Rafal Ploski

Rafal Ploski

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Rafal Ploski

Publications by authors named "Rafal Ploski"

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FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.

Clin Genet 2019 Nov 6;96(5):468-472. Epub 2019 Aug 6.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13614
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http://dx.doi.org/10.1111/cge.13614DOI Listing
November 2019

A different background of arrhythmia in siblings with a positive family history of sudden death at young age.

Ann Noninvasive Electrocardiol 2019 Oct 14:e12707. Epub 2019 Oct 14.

Unit for Screening Studies in Inherited Cardiovascular Diseases, The Cardinal Stefan Wyszynski Institute of Cardiology, Warsaw, Poland.

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http://dx.doi.org/10.1111/anec.12707DOI Listing
October 2019

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

J Appl Genet 2019 Oct 18. Epub 2019 Oct 18.

Department of Pediatrics, Nutrition and Metabolic Disease, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-019-00523-wDOI Listing
October 2019

A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.

Eur J Med Genet 2019 Sep 22;62(9):103557. Epub 2018 Oct 22.

Department of Neonatal Intensive Care, The Children's Memorial Health Institute, Poland.

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http://dx.doi.org/10.1016/j.ejmg.2018.10.009DOI Listing
September 2019

Genetic muscle disorder mimicking atrial arrhythmias with conduction defects requiring pacemaker implantation.

Pol Arch Intern Med 2019 09 13;129(9):627-629. Epub 2019 May 13.

Department of Arrhythmia, The Cardinal Stefan Wyszyński Institute of Cardiology, Warsaw, Poland

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http://dx.doi.org/10.20452/pamw.14829DOI Listing
September 2019

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.

Clin Genet 2019 Sep 10;96(3):274-275. Epub 2019 Jul 10.

Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.

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http://dx.doi.org/10.1111/cge.13592DOI Listing
September 2019

DNA-based predictive models for the presence of freckles.

Forensic Sci Int Genet 2019 09 30;42:252-259. Epub 2019 Jul 30.

Malopolska Centre of Biotechnology of the Jagiellonian University, Gronostajowa St. 7A, 30-387 Kraków, Poland; Central Forensic Laboratory of the Police, Aleje Ujazdowskie 7, 00-583 Warszawa, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2019.07.012DOI Listing
September 2019

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

J Sports Sci 2019 Jul 5;37(14):1655-1662. Epub 2019 Mar 5.

c Department of Sport's Theory , Jozef Pilsudski University of Physical Education in Warsaw , Warsaw , Poland.

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http://dx.doi.org/10.1080/02640414.2019.1583156DOI Listing
July 2019

Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm.

Int J Hematol 2019 Jul 11;110(1):102-106. Epub 2019 Apr 11.

Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Szamarzewskiego 84, Greater Poland, 60-569, Poznan, Poland.

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http://dx.doi.org/10.1007/s12185-019-02642-wDOI Listing
July 2019

Primary progressive multiple sclerosis and neurofibromatosis type 1.

Mult Scler Relat Disord 2019 Jul 25;32:66-69. Epub 2019 Apr 25.

Department of Clinical Neuroimmunology, Chair and Department of Neurology, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355 Poznan, Poland.

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http://dx.doi.org/10.1016/j.msard.2019.04.016DOI Listing
July 2019

Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.

Ann Noninvasive Electrocardiol 2019 May 23;24(3):e12624. Epub 2019 Jan 23.

Department of Congenital Heart Diseases, Institute of Cardiology, Warsaw, Poland.

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http://doi.wiley.com/10.1111/anec.12624
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http://dx.doi.org/10.1111/anec.12624DOI Listing
May 2019

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Parkinsonism Relat Disord 2019 May 24;62:239-241. Epub 2019 Jan 24.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.017DOI Listing
May 2019

Subsequent Event Risk in Individuals With Established Coronary Heart Disease.

