| Publikacja | Impact Factor |
|---|---|
| 2015 | |
| Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P, Szczałuba K, Lee HY, Quinn E, Ploski R, Kaminska A, Ptáček LJ.Andersen-Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement. Muscle Nerve. 2015 Feb;51(2):192-6. | 2,3 |
| Prochenka A, Pokarowski P, Gasperowicz P, Kosińska J, Stawiński P, Zbieć-Piekarska R, Spólnicka M, Branicki W, Płoski R. A cautionary note on using binary calls for analysis of DNA methylation.Bioinformatics. 2015 Feb 13. pii: btv090. [Epub ahead of print] | |
| Szpakowicz A, Kiliszek M, Pepiński W, Waszkiewicz E, Franaszczyk M, Skawrońska M, Dobrzycki S, Niemcunowicz-Janica A, Ploski R, Opolski G, Musiał WJ, Kamiński KA. The rs9982601 polymorphism of the region between the SLC5A3/MRPS6 and KCNE2 genes associated with a prevalence of myocardial infarction and subsequent long-term mortality.Pol Arch Med Wewn. 2015 Feb 20. pii: AOP_15_021. [Epub ahead of print] | |
| Nowak I, Płoski R, Barcz E, Dziunycz P, Kamiński P, Kostrzewa G, Milewski Ł, Roszkowski PI, Senitzer D, Malejczyk J, Kuśnierczyk P. KIR2DS5 in the presence of HLA-C C2 protects against endometriosis. Immunogenetics. 2015 Mar 1. | |
| Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-257. | 10,9 |
| Zbieć-Piekarska R, Spólnicka M, Kupiec T, Makowska Ż, Spas A, Parys-Proszek A, Kucharczyk K, Płoski R, Branicki W. Examination of DNA methylation status of the ELOVL2 marker may be useful for human age prediction in forensic science. Forensic Sci Int Genet. 2015 Jan;14:161-7. | 3,2 |
| 2014 | |
| Wójcicka A, Czetwertyńska M, Swierniak M, Długosińska J, Maciąg M, Czajka A, Dymecka K, Kubiak A, Kot A, Płoski R, de la Chapelle A, Jażdżewski K. Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma. Genes Chromosomes Cancer. 2014 Jun;53(6):516-23. | 3,8 |
| Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucińska-Więckowska A, Szymańska-Dębińska T, Fidziańska A, Więckowski MR, Jurkiewicz D, Ciara E, Jankowska I, Sykut-Cegielska J, Krajewska-Walasek M, Płoski R, Pronicka E. Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. Clin Genet. 2014 Jun;85(6):573-7. | 3,6 |
| Kostera-Pruszczyk A, Kosinska J, Pollak A, Stawinski P, Walczak A, Wasilewska K, Potulska-Chromik A, Szczudlik P, Kaminska A, Ploski R. Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2014 Sep;19(3):242-5. | 2,5 |
| Ploski R, Pollak A, Müller S, Franaszczyk M, Michalak E, Kosinska J, Stawinski P, Spiewak M, Seggewiss H, Bilinska ZT. Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy? Circ Res. 2014 Jan 17;114(2):e2-5. | 11,0 |
| Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M. Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B – the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies. Folia Neuropathol. 2014;52(4):452-6. | 1,6 |
| Ziarkiewicz-Wróblewska B, Sajjad E, Ciszek M, Hutnik L, Lukasik D, Fedorowicz M, Wróblewski T, Patkowski W, Pączek L, Płoski R, Włodarski P, Malejczyk J. Association of 49245A>G (rs868) Polymorphism in the 3’UTR of Donor TGFBR1 Gene with Course of Hepatitis C following Orthotopic Liver Transplantation. Ann Transplant. 2014 Dec 12;19:643-51. | 1,4 |
