Publications List

This is a partial publication list by Prof. Vivante. For the complete list, click here.

1. Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure.

Chowers G, Ben-Ruby D, Atias-Varon D, Shlomovitz O, Slabodnik-Kaner K, Kagan M, Avayou S, Romanjuk E, Rogachev B, Haviv YS, Birk OS, Hadar N, Bathish Y, Barshack I, Volkov A, Avivi C, Pavlovsky A, Haskin O, Simon AJ, Glick-Saar E, Ostrovsky A, Assi M, Schreiber R, Levin D, Yagil Y, Awawdeh M, Skorecki K, Dominissini D, Shnaider A, Vivante A.

Kidney Int Rep. 2025 Jan 20;10(4):1274-1278. doi: 10.1016/j.ekir.2025.01.019. eCollection 2025 Apr.

PMID: 40303201 Free PMC article. No abstract available.

2. Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

Ben-Ruby D, Atias-Varon D, Kagan M, Chowers G, Shlomovitz O, Slabodnik-Kaner K, Mano N, Avayou S, Atsmony Y, Levin D, Dotan E, Calderon-Margalit R, Shnaider A, Haviv YS, Birk OS, Hadar N, Anikster Y, Berar Yanay N, Chernin G, Kruzel-Davila E, Beckerman P, Rozen-Zvi B, Doctor GT, Stanescu HC, Shemer R, Pras E, Reznik-Wolf H, Nahum AH, Dominissini D, Skorecki K, Vivante A.

Clin Kidney J. 2024 Dec 6;18(2):sfae397. doi: 10.1093/ckj/sfae397. eCollection 2025 Feb.

PMID: 39927257 Free PMC article.

3. Genetics of Chronic Kidney Disease.

Vivante A.

N Engl J Med. 2024 Aug 15;391(7):627-639. doi: 10.1056/NEJMra2308577.

PMID: 39141855 Review. No abstract available.

4. Adolescent Body Mass Index and Early Chronic Kidney Disease in Young Adulthood.

Tsur AM, Akavian I, Landau R, Derazne E, Tzur D, Vivante A, Grossman E, Rotem RS, Fishman B, Pinhas-Hamiel O, Afek A, Coresh J, Chodick G, Twig G.

JAMA Pediatr. 2024 Feb 1;178(2):142-150. doi: 10.1001/jamapediatrics.2023.5420.

PMID: 38079159 Free PMC article.

5. Case 36-2023: A 19-Year-Old Man with Diabetes and Kidney Cysts.

Vivante A, Tan W, Harrington SG, Udler MS, Pollin TI.

N Engl J Med. 2023 Nov 23;389(21):1993-2003. doi: 10.1056/NEJMcpc2309347.

PMID: 37991859 No abstract available.

6. Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.

Ben-Moshe Y, Shlomovitz O, Atias-Varon D, Haskin O, Ben-Shalom E, Shasha Lavsky H, Volovelsky O, Mane S, Ben-Ruby D, Chowers G, Skorecki K, Borovitz Y, Kagan M, Mor N, Khavkin Y, Tzvi-Behr S, Pollack S, Toder MP, Geylis M, Schnapp A, Becker-Cohen R, Weissman I, Schreiber R, Davidovits M, Frishberg Y, Magen D, Barel O, Vivante A.

Kidney Int Rep. 2023 Jul 31;8(10):2126-2135. doi: 10.1016/j.ekir.2023.07.019. eCollection 2023 Oct.

PMID: 37850020 Free PMC article.

7. Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.

Shlomovitz O, Atias-Varon D, Yagel D, Barel O, Shasha-Lavsky H, Skorecki K, Eliyahu A, Bathish Y, Frajewicki V, Kushnir D, Zaid R, Paperna T, Ofir A, Tchirkov M, Hassan K, Kruzel E, Khazim K, Geron R, Weisman I, Hanut A, Nakhoul F, Kenig-Kozlovsky Y, Refael G, Antebi A, Storch S, Leiba M, Kagan M, Shukrun R, Rechavi G, Dekel B, Ben Moshe Y, Weiss K, Assady S, Vivante A.

Am J Kidney Dis. 2024 Feb;83(2):183-195. doi: 10.1053/j.ajkd.2023.06.006. Epub 2023 Sep 15.