Authors:
Riyaz S Patel Vinicius Tragante Amand F Schmidt Raymond O McCubrey Michael V Holmes Laurence J Howe Kenan Direk Axel Åkerblom Karin Leander Salim S Virani Karol A Kaminski Jochen D Muehlschlegel Hooman Allayee Peter Almgren Maris Alver Ekaterina V Baranova Hassan Behloui Bram Boeckx Peter S Braund Lutz P Breitling Graciela Delgado Nubia E Duarte Marie-Pierre Dubé Line Dufresne Niclas Eriksson Luisa Foco Markus Scholz Crystel M Gijsberts Charlotte Glinge Yan Gong Jaana Hartiala Mahyar Heydarpour Jaroslav A Hubacek Marcus Kleber Daniel Kofink Salma Kotti Pekka Kuukasjärvi Vei-Vei Lee Andreas Leiherer Petra A Lenzini Daniel Levin Leo-Pekka Lyytikäinen Nicola Martinelli Ute Mons Christopher P Nelson Kjell Nikus Anna P Pilbrow Rafal Ploski Yan V Sun Michael W T Tanck W H Wilson Tang Stella Trompet Sander W van der Laan Jessica Van Setten Ragnar O Vilmundarson Chiara Viviani Anselmi Efthymia Vlachopoulou Lawien Al Ali Eric Boerwinkle Carlo Briguori John F Carlquist Kathryn F Carruthers Gavino Casu John Deanfield Panos Deloukas Frank Dudbridge Thomas Engstrøm Natalie Fitzpatrick Kim Fox Bruna Gigante Stefan James Marja-Liisa Lokki Paulo A Lotufo Nicola Marziliano Ify R Mordi Joseph B Muhlestein Christopher Newton-Cheh Jan Pitha Christoph H Saely Ayman Samman-Tahhan Pratik B Sandesara Andrej Teren Adam Timmis Frans Van de Werf Els Wauters Arthur A M Wilde Ian Ford David J Stott Ale Algra Maria G Andreassi Diego Ardissino Benoit J Arsenault Christie M Ballantyne Thomas O Bergmeijer Connie R Bezzina Simon C Body Eric H Boersma Peter Bogaty Michiel L Bots Hermann Brenner Jasper J Brugts Ralph Burkhardt Clara Carpeggiani Gianluigi Condorelli Rhonda M Cooper-DeHoff Sharon Cresci Nicolas Danchin Ulf de Faire Robert N Doughty Heinz Drexel James C Engert Keith A A Fox Domenico Girelli Diederick E Grobbee Emil Hagström Stanley L Hazen Claes Held Harry Hemingway Imo E Hoefer G Kees Hovingh Reza Jabbari Julie A Johnson J Wouter Jukema Marcin P Kaczor Mika Kähönen Jiri Kettner Marek Kiliszek Olaf H Klungel Bo Lagerqvist Diether Lambrechts Jari O Laurikka Terho Lehtimäki Daniel Lindholm B K Mahmoodi Anke H Maitland-van der Zee Ruth McPherson Olle Melander Andres Metspalu Anna Niemcunowicz-Janica Oliviero Olivieri Grzegorz Opolski Colin N Palmer Gerard Pasterkamp Carl J Pepine Alexandre C Pereira Louise Pilote Arshed A Quyyumi A Mark Richards Marek Sanak Agneta Siegbahn Tabassome Simon Juha Sinisalo J Gustav Smith John A Spertus Steen Stender Alexandre F R Stewart Wojciech Szczeklik Anna Szpakowicz Jean-Claude Tardif Jurriën M Ten Berg Jacob Tfelt-Hansen George Thanassoulis Joachim Thiery Christian Torp-Pedersen Yolanda van der Graaf Frank L J Visseren Johannes Waltenberger Peter E Weeke Pim Van der Harst Chim C Lang Naveed Sattar Vicky A Cameron Jeffrey L Anderson James M Brophy Guillaume Pare Benjamin D Horne Winfried März Lars Wallentin Nilesh J Samani Aroon D Hingorani Folkert W Asselbergs

Circ Genom Precis Med 2019 Apr 21;12(4):e002470. Epub 2019 Mar 21.

Institute of Health Informatics (N.F., A. Timmis, H.H., F.W.A.), Faculty of Population Health Science, University College London, United Kingdom.

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http://dx.doi.org/10.1161/CIRCGEN.119.002470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629546PMC
April 2019

Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events.