| Kalinska-Bienias A, Kostrzewa G, Malejczyk M, Ploski R, Majewski S. Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis. Clin Exp Dermatol. 2014 Dec 12. doi: 10.1111/ced.12506. | 1,2 |
| Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet. 2014 Nov 6;95(5):590-601. | 10,9 |
| Pazik J, Ołdak M, Lewandowski Z, Dąbrowski M, Podgórska M, Sitarek E, Malejczyk J, Płoski R, Durlik M. Recipient uridine 5′-diphospho-glucuronosyltransferase UGT1A9 c.98T>C variant determines transplanted kidney filtration rate. Transplant Proc. 2014 Oct;46(8):2678-82. | 0,9 |
| Ołdak M, Ruszkowska E, Pollak A, Sobczyk-Kopcioł A, Kowalewski C, Piwońska A, Drygas W, Płoski R. A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene. Eur J Pediatr. 2014 Nov 5. | 1,9 |
| Kuś A, Szymański K, Peeters RP, Miśkiewicz P, Porcu E, Pistis G, Sanna S, Naitza S, Płoski R, Medici M, Bednarczuk T. The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves’ disease. Clin Endocrinol (Oxf). 2014 Oct 24. | 3,3 |
| Chojnicka I, Fudalej S, Walczak A, Wasilewska K, Fudalej M, Stawiński P, Strawa K, Pawlak A, Wojnar M, Krajewski P, Płoski R. Inverse association between obesity predisposing FTO genotype and completed suicide. PLoS One. 2014 Sep 29;9(9):e108900. | 3,5 |
| Bukowska-Ośko I, Caraballo Cortés K, Pawełczyk A, Płoski R, Fic M, Perlejewski K, Demkow U, Berak H, Horban A, Laskus T, Radkowski M. Analysis of genotype 1b hepatitis C virus IRES in serum and peripheral blood mononuclear cells in patients treated with interferon and ribavirin. Biomed Res Int. 2014;2014:175405. | |
| Nehring P, Mrozikiewicz-Rakowska B, Krzyżewska M, Sobczyk-Kopcioł A, Płoski R, Broda G, Karnafel W. Diabetic foot risk factors in type 2 diabetes patients: a cross-sectional case control study. J Diabetes Metab Disord. 2014 Aug 4;13:79. | 6,3 |
| Szpakowicz A, Kiliszek M, Pepinski W, Waszkiewicz E, Franaszczyk M, Skawronska M, Ploski R, Niemcunowicz-Janica A, Dobrzycki S, Opolski G, Musial WJ, Kaminski KA. Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction. PLoS One. 2014 Aug 8;9(8):e104635. | 3,5 |
| Pamjav H, Volgyi A, Barany G, Pawlowski R, Maciejewska A, Pelotti S, Pepinski W, Abreu-Glowacka M, Phillips C, Cárdenas J, Rey-Gonzalez D, Salas A, Brisighelli F, Capelli C, Toscanini U, Piccinini A, Piglionica M, Baldassarra SL, Ploski R, Konarzewska M, Jastrzebska E, Robino C, Sajantila A, Palo JU, Guevara E, Salvador J, Ungria MC, Rodriguez JJ, Schmidt U, Schlauderer N, Saukko P, Schneider PM, Sirker M, Shin KJ, Oh YN, Skitsa I, Ampati A, Smith TG, Calvit LS, Stenzl V, Capal T, Tillmar A, Nilsson H, Turrina S, De Leo D, Verzeletti A, Cortellini V, Wetton JH, Gwynne GM, Jobling MA, Whittle MR, Sumita DR, Wolańska-Nowak P, Yong RY, Krawczak M, Nothnagel M, Roewer L. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Forensic Sci Int Genet. 2014 Sep;12:12-23. | 3,2 |
| Jurecka-Lubieniecka B, Ploski R, Kula D, Szymanski K, Bednarczuk T, Ambroziak U, Hasse-Lazar K, Hyla-Klekot L, Tukiendorf A, Kolosza Z, Jarzab B. Association between polymorphisms in the TSHR gene and Graves’ orbitopathy. PLoS One. 2014 Jul 25;9(7):e102653. | 3,5 |