PMID: 37717846

8. Dialysis in Israeli Children between 1990 and 2020: Trends and International Comparisons.

Regev-Epstein LC, Frishberg Y, Davidovits M, Landau D, Magen D, Weismann I, Stern-Zimmer M, Beckerman P, Keinan-Boker L, Calderon-Margalit R, Vivante A.

Clin J Am Soc Nephrol. 2023 Mar 1;18(3):363-373. doi: 10.2215/CJN.0000000000000063. Epub 2023 Jan 20.

PMID: 36722361 Free PMC article.

9. Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.

Kagan M, Semo-Oz R, Ben Moshe Y, Atias-Varon D, Tirosh I, Stern-Zimmer M, Eliyahu A, Raas-Rothschild A, Bivas M, Shlomovitz O, Chorin O, Rock R, Tzadok M, Ben-Zeev B, Heimer G, Bolkier Y, Gruber N, Dagan A, Bar Aluma BE, Pessach IM, Rechavi G, Barel O, Pode-Shakked B, Anikster Y, Vivante A.

Front Genet. 2023 Jan 9;13:1018062. doi: 10.3389/fgene.2022.1018062. eCollection 2022.

PMID: 36699461 Free PMC article.

10. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.

Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton DM, Seltzsam S, Mann N, Majmundar AJ, Wu CW, Onuchic-Whitford AC, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia MR, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton RP, Kirschner KM, Kispert A, Rosenberger G, Fischer KD, Lienkamp SS, Zegers MMP, Hildebrandt F.

J Am Soc Nephrol. 2023 Feb 1;34(2):273-290. doi: 10.1681/ASN.2022010050. Epub 2023 Nov 22.

PMID: 36414417 Free PMC article.

11. HOXA11 is another monogenic cause of congenital anomalies of the kidney and urinary tract-Reply.

Kagan M, Pleniceanu O, Vivante A.

Pediatr Nephrol. 2023 Mar;38(3):935. doi: 10.1007/s00467-022-05814-9. Epub 2022 Nov 19.

PMID: 36401625 No abstract available.

12. Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, Irons ZH, Craig SB, Koenig J, George S, Pode-Shakked B, Bolkier Y, Barel O, Mane S, Frederiksen KK, Wenger O, Scott E, Cross HE, Lorentzen E, Norris DP, Anikster Y, Omran H, Grimes DT, Crosby AH, Baple EL.

Genet Med. 2022 Nov;24(11):2249-2261. doi: 10.1016/j.gim.2022.07.019. Epub 2022 Sep 8.

PMID: 36074124 Free PMC article.

13. Poststreptococcal Myalgia and Protracted Febrile Myalgia Syndrome: Similar Yet Different.

Shlomovitz O, Spielman S, Oz RS, Gerstein M, Eshed I, Vivante A, Tirosh I.

J Pediatr. 2022 Aug;247:163-167.e2. doi: 10.1016/j.jpeds.2022.02.057. Epub 2022 May 17.

PMID: 35588798

14. Adolescent Blood Pressure and the Risk for Early Kidney Damage in Young Adulthood.

Tsur AM, Akavian I, Derazne E, Tzur D, Vivante A, Grossman E, Rotem RS, Fishman B, Afek A, Coresh J, Chodick G, Twig G.

Hypertension. 2022 May;79(5):974-983. doi: 10.1161/HYPERTENSIONAHA.121.18748. Epub 2022 Mar 7.

PMID: 35253445

15. Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.

Chowers G, Abebe-Campino G, Golan H, Vivante A, Greenberger S, Soudack M, Barkai G, Fox-Fisher I, Li D, March M, Battig MR, Hakonarson H, Adams D, Dori Y, Dagan A.

Pediatr Res. 2023 Dec;94(6):1911-1915. doi: 10.1038/s41390-022-01986-0. Epub 2022 Mar 4.

PMID: 35246606 Free PMC article.

16. The genetic basis of congenital anomalies of the kidney and urinary tract.

Kagan M, Pleniceanu O, Vivante A.

Pediatr Nephrol. 2022 Oct;37(10):2231-2243. doi: 10.1007/s00467-021-05420-1. Epub 2022 Feb 4.

PMID: 35122119 Review.