Authors:
Riyaz S Patel Amand F Schmidt Vinicius Tragante Raymond O McCubrey Michael V Holmes Laurence J Howe Kenan Direk Axel Åkerblom Karin Leander Salim S Virani Karol A Kaminski Jochen D Muehlschlegel Marie-Pierre Dubé Hooman Allayee Peter Almgren Maris Alver Ekaterina V Baranova Hassan Behlouli Bram Boeckx Peter S Braund Lutz P Breitling Graciela Delgado Nubia E Duarte Line Dufresne Niclas Eriksson Luisa Foco Crystel M Gijsberts Yan Gong Jaana Hartiala Mahyar Heydarpour Jaroslav A Hubacek Marcus Kleber Daniel Kofink Pekka Kuukasjärvi Vei-Vei Lee Andreas Leiherer Petra A Lenzini Daniel Levin Leo-Pekka Lyytikäinen Nicola Martinelli Ute Mons Christopher P Nelson Kjell Nikus Anna P Pilbrow Rafal Ploski Yan V Sun Michael W T Tanck W H Wilson Tang Stella Trompet Sander W van der Laan Jessica van Setten Ragnar O Vilmundarson Chiara Viviani Anselmi Efthymia Vlachopoulou Eric Boerwinkle Carlo Briguori John F Carlquist Kathryn F Carruthers Gavino Casu John Deanfield Panos Deloukas Frank Dudbridge Natalie Fitzpatrick Bruna Gigante Stefan James Marja-Liisa Lokki Paulo A Lotufo Nicola Marziliano Ify R Mordi Joseph B Muhlestein Chris Newton Cheh Jan Pitha Christoph H Saely Ayman Samman-Tahhan Pratik B Sandesara Andrej Teren Adam Timmis Frans Van de Werf Els Wauters Arthur A M Wilde Ian Ford David J Stott Ale Algra Maria G Andreassi Diego Ardissino Benoit J Arsenault Christie M Ballantyne Thomas O Bergmeijer Connie R Bezzina Simon C Body Peter Bogaty Gert J de Borst Hermann Brenner Ralph Burkhardt Clara Carpeggiani Gianluigi Condorelli Rhonda M Cooper-DeHoff Sharon Cresci Ulf de Faire Robert N Doughty Heinz Drexel James C Engert Keith A A Fox Domenico Girelli Emil Hagström Stanley L Hazen Claes Held Harry Hemingway Imo E Hoefer G Kees Hovingh Julie A Johnson Pim A de Jong J Wouter Jukema Marcin P Kaczor Mika Kähönen Jiri Kettner Marek Kiliszek Olaf H Klungel Bo Lagerqvist Diether Lambrechts Jari O Laurikka Terho Lehtimäki Daniel Lindholm Bakhtawar K Mahmoodi Anke H Maitland-van der Zee Ruth McPherson Olle Melander Andres Metspalu Witold Pepinski Oliviero Olivieri Grzegorz Opolski Colin N Palmer Gerard Pasterkamp Carl J Pepine Alexandre C Pereira Louise Pilote Arshed A Quyyumi A Mark Richards Marek Sanak Markus Scholz Agneta Siegbahn Juha Sinisalo J Gustav Smith John A Spertus Alexandre F R Stewart Wojciech Szczeklik Anna Szpakowicz Jurriën M Ten Berg George Thanassoulis Joachim Thiery Yolanda van der Graaf Frank L J Visseren Johannes Waltenberger Pim Van der Harst Jean-Claude Tardif Naveed Sattar Chim C Lang Guillaume Pare James M Brophy Jeffrey L Anderson Winfried März Lars Wallentin Vicky A Cameron Benjamin D Horne Nilesh J Samani Aroon D Hingorani Folkert W Asselbergs

Circ Genom Precis Med 2019 Apr 21;12(4):e002471. Epub 2019 Mar 21.

Institute of Cardiovascular Science, Faculty of Population Health Science (R.S.P., A.F.S., L.J.H., K.D., J.D., A.D.H., F.W.A.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625876PMC
April 2019

Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci.

Invest Ophthalmol Vis Sci 2019 04;60(5):1501-1509

Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1167/iovs.18-25916DOI Listing
April 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

A Novel Monoallelic Nonsense Mutation in the Gene Does Not Cause a Clinical Manifestation.

Front Genet 2019 26;10:140. Epub 2019 Feb 26.

