References
- 1. Devuyst O, Knoers NV, Remuzzi G, Schaefer F; Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association. Rare inherited kidney diseases: challenges, opportunities, and perspectives. Lancet. 2014;383(9931):1844-59.
- 2. Soliman NA. Orphan kidney diseases. Nephron Clin Pract. 2012;120(4):c194-9.
- 3. Popovska-Jankovic K1, Tasic V, Bogdanovic R, Miljkovic P, Golubovic E, Soylu A, Saraga M, Pavicevic S, Baskin E, Akil I, Gregoric A, Lilova M, Topaloglu R, Sukarova Stefanovska E, Plaseska-Karanfilska D. Molecular characterization of cystinuria in south-eastern European countries. Urolithiasis. 2013;41(1):21-30.
- 4. Tasic V, Hynes AM, Kitamura K, Cheong HI, Lozanovski VJ, Gucev Z, Jutabha P, Anzai N, Sayer JA. Clinical and functional characterization of URAT1 variants. PLoS One. 2011;6(12):e28641.
- 5. Bertholet-Thomas A, Berthiller J, Tasic V, Kassai B, Otukesh H, Greco M, Ehrich J, de Paula Bernardes R, Deschênes G, Hulton SA, Fischbach M, Soulami K, Saeed B, Valavi E, Cobenas CJ, Hacihamdioglu B, Weiler G, Cochat P, Bacchetta J. Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. BMC Nephrol. 2017;18(1):210.
- 6. Bertholet-Thomas A, Bacchetta J, Tasic V, Cochat P. Nephropathic cystinosis--a gap between developing and developed nations. N Engl J Med. 2014;370(14):1366-7
- 7. Wühl E, van Stralen KJ, Wanner C, Ariceta G, Heaf JG, Bjerre AK, Palsson R, Duneau G, Hoitsma AJ, Ravani P, Schaefer F, Jager KJ. Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry.Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv1-8
- 8. Ristoska Bojkovska N, Spahiu L, Janchevska A, Gucev ZS, Tasic V. Renal dysplasia in Bardet-Biedl syndrome. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(1):211-5.
- 9. Chen B, Altman RB. Opportunities for developing therapies for rare genetic diseases: focus on gainof-function and allostery. Orphanet J Rare Dis. 2017;12(1):61.10.1186/s13023-017-0614-4
- 10. Law V, Knox C, Djoumbou Y, Jewison T, Guo AC, Liu Y, Maciejewski A, Arndt D, Wilson M, Neveu V, et al. DrugBank 4.0: shedding new light on drug metabolism. Nucleic Acids Res. 2014;42(Database issue):D1091–1097
- 11. Hildebrandt F. Genetic kidney diseases. Lancet. 2010;375(9722):1287-95.
- 12. Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011;13(3):255-62.10.1097/GIM.0b013e3182088158
- 13. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009;106(45):19096-101.
- 14. Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F. Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. J Am Soc Nephrol. 2015;26(3):543-51
- 15. Vivante A, Hwang DY, Kohl S, Chen J, Shril S, Schulz J, van der Ven A, Daouk G, Soliman NA, Kumar AS, Senguttuvan P, Kehinde EO, Tasic V, Hildebrandt F. Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. J Am Soc Nephrol. 2017;28(1):69-7510.1681/ASN.2015080962
- 16. Tasic V, Lozanovski VJ, Danilovski D, Laban N, Pop-Jordanova N, Polenakovic M, Gucev ZS. Rare diseases with renal involvement in the Republic of Macedonia. Prilozi. 2011;32(1):55-67.
- 17. Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Kosuljandic Vukic D, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D’Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med. 2013;369(7):621-9
- 18. 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. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017;376(8):742-754
- 19. Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavaillès V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol. 2017 Apr 5. pii: ASN.2016060694
- 20. Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F. Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet. 2016; 98(6):1228-34.
- 21. Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Am J Hum Genet. 2015;97(2):291-301
- 22. Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. Hum Genet. 2015;134(8):905-16
- 23. Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2014;25(9):1917-2210.1681/ASN.2013101103
- 24. Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.Kidney Int. 2014;85(6):1310-7
- 25. Saisawat P1, Tasic V, Vega-Warner V, Kehinde EO, Günther B, Airik R, Innis JW, Hoskins BE, Hoefele J, Otto EA, Hildebrandt F. Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. Kidney Int. 2012;81(2):196-200.10.1038/ki.2011.315
- 26. Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet MP, Ferec C, Le Meur Y, Torres VE; Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.Am J Hum Genet. 2016;98(6):1193-207.
- 27. Gucev Z, Tasic V, Polenakovic M. 5th Rare Disease South Eastern Europe (SEE) Meeting, Skopje, Macedonia (November 15th, 2016). Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2017 Mar 1;38(1):119-123
- 28. Gucev Z, Tasic V, Polenakovic M. 4th Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14th, 2015).Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(3):151-6.
- 29. Polenakovic M, Gucev Z, Tasic V. Where are we now in the investigation of rare diseases in the Republic of Macedonia? Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):85-6. Review.
- 30. Gucev Z, Tasic V, Polenakovic M. The many faces of rare diseases (RD): meeting report on Rare Disease in South-Eastern Europe, 15-16 November 2013, Skopje, Republic of Macedonia. Pediatr Endocrinol Rev. 2014 Mar;11(3):337-8.