Rafal Ploski

  50. Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis

    Article • Human Genetics, May 2002, Springer Science + Business Media

    Professor Rafal Ploski

  51. HLA–DRI and susceptibility to acute anterior uveitis in ankylosing spondylitis: Comment on the article by Monowarul Islam et al

    Article • Arthritis & Rheumatism, February 1996, Wiley

    Professor Rafal Ploski

  52. A genetic association between juvenile rheumatoid arthritis and a novel interleukin‐1α polymorphism

    Article • Arthritis & Rheumatism, February 1995, Wiley

    Professor Rafal Ploski

  53. Lack of association with T-cell receptor TCRBV6S1 * 2 allele in HLA-DQA1 * 0101-positive Norwegian juvenile chronic arthritis patients

    Article • Immunogenetics, September 1993, Springer Science + Business Media

    Professor Rafal Ploski

  54. On the HLA‐DQ(α1*0501, β1*0201)‐associated susceptibility in celiac disease: A possible gene dosage effect of DQB1*0201

    Article • Tissue Antigens, April 1993, Wiley

    Professor Rafal Ploski

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

    Article • Arthritis & Rheumatism, April 1993, Wiley

    Professor Rafal Ploski

  56. Dw14 is a Dw4independent risk factor for rheumatoid arthritis among Norwegians

    Article • Tissue Antigens, May 1992, Wiley

    Professor Rafal Ploski