Publications by authors named "Rafal Ploski"

100Publications

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.

Front Pediatr 2020 24;8:414. Epub 2020 Jul 24.

Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.3389/fped.2020.00414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393978PMC
July 2020

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Mol Genet Genomic Med 2020 Jul 24:e1432. Epub 2020 Jul 24.

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

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http://dx.doi.org/10.1002/mgg3.1432DOI Listing
July 2020

A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the Gene.

Diagnostics (Basel) 2020 Jun 27;10(7). Epub 2020 Jun 27.

Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland.

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http://dx.doi.org/10.3390/diagnostics10070435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7399804PMC
June 2020

Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers.

Hum Mutat 2020 Sep 11;41(9):1680-1696. Epub 2020 Jul 11.

Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.24068DOI Listing
September 2020

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.

Acta Biochim Pol 2020 May;67(2):225-228

Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.18388/abp.2020_5202DOI Listing
May 2020

Intrafamilial variability of cardiovascular abnormalities associated with the p.R460H mutation of the TGFBR2 gene.

Pol Arch Intern Med 2020 08 18;130(7-8):676-678. Epub 2020 May 18.

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

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http://dx.doi.org/10.20452/pamw.15365DOI Listing
August 2020

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway.

Int J Pediatr Otorhinolaryngol 2020 Jul 13;134:110038. Epub 2020 Apr 13.

Department of Pediatrics, Division Propaedeutic of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland.

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http://dx.doi.org/10.1016/j.ijporl.2020.110038DOI Listing
July 2020

Acute liver failure due to DGUOK deficiency-is liver transplantation justified?

Clin Res Hepatol Gastroenterol 2020 Apr 8. Epub 2020 Apr 8.

Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.clinre.2020.02.018DOI Listing
April 2020

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

J Appl Genet 2020 Feb 18;61(1):87-91. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968987PMC
February 2020

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

Ann Noninvasive Electrocardiol 2020 07 14;25(4):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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358827PMC
July 2020

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

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

Clin Genet 2019 11 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

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

Clin Genet 2019 09 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

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

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

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

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

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

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 04 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

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 04 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

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

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

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

Parkinsonism Relat Disord 2019 05 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

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

Ann Noninvasive Electrocardiol 2019 05 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6931863PMC
May 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 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

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

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

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