| Ołdak M, Ścieżyńska A, Młynarski W, Borowiec M, Ruszkowska E, Szulborski K, Pollak A, Kosińska J, Mueller-Malesińska M, Stawiński P, Szaflik JP, Płoski R. Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome. Hum Mutat. 2014 Oct;35(10):1171-4. | 5,1 |
| Cortés KC, Zagordi O, Perlejewski K, Laskus T, Maroszek K, Bukowska-Ośko I, Pawełczyk A, Płoski R, Berak H, Horban A, Radkowski M. Deep sequencing of hepatitis C virus hypervariable region 1 reveals no correlation between genetic heterogeneity and antiviral treatment outcome. BMC Infect Dis. 2014 Jul 13;14:389. doi: 10.1186/1471-2334-14-389. | 2,5 |
| Franaszczyk M, Bilinska ZT, Sobieszczańska-Małek M, Michalak E, Sleszycka J, Sioma A, Małek ŁA, Kaczmarska D, Walczak E, Włodarski P, Hutnik Ł, Milanowska B, Dzielinska Z, Religa G, Grzybowski J, Zieliński T, Ploski R. The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation. J Transl Med. 2014 Jul 9;12:192. | 3,9 |
| Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balažic J, Ballantyne J, Ballard DJ, Berger B, Bobillo C, Bouabdellah M, Burri H, Capal T, Caratti S, Cárdenas J, Cartault F, Carvalho EF, Carvalho M, Cheng B, Coble MD, Comas D, Corach D, D’Amato ME, Davison S, de Knijff P, De Ungria MC, Decorte R, Dobosz T, Dupuy BM, Elmrghni S, Gliwiński M, Gomes SC, Grol L, Haas C, Hanson E, Henke J, Henke L, Herrera-Rodríguez F, Hill CR, Holmlund G, Honda K, Immel UD, Inokuchi S, Jobling MA, Kaddura M, Kim JS, Kim SH, Kim W, King TE, Klausriegler E, Kling D, Kovačević L, Kovatsi L, Krajewski P, Kravchenko S, Larmuseau MH, Lee EY, Lessig R, Livshits LA, Marjanović D, Minarik M, Mizuno N, Moreira H, Morling N, Mukherjee M, Munier P, Nagaraju J, Neuhuber F, Nie S, Nilasitsataporn P, Nishi T, Oh HH, Olofsson J, Onofri V, Palo JU, Pamjav H, Parson W, Petlach M, Phillips C, Ploski R, Prasad SP, Primorac D, Purnomo GA, Purps J, Rangel-Villalobos H, Rębała K, Rerkamnuaychoke B, Gonzalez DR, Robino C, Roewer L, Rosa A, Sajantila A, Sala A, Salvador JM, Sanz P, Schmitt C, Sharma AK, Silva DA, Shin KJ, Sijen T, Sirker M, Siváková D, Skaro V, Solano-Matamoros C, Souto L, Stenzl V, Sudoyo H, Syndercombe-Court D, Tagliabracci A, Taylor D, Tillmar A, Tsybovsky IS, Tyler-Smith C, van der Gaag KJ, Vanek D, Völgyi A, Ward D, Willemse P, Yap EP, Yong RY, Pajnič IZ, Kayser M. Toward male individualization with rapidly mutating y-chromosomal short tandem repeats. Hum Mutat. 2014 Aug;35(8):1021-32. | 5,1 |
| Purps J, Siegert S, Willuweit S, Nagy M, Alves C, Salazar R, Angustia SM, Santos LH, Anslinger K, Bayer B, Ayub Q, Wei W, Xue Y, Tyler-Smith C, Bafalluy MB, Martínez-Jarreta B, Egyed B, Balitzki B, Tschumi S, Ballard D, Court DS, Barrantes X, Bäßler G, Wiest T, Berger B, Niederstätter H, Parson W, Davis C, Budowle B, Burri H, Borer U, Koller C, Carvalho EF, Domingues PM, Chamoun WT, Coble MD, Hill CR, Corach D, Caputo M, D’Amato ME, Davison S, Decorte R, Larmuseau MH, Ottoni C, Rickards O, Lu D, Jiang C, Dobosz T, Jonkisz A, Frank WE, Furac I, Gehrig