17. A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Pode-Shakked B, Ben-Moshe Y, Barel O, Regev LC, Kagan M, Eliyahu A, Marek-Yagel D, Atias-Varon D, Lahav E, Issler N, Shlomovitz O, Semo Oz R, Kol N, Mor N, Bar-Joseph I, Khavkin Y, Javasky E, Beckerman P, Greenberg M, Volovelsky O, Borovitz Y, Davidovits M, Haskin O, Alfandary H, Levi S, Kaidar M, Katzir Z, Angel-Korman A, Becker-Cohen R, Ben-Shalom E, Leiba A, Mor E, Dagan A, Pessach IM, Lotan D, Shashar M, Anikster Y, Raas-Rothschild A, Rechavi G, Dekel B, Vivante A.

Pediatr Nephrol. 2022 Jul;37(7):1623-1646. doi: 10.1007/s00467-021-05374-4. Epub 2022 Jan 7.

PMID: 34993602

18. [THE GENETIC BASIS OF CHRONIC KIDNEY DISEASE IN CHILDREN AND YOUNG ADULTS].

Kagan M, Eliyahu A, Ben Moshe Y, Vivante A.

Harefuah. 2021 Dec;160(12):839-846.

PMID: 34957723 Review. Hebrew.

19. Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.

Chorin O, Chowers G, Agbariah R, Karklinsky S, Barel O, Bar-Joseph I, Reznik-Wolf H, Shamash J, Pode-Shakked B, Jacobson JM, Huna-Baron R, Redler Y, Tirosh I, Vivante A, Raas-Rothschild A.

Eur J Med Genet. 2022 Jan;65(1):104383. doi: 10.1016/j.ejmg.2021.104383. Epub 2021 Nov 16.

PMID: 34798323

20. Small Vessel Vasculitis of the Central Nervous System: A Rare Disease with a Challenging Diagnosis.

Yahal O, Halavy Y, Vivante A, Gruber N, Tirosh I, Bar-Yosef O.

Isr Med Assoc J. 2021 Oct;23(10):672-673.

PMID: 34672453 No abstract available

21. Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.

Merdler-Rabinowicz R, Pode-Shakked B, Vivante A, Lahav E, Kagan M, Chorin O, Somech R, Raas-Rothschild A.

Pediatr Nephrol. 2021 Dec;36(12):4009-4012. doi: 10.1007/s00467-021-05216-3. Epub 2021 Sep 27.

PMID: 34570271

22. Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B.

J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2.

PMID: 34215651

23. Congenital Anomalies of the Kidney and Urinary Tract and Adulthood risk of Urinary Tract Cancer.

Calderon-Margalit R, Efron G, Pleniceanu O, Tzur D, Stern-Zimmer M, Afek A, Erlich T, Derazne E, Kark JD, Keinan-Boker L, Twig G, Vivante A.

Kidney Int Rep. 2021 Jan 10;6(4):946-952. doi: 10.1016/j.ekir.2021.01.003. eCollection 2021 Apr.

PMID: 33912744 Free PMC article.

24. TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys.

Stern E, Vivante A, Barel O, Levy-Shraga Y.

J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):227-232. doi: 10.4274/jcrpe.galenos.2020.2020.0265. Epub 2021 Jan 15.

PMID: 33448213 Free PMC article.

25. Childhood Cancer and the Risk of ESKD.

Calderon-Margalit R, Pleniceanu O, Tzur D, Stern-Zimmer M, Afek A, Erlich T, Verhovsky G, Keinan-Boker L, Skorecki K, Twig G, Vivante A.

J Am Soc Nephrol. 2021 Feb;32(2):495-501. doi: 10.1681/ASN.2020071002. Epub 2020 Nov 12.

PMID: 33184124 Free PMC article.

26. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F.

Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4.

PMID: 32891193 Free PMC article.

27. Acute pyelonephritis in children and the risk of end-stage kidney disease.

Pleniceanu O, Twig G, Tzur D, Sherman G, Afek A, Erlich T, Keinan-Boker L, Skorecki K, Vivante A, Calderon-Margalit R.

J Nephrol. 2021 Oct;34(5):1757-1765. doi: 10.1007/s40620-020-00841-x. Epub 2020 Sep 1.

PMID: 32875542

28. Potential Antigenic Cross-reactivity Between Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) and Dengue Viruses.

Lustig Y, Keler S, Kolodny R, Ben-Tal N, Atias-Varon D, Shlush E, Gerlic M, Munitz A, Doolman R, Asraf K, Shlush LI, Vivante A.

Clin Infect Dis. 2021 Oct 5;73(7):e2444-e2449. doi: 10.1093/cid/ciaa1207.

PMID: 32797228 Free PMC article.

