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Page 1
Genome-wide association study in patients with posterior urethral valves.
van der Zanden LFM, Maj C, Borisov O, van Rooij IALM, Quaedackers JSLT, Steffens M, Schierbaum L, Schneider S, Waffenschmidt L, Kiemeney LALM, de Wall LLL, Heilmann S, Hofmann A, Gehlen J, Schumacher J, Szczepanska M, Taranta-Janusz K, Kroll P, Krzemien G, Szmigielska A, Schreuder MF, Weber S, Zaniew M, Roeleveld N, Reutter H, Feitz WFJ, Hilger AC. van der Zanden LFM, et al. Among authors: szczepanska m. Front Pediatr. 2022 Sep 27;10:988374. doi: 10.3389/fped.2022.988374. eCollection 2022. Front Pediatr. 2022. PMID: 36238604 Free PMC article.
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
Sikora P, Zaniew M, Haisch L, Pulcer B, Szczepańska M, Moczulska A, Rogowska-Kalisz A, Bieniaś B, Tkaczyk M, Ostalska-Nowicka D, Zachwieja K, Hyla-Klekot L, Schlingmann KP, Konrad M. Sikora P, et al. Among authors: szczepanska m. Nephrol Dial Transplant. 2015 Apr;30(4):636-44. doi: 10.1093/ndt/gfu374. Epub 2014 Dec 3. Nephrol Dial Transplant. 2015. PMID: 25477417
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. Lopez-Rivera E, et al. Among authors: szczepanska m. N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25. N Engl J Med. 2017. PMID: 28121514 Free PMC article.
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. Verbitsky M, et al. Among authors: szczepanska m. Nat Genet. 2019 Jan;51(1):117-127. doi: 10.1038/s41588-018-0281-y. Epub 2018 Dec 21. Nat Genet. 2019. PMID: 30578417 Free PMC article.
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasa M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simoes-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. Verbitsky M, et al. Among authors: szczepanska m. Nat Genet. 2019 Apr;51(4):764. doi: 10.1038/s41588-019-0376-0. Nat Genet. 2019. PMID: 30816350
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepańska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC. Kolvenbach CM, et al. Among authors: szczepanska m. Am J Hum Genet. 2019 May 2;104(5):994-1006. doi: 10.1016/j.ajhg.2019.03.023. Am J Hum Genet. 2019. PMID: 31051115 Free PMC article.
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.
Verbitsky M, Krithivasan P, Batourina E, Khan A, Graham SE, Marasà M, Kim H, Lim TY, Weng PL, Sánchez-Rodríguez E, Mitrotti A, Ahram DF, Zanoni F, Fasel DA, Westland R, Sampson MG, Zhang JY, Bodria M, Kil BH, Shril S, Gesualdo L, Torri F, Scolari F, Izzi C, van Wijk JAE, Saraga M, Santoro D, Conti G, Barton DE, Dobson MG, Puri P, Furth SL, Warady BA, Pisani I, Fiaccadori E, Allegri L, Degl'Innocenti ML, Piaggio G, Alam S, Gigante M, Zaza G, Esposito P, Lin F, Simões-E-Silva AC, Brodkiewicz A, Drozdz D, Zachwieja K, Miklaszewska M, Szczepanska M, Adamczyk P, Tkaczyk M, Tomczyk D, Sikora P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Lozanovski VJ, Gucev Z, Ionita-Laza I, Stanaway IB, Crosslin DR, Wong CS, Hildebrandt F, Barasch J, Kenny EE, Loos RJF, Levy B, Ghiggeri GM, Hakonarson H, Latos-Bieleńska A, Materna-Kiryluk A, Darlow JM, Tasic V, Willer C, Kiryluk K, Sanna-Cherchi S, Mendelsohn CL, Gharavi AG. Verbitsky M, et al. Among authors: szczepanska m. J Am Soc Nephrol. 2021 Apr;32(4):805-820. doi: 10.1681/ASN.2020050681. Epub 2021 Feb 17. J Am Soc Nephrol. 2021. PMID: 33597122 Free PMC article.
Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited.
Kołbuc M, Bieniaś B, Habbig S, Kołek MF, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Motyka R, Tkaczyk M, Sikora P, Beck BB, Zaniew M. Kołbuc M, et al. Among authors: szczepanska m. J Clin Med. 2021 Jul 24;10(15):3265. doi: 10.3390/jcm10153265. J Clin Med. 2021. PMID: 34362049 Free PMC article.
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.
Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, Marasa M, Zhang JY, Balderes O, Sanna-Cherchi S, Bomback AS, Canetta PA, Appel GB, Radhakrishnan J, Trimarchi H, Sprangers B, Cattran DC, Reich H, Pei Y, Ravani P, Galesic K, Maixnerova D, Tesar V, Stengel B, Metzger M, Canaud G, Maillard N, Berthoux F, Berthelot L, Pillebout E, Monteiro R, Nelson R, Wyatt RJ, Smoyer W, Mahan J, Samhar AA, Hidalgo G, Quiroga A, Weng P, Sreedharan R, Selewski D, Davis K, Kallash M, Vasylyeva TL, Rheault M, Chishti A, Ranch D, Wenderfer SE, Samsonov D, Claes DJ, Akchurin O, Goumenos D, Stangou M, Nagy J, Kovacs T, Fiaccadori E, Amoroso A, Barlassina C, Cusi D, Del Vecchio L, Battaglia GG, Bodria M, Boer E, Bono L, Boscutti G, Caridi G, Lugani F, Ghiggeri G, Coppo R, Peruzzi L, Esposito V, Esposito C, Feriozzi S, Polci R, Frasca G, Galliani M, Garozzo M, Mitrotti A, Gesualdo L, Granata S, Zaza G, Londrino F, Magistroni R, Pisani I, Magnano A, Marcantoni C, Messa P, Mignani R, Pani A, Ponticelli C, Roccatello D, Salvadori M, Salvi E, Santoro D, Gembillo G, Savoldi S, Spotti D, Zamboli P, Izzi C, Alberici F, Delbarba E, Florczak M, Krata N, Mucha K, Pączek L, Niemczyk S, Mosz… See abstract for full author list ➔ Kiryluk K, et al. Among authors: szczepanska m. Nat Genet. 2023 Jul;55(7):1091-1105. doi: 10.1038/s41588-023-01422-x. Epub 2023 Jun 19. Nat Genet. 2023. PMID: 37337107
238 results