C, Castella V, Grskovic B, Haas C, Wobst J, Hadzic G, Drobnic K, Honda K, Hou Y, Zhou D, Li Y, Hu S, Chen S, Immel UD, Lessig R, Jakovski Z, Ilievska T, Klann AE, García CC, de Knijff P, Kraaijenbrink T, Kondili A, Miniati P, Vouropoulou M, Kovacevic L, Marjanovic D, Lindner I, Mansour I, Al-Azem M, Andari AE, Marino M, Furfuro S, Locarno L, Martín P, Luque GM, Alonso A, Miranda LS, Moreira H, Mizuno N, Iwashima Y, Neto RS, Nogueira TL, Silva R, Nastainczyk-Wulf M, Edelmann J, Kohl M, Nie S, Wang X, Cheng B, Núñez C, Pancorbo MM, Olofsson JK, Morling N, Onofri V, Tagliabracci A, Tesson F, Saj M, Uvaize MM, Nicolas H, Płoski R, Bilińska Z. Lamin A/C mutations in dilated cardiomyopathy. Cardiol J. 2014;21(4):331-42. | 1,2 |
| Strawa K, Markowska A, Miśkiewicz P, Kuś A, Ambroziak U, Szymański K, Zbiec R, Spólnicka M, Krajewski P, Bednarczuk T, Płoski R. Increased concentration of T-cell receptor rearrangement excision circles (TREC) in peripheral blood in Graves’ disease. Clin Endocrinol (Oxf). 2014 Nov;81(5):769-74. | 3,3 |
| Soltyszewski I, Pepinski W, Wolanska-Nowak P, Maciejewska A, Paszkowska R, Abreu-Glowacka M, Achrem W, Jonkisz A, Lebioda A, Konarzewska M, Ploski R. Polish population data on 15 autosomal STRs of AmpFlSTR NGM PCR kit. Forensic Sci Int Genet. 2014 Mar;9:142-9. | 3,2 |
| Ołdak M, Szaflik JP, Ścieżyńska A, Udziela M, Maksym RB, Rymgayłło-Jankowska B, Hofmann-Rummelt C, Menzel-Severing J, Płoski R, Żarnowski T, Kruse FE, Szaflik J. Late-onset lattice corneal dystrophy without typical lattice l ines caused by a novel mutation in the TGFBI gene. Cornea. 2014 Mar;33(3):294-9. | 2,3 |
| Szymański K, Miśkiewicz P, Pirko K, Jurecka-Lubieniecka B, Kula D, Hasse-Lazar K, Krajewski P, Bednarczuk T, Płoski R. rs3827440, a nonsynonymous single nucleotide polymorphism within GPR174 gene in X chromosome, is associated with Graves’ disease in Polish Caucasian population. Tissue Antigens. 2014 Jan;83(1):41-4. | 2,3 |
| Nehring P, Mrozikiewicz-Rakowska B, Maroszek P, Sobczyk-Kopcioł A, Krzyżewska M, Płoski R, Karnafel W. Risk factors of charcot neuroarthropathy development in patients with type 2 diabetes. Exp Clin Endocrinol Diabetes. 2014 Jan;122(1):31-4. | 1,7 |
| 2013 | |
| Saracyn M, Płoski R, Niemczyk S. Contemporary role of medical genetics in internal medicine. Arch Med Sci. 2013 Aug 30;9(4):594-600. | 1,8 |
| Kostrzewa G, Broda G, Konarzewska M, Krajewki P, Płoski R. Genetic polymorphism of human Y chromosome and risk factors for cardiovascular diseases: a study in WOBASZ cohort. PLoS One. 2013 Jul 25;8(7):e68155. | 3,5 |
| Jóźwiak J, Sontowska I, Płoski R. Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations. Mol Med Rep. 2013 Sep;8(3):909-13. | 1,4 |
| Niepiekło-Miniewska W, Majorczyk E, Matusiak L, Gendzekhadze K, Nowak I, Narbutt J, Lesiak A, Kuna P, Ponińska J, Pietkiewicz-Sworowska A, Samoliński B, Płoski R, Szepietowski JC, Senitzer D, Kuśnierczyk P. Protective effect of the KIR2DS1 gene in atopic dermatitis. Gene. 2013 Sep 25;527(2):594-600. | 2,0 |
