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Biology and Biochemistry

D-Index
59
Citations
15997
World Ranking
12362
National Ranking
12

Overview

Rafał Płoski is affiliated with the Medical University of Warsaw in Poland. The researcher's work spans a broad scope within the intersecting fields of Biochemistry, Genetics and Molecular Biology, and Medicine, contributing extensively with 266 and 216 publications respectively. Their expertise is particularly notable in Molecular Biology and Genetics, with 129 and 116 publications, and extends into specialized subfields such as Cardiology and Cardiovascular Medicine, Surgery, and Pulmonary and Respiratory Medicine.

The scientist focuses on several main research topics, including Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Cardiomyopathy and Myosin Studies, RNA modifications and cancer, Congenital heart defects research, Mitochondrial Function and Pathology, and Genomic variations and chromosomal abnormalities.

Płoski's recent publications demonstrate engagement with diverse research challenges. Noteworthy papers include:

  • Development of the VISAGE enhanced tool and statistical models for epigenetic age estimation in blood, buccal cells and bones (2021, Aging)
  • Natural History of MYH7-Related Dilated Cardiomyopathy (2022, Journal of the American College of Cardiology)
  • Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit (2020, Journal of Clinical Medicine)
  • iPSC-derived myelinoids to study myelin biology of humans (2021, Developmental Cell)
  • Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers (2020, Human Mutation)

The researcher collaborates frequently with several co-authors. The most prominent among them are Małgorzata Rydzanicz, Agnieszka Pollak, Robert Śmigiel, Piotr Stawiński, and Zofia T. Bilińska.

Rafał Płoski's work appears regularly in specific scientific venues, reflecting a focus on genetics, molecular sciences, and medical genetics. These frequent publication outlets include:

  • Genes
  • International Journal of Molecular Sciences
  • American Journal of Medical Genetics Part A
  • Pancreatology
  • Polskie Archiwum Medycyny Wewnętrznej

Best Publications

  • GJB2 mutations and degree of hearing loss: a multicenter study.

    Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin

  • Correlation between genetic and geographic structure in Europe.

    Oscar Lao;Timothy T. Lu;Michael Nothnagel;Olaf Junge

  • Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases and forensic implications

    Kaye N. Ballantyne;Miriam Goedbloed;Rixun Fang;Onno Schaap

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

    Tarra L. Mcdowell;Julian A. Symons;Rafal Ploski;ØYstein FØRre

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

    Berit FlatØ;Gunhild Lien;Anna Smerdel;Odd Vinje

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

    L. Roewer;M. Krawczak;S. Willuweit;M. Nagy

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

    Renata Zbieć-Piekarska;Magdalena Spólnicka;Tomasz Kupiec;Agnieszka Parys-Proszek

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

    Josephine Purps;Sabine Siegert;Sascha Willuweit;Marion Nagy

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

    Fotini K. Kavvoura;Takashi Akamizu;Takuya Awata;Yoshiyuki Ban

  • On the HLA-DQ(alpha 1*0501, beta 1*0201)-associated susceptibility in celiac disease: a possible gene dosage effect of DQB1*0201.

    Rafal Ploski;Johan Ek;Erik Thorsby;Ludvig M. Sollid

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

    Ewa Pronicka;Dorota Piekutowska-Abramczuk;Elżbieta Ciara;Joanna Trubicka

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

    Renata Zbieć-Piekarska;Magdalena Spólnicka;Tomasz Kupiec;Żanetta Makowska

  • Monogenic variants in dystonia: an exome-wide sequencing study.

    Michael Zech;Robert Jech;Sylvia Boesch;Matej Škorvánek

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

    Kaye N Ballantyne;Kaye N Ballantyne;Arwin Ralf;Rachid Aboukhalid;Niaz M Achakzai

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

    Agata Skórka;Tomasz Bednarczuk;Ewa Bar-Andziak;Janusz Nauman

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

    Manfred Kayser;Oscar Lao;Katja Anslinger;Christa Augustin

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

    Miriam Goedbloed;Mark Vermeulen;Rixun N. Fang;Maria Lembring;Maria Lembring

  • The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269.

    George B. J. Busby;Francesca Brisighelli;Francesca Brisighelli;Francesca Brisighelli;Paula Sánchez-Diz;Eva Ramos-Luis

  • Coexisting polymorphisms of P2Y12 and CYP2C19 genes as a risk factor for persistent platelet activation with clopidogrel.

    Lukasz A. Malek;Bartlomiej Kisiel;Mateusz Spiewak;Marcin Grabowski

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

    Saskia B. Wortmann;Szymon Ziętkiewicz;Maria Kousi;Radek Szklarczyk

Frequent Co-Authors

Øystein Førre
Øystein Førre Oslo University Hospital
Erik Thorsby
Erik Thorsby Oslo University Hospital
Tomasz Laskus
Tomasz Laskus Medical University of Warsaw
Walther Parson
Walther Parson Innsbruck Medical University
Manfred Kayser
Manfred Kayser Erasmus University Rotterdam
Holger Prokisch
Holger Prokisch Technical University of Munich
Andrzej Horban
Andrzej Horban Medical University of Warsaw
Tobias B. Haack
Tobias B. Haack University of Tübingen
Antti Sajantila
Antti Sajantila University of Helsinki
Tomasz Gambin
Tomasz Gambin Warsaw University of Technology

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