Department of General Biochemistry, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland.

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http://dx.doi.org/10.3389/fgene.2019.00140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399389PMC
February 2019

Selected RANKL/RANK/OPG system genetic variants in diabetic foot patients.

J Diabetes Metab Disord 2018 Dec 9;17(2):287-296. Epub 2018 Nov 9.

2Department of Gastroenterology and Internal Medicine, Medical University of Warsaw, Banacha 1a, Warsaw, 02-097 Poland.

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http://dx.doi.org/10.1007/s40200-018-0372-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405386PMC
December 2018

The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis.

Mol Genet Genomics 2018 Jun 12;293(3):601-613. Epub 2017 Dec 12.

Department of Clinical Immunology, Laboratory of Immunogenetics and Tissue Immunology, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, ul. Rudolfa Weigla 12, 53-114, Wrocław, Poland.

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http://dx.doi.org/10.1007/s00438-017-1404-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948266PMC
June 2018

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

Neurol Neurochir Pol 2017 Nov - Dec;51(6):481-485. Epub 2017 Aug 17.

Department of Neurology, St. Adalbert Hospital, Copernicus, Al. Jana Pawła II 50, 80-462 Gdańsk, Poland; Neurological-Psychiatric Nursing Department, Medical University of Gdańsk, Ul. Dębinki 1, 80-211 Gdańsk, Poland.

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http://dx.doi.org/10.1016/j.pjnns.2017.08.003DOI Listing
March 2018

Perforin gene variation influences survival in childhood acute lymphoblastic leukemia.

Leuk Res 2018 02 2;65:29-33. Epub 2018 Jan 2.

Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.leukres.2017.12.011DOI Listing
February 2018

Restrictive cardiomyopathy due to novel desmin gene mutation.

Kardiol Pol 2017 ;75(7):723

Department of Cardiomyopathy, Institute of Cardiology, Warsaw, Poland, Poland.

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http://dx.doi.org/10.5603/KP.2017.0129DOI Listing
January 2018

TRIM28 and Interacting KRAB-ZNFs Control Self-Renewal of Human Pluripotent Stem Cells through Epigenetic Repression of Pro-differentiation Genes.

Stem Cell Reports 2017 12 30;9(6):2065-2080. Epub 2017 Nov 30.

Laboratory for Gene Therapy, Department of Cancer Immunology, Poznan University of Medical Sciences, 60-806 Poznan, Poland; Laboratory for Gene Therapy, Department of Diagnostics and Cancer Immunology, Greater Poland Cancer Centre, 61-866 Poznan, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2017.10.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785758PMC
December 2017

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

J Appl Genet 2017 Nov 18;58(4):475-480. Epub 2017 Oct 18.

Department of Pediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-017-0414-5DOI Listing
November 2017

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

Adv Exp Med Biol 2017 ;980:59-66

Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland.

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http://dx.doi.org/10.1007/5584_2016_206DOI Listing
September 2017

Genetic Risk Factors for Autoimmune Thyroid Disease might Affect the Susceptibility to and Modulate the Progression of Primary Biliary Cholangitis.

J Gastrointestin Liver Dis 2017 Sep;26(3):245-252

Department of Medicine II, Saarland University Medical Center, Homburg, Germany; Laboratory of Metabolic Liver Diseases, Centre for Preclinical Research, Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.15403/jgld.2014.1121.263.kusDOI Listing
September 2017

Co-occurrence of Jalili syndrome and muscular overgrowth.

Am J Med Genet A 2017 Aug 6;173(8):2280-2283. Epub 2017 Jun 6.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/ajmg.a.38318DOI Listing
August 2017

Intra- and inter-population analysis of haplotype diversity in Yfiler Plus system using a wide set of representative data from Polish population.

Forensic Sci Int Genet 2017 05 27;28:e22-e25. Epub 2017 Jan 27.

Central Forensic Laboratory of the Police, Warsaw, Poland; Department of Forensic Medicine, Warsaw Medical University, Warsaw, Poland; Department of Forensic Medicine, Institute of Molecular and Forensic Genetics, Collegium Medicum of the Nicolaus Copernicus University, Bydgoszcz, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2017.01.014DOI Listing
May 2017