| Ołdak M, Przybylska D, Kosińska J, Federowicz A, Woźniak K, Płoski R, Kowalewski C. Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex. Eur J Dermatol. 2013 May-Jun;23(3):404-6. | 1,9 |
| Pazik J, Ołdak M, Lewandowski Z, Podgórska M, Sitarek E, Płoski R, Gałazka Z, Kwiatkowski A, Malejczyk J, Durlik M. Uridine diphosphate glucuronosyltransferase 2B7 variant p.His268Tyr as a predictor of kidney allograft early acute rejection. Transplant Proc. 2013 May;45(4):1516-9. | 0,9 |
| Caraballo Cortés K, Zagordi O, Laskus T, Płoski R, Bukowska-Ośko I, Pawełczyk A, Berak H, Radkowski M. Ultradeep pyrosequencing of hepatitis C virus hypervariable region 1 in quasispecies analysis. Biomed Res Int. 2013;2013:626083. | |
| Saj M, Bilinska ZT, Tarnowska A, Sioma A, Bolongo P, Sobieszczanska-Malek M, Michalak E, Golen D, Mazurkiewicz L, Malek L, Walczak E, Fidzianska A, Grzybowski J, Przybylski A, Zielinski T, Korewicki J, Tesson F, Ploski R. LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies. BMC Med Genet. 2013 May 23;14:55. | 2,5 |
| Jurecka-Lubieniecka B, Ploski R, Kula D, Krol A, Bednarczuk T, Kolosza Z, Tukiendorf A, Szpak-Ulczok S, Stanjek-Cichoracka A, Polanska J, Jarzab B. Association between age at diagnosis of Graves’ disease and variants in genes involved in immune response.PLoS One. 2013;8(3):e59349. | 3,5 |
| Chojnicka I, Gajos K, Strawa K, Broda G, Fudalej S, Fudalej M, Stawiński P, Pawlak A, Krajewski P, Wojnar M, Płoski R. Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene.PLoS One. 2013;8(2):e57199. | 3,5 |
| Nehring P, Mrozikiewicz-Rakowska B, Sobczyk-Kopcioł A, Makowski A, Krasnodębski P, Płoski R, Broda G, Karnafel W. Osteoprotegerin gene rs2073617 and rs3134069 polymorphisms in type 2 diabetes patients and sex‑specific rs2073618 polymorphism as a risk factor for diabetic foot.Pol Arch Med Wewn. 2013;123(4):176-82. | |
| Szczepańska M, Mostowska A, Wirstlein P, Malejczyk J, Płoski R, Skrzypczak J, Jagodziński PP.Polymorphic variants of DNMT3A and the risk of endometriosis.Eur J Obstet Gynecol Reprod Biol. 2013 Jan;166(1):81-5. | 1,6 |
| Machnicki MM, Glodkowska-Mrowka E, Lewandowski T, Ploski R, Wlodarski P, Stoklosa T. ARMS-PCR for detection of BRAF V600E hotspot mutation in comparison with Real-Time PCR-based techniques.Acta Biochim Pol. 2013;60(1):57-64. | 1,3 |
| 2012 | |
| Iwanicka-Pronicka K, Pollak A, Skórka A, Lechowicz U, Pajdowska M, Furmanek M, Rzeski M, Korniszewski L, Skarżyński H, Płoski R. Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype. PLoS One. 2012;7(10):e44054. | 3,7 |
| Nowak I, Magott-Procelewska M, Kowal A, Miazga M, Wagner M, Niepiekło-Miniewska W, Kamińska M, Wiśniewski A, Majorczyk E, Klinger M, Łuszczek W, Pawlik A, Płoski R, Barcz E, Senitzer D, Kuśnierczyk P. Killer immunoglobulin-like receptor (KIR) and HLA genotypes affect the outcome of allogeneic kidney transplantation. PLoS One. 2012;7(9):e44718. | 3,7 |
| Chojnicka I, Sobczyk-Kopcioł A, Fudalej M, Fudalej S, Wojnar M, Waśkiewicz A, Broda G, Strawa K, Pawlak A, Krajewski P, Płoski R. No association between MTHFR C677T polymorphism and completed suicide. Gene. 2012 Dec 10;511(1):118-21. | 2,1 |