Rafał Płoski

Research interests

Publications

• Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

  Journal of the American College of Cardiology · 2018 · https://doi.org/10.1016/j.jacc.2018.08.2181

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

  Journal of Translational Medicine · 2016 · https://doi.org/10.1186/s12967-016-0930-9

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

  Forensic Science International Genetics · 2015 · https://doi.org/10.1016/j.fsigen.2015.05.001

• CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

  The American Journal of Human Genetics · 2015 · https://doi.org/10.1016/j.ajhg.2014.12.013

• Examination of DNA methylation status of the ELOVL2 marker may be useful for human age prediction in forensic science

  Forensic Science International Genetics · 2014 · https://doi.org/10.1016/j.fsigen.2014.10.002

• Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

  Human Mutation · 2014 · https://doi.org/10.1002/humu.22599

• Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications

  The American Journal of Human Genetics · 2010 · https://doi.org/10.1016/j.ajhg.2010.08.006

• Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR® Yfiler® PCR amplification kit

  International Journal of Legal Medicine · 2009 · https://doi.org/10.1007/s00414-009-0342-y

• Correlation between Genetic and Geographic Structure in Europe

  Current Biology · 2008 · https://doi.org/10.1016/j.cub.2008.07.049

• Cytotoxic T-Lymphocyte Associated Antigen 4 Gene Polymorphisms and Autoimmune Thyroid Disease: A Meta-Analysis

  The Journal of Clinical Endocrinology & Metabolism · 2007 · https://doi.org/10.1210/jc.2007-0147

• Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves’ disease in a Polish population: association and gene dose‐dependent correlation with age of onset

  Clinical Endocrinology · 2005 · https://doi.org/10.1111/j.1365-2265.2005.02279.x

• GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

  The American Journal of Human Genetics · 2005 · https://doi.org/10.1086/497996

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

  Human Genetics · 2005 · https://doi.org/10.1007/s00439-005-1333-9

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

  PubMed · 2003

• Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes

  Forensic Science International · 2001 · https://doi.org/10.1016/s0379-0738(00)00478-3

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

  Arthritis & Rheumatism · 1995 · https://doi.org/10.1002/art.1780380210

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

  Tissue Antigens · 1993 · https://doi.org/10.1111/j.1399-0039.1993.tb01998.x

Current projects

No projects listed.