29. Kidney failure risk in type 1 vs. type 2 childhood-onset diabetes mellitus.

Pleniceanu O, Twig G, Tzur D, Gruber N, Stern-Zimmer M, Afek A, Erlich T, Keinan-Boker L, Skorecki K, Calderon-Margalit R, Vivante A.

Pediatr Nephrol. 2021 Feb;36(2):333-340. doi: 10.1007/s00467-020-04631-2. Epub 2020 Aug 6.

PMID: 32761484

30. Childhood risk factors for adulthood chronic kidney disease.

Stern-Zimmer M, Calderon-Margalit R, Skorecki K, Vivante A.

Pediatr Nephrol. 2021 Jun;36(6):1387-1396. doi: 10.1007/s00467-020-04611-6. Epub 2020 Jun 4.

PMID: 32500249 Review.

31. Clues and challenges in the diagnosis of intermittent maple syrup urine disease.

Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K, Abraham S, Shaag A, Ulanovsky I, Daas S, Saraf-Levy T, Reznik-Wolf H, Vivante A, Pras E, Almashanu S, Anikster Y.

Eur J Med Genet. 2020 Jun;63(6):103901. doi: 10.1016/j.ejmg.2020.103901. Epub 2020 Mar 6.

PMID: 32151765

32. Impact of Immigration on Body Mass Index and Blood Pressure Among Adolescent Males and Females: A Nationwide Study.

Hamiel U, Pinhas-Hamiel O, Vivante A, Bendor C, Bardugo A, Afek A, Beer Z, Derazne E, Tzur D, Behar D, Itzhak A, Skorecki K, Tirosh A, Grossman E, Twig G.

Hypertension. 2019 Dec;74(6):1316-1323. doi: 10.1161/HYPERTENSIONAHA.119.13706. Epub 2019 Oct 21.

PMID: 31630574

33. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.

Staretz-Chacham O, Shukrun R, Barel O, Pode-Shakked B, Pleniceanu O, Anikster Y, Shalva N, Ferreira CR, Ben-Haim Kadosh A, Richardson J, Mane SM, Hildebrandt F, Vivante A.

Am J Med Genet A. 2019 Oct;179(10):2112-2118. doi: 10.1002/ajmg.a.61334. Epub 2019 Aug 24.

PMID: 31444901 Free PMC article.

34. Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Tirosh I, Spielman S, Barel O, Ram R, Stauber T, Paret G, Rubinsthein M, Pessach IM, Gerstein M, Anikster Y, Shukrun R, Dagan A, Adler K, Pode-Shakked B, Volkov A, Perelman M, Greenberger S, Somech R, Lahav E, Majmundar AJ, Padeh S, Hildebrandt F, Vivante A.

Pediatr Rheumatol Online J. 2019 Jul 30;17(1):52. doi: 10.1186/s12969-019-0349-y.

PMID: 31362757 Free PMC article.

35. Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, Koneth I, Schiffer M, Anikster Y, Hildebrandt F.

Pediatr Nephrol. 2019 Sep;34(9):1607-1613. doi: 10.1007/s00467-019-04256-0. Epub 2019 Apr 17.

PMID: 31001663 Free PMC article.

36. Introducing routine genetic testing for patients with CKD.

Vivante A, Skorecki K.

Nat Rev Nephrol. 2019 Jun;15(6):321-322. doi: 10.1038/s41581-019-0140-9.

PMID: 30903026 No abstract available.

37. Monogenic causes of chronic kidney disease in adults.

Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante A, Braun DA, Schneider R, Kitzler TM, Moloney B, Moran CP, Smyth JS, Kennedy A, Benson K, Stapleton C, Denton M, Magee C, O'Seaghdha CM, Plant WD, Griffin MD, Awan A, Sweeney C, Mane SM, Lifton RP, Griffin B, Leavey S, Casserly L, de Freitas DG, Holian J, Dorman A, Doyle B, Lavin PJ, Little MA, Conlon PJ, Hildebrandt F.

Kidney Int. 2019 Apr;95(4):914-928. doi: 10.1016/j.kint.2018.10.031. Epub 2019 Feb 14.

PMID: 30773290 Free PMC article.

38. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Mann N, Braun DA, Amann K, Tan W, Shril S, Connaughton DM, Nakayama M, Schneider R, Kitzler TM, van der Ven AT, Chen J, Ityel H, Vivante A, Majmundar AJ, Daga A, Warejko JK, Lovric S, Ashraf S, Jobst-Schwan T, Widmeier E, Hugo H, Mane SM, Spaneas L, Somers MJG, Ferguson MA, Traum AZ, Stein DR, Baum MA, Daouk GH, Lifton RP, Manzi S, Vakili K, Kim HB, Rodig NM, Hildebrandt F.

J Am Soc Nephrol. 2019 Feb;30(2):201-215. doi: 10.1681/ASN.2018060575. Epub 2019 Jan 17.

PMID: 30655312 Free PMC article.

39. 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.

Nat Genet. 2019 Jan;51(1):117-127. doi: 10.1038/s41588-018-0281-y. Epub 2018 Dec 21.

PMID: 30578417 Free PMC article.

40. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F.

J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24.

PMID: 30143558 Free PMC article.

41. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, Smith ER, Mane SM, Lifton RP, Stein DR, Ferguson MA, Hildebrandt F.

Hypertension. 2018 Apr;71(4):691-699. doi: 10.1161/HYPERTENSIONAHA.117.10296. Epub 2018 Feb 26.

PMID: 29483232 Free PMC article.

42. History of Childhood Kidney Disease and Risk of Adult End-Stage Renal Disease.

Calderon-Margalit R, Golan E, Twig G, Leiba A, Tzur D, Afek A, Skorecki K, Vivante A.

N Engl J Med. 2018 Feb 1;378(5):428-438. doi: 10.1056/NEJMoa1700993.

PMID: 29385364

43. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.

van der Ven AT, Kobbe B, Kohl S, Shril S, Pogoda HM, Imhof T, Ityel H, Vivante A, Chen J, Hwang DY, Connaughton DM, Mann N, Widmeier E, Taglienti M, Schmidt JM, Nakayama M, Senguttuvan P, Kumar S, Tasic V, Kehinde EO, Mane SM, Lifton RP, Soliman N, Lu W, Bauer SB, Hammerschmidt M, Wagener R, Hildebrandt F.

PLoS One. 2018 Jan 19;13(1):e0191224. doi: 10.1371/journal.pone.0191224. eCollection 2018.

PMID: 29351342 Free PMC article.

44. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10.

PMID: 29127259 Free PMC article.

45. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

van der Ven AT, Vivante A, Hildebrandt F.

J Am Soc Nephrol. 2018 Jan;29(1):36-50. doi: 10.1681/ASN.2017050561. Epub 2017 Oct 27.

PMID: 29079659 Free PMC article. Review.

46. Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.

Tan W, Lovric S, Ashraf S, Rao J, Schapiro D, Airik M, Shril S, Gee HY, Baum M, Daouk G, Ferguson MA, Rodig N, Somers MJG, Stein DR, Vivante A, Warejko JK, Widmeier E, Hildebrandt F.

Pediatr Nephrol. 2018 Feb;33(2):305-314. doi: 10.1007/s00467-017-3801-6. Epub 2017 Sep 18.

PMID: 28921387 Free PMC article.

47. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F.

Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12.

PMID: 28893421 Free PMC article.

48. Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.

van der Ven AT, Shril S, Ityel H, Vivante A, Chen J, Hwang DY, Laricchia KM, Lek M, Tasic V, Hildebrandt F.

Mol Syndromol. 2017 Aug;8(5):272-277. doi: 10.1159/000477750. Epub 2017 Jul 1.

PMID: 28878612 Free PMC article.

49. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, Lifton RP, Anikster Y, Hildebrandt F.

Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5.

PMID: 28779239 Free PMC article.

50. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations viaDysregulation of Retinoic Acid Signaling.

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.

J Am Soc Nephrol. 2017 Aug;28(8):2364-2376. doi: 10.1681/ASN.2016060694. Epub 2017 Apr 5.

PMID: 28381549 Free PMC article.

60. Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

Ta-Shma A, Khan TN, Vivante A, Willer JR, Matak P, Jalas C, Pode-Shakked B, Salem Y, Anikster Y, Hildebrandt F, Katsanis N, Elpeleg O, Davis EE.

Am J Hum Genet. 2017 Apr 6;100(4):666-675. doi: 10.1016/j.ajhg.2017.02.007. Epub 2017 Mar 16.

PMID: 28318500 Free PMC article.

61. 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.

N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.

PMID: 28121514 Free PMC article.

62. Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.

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.

J Am Soc Nephrol. 2017 Jan;28(1):69-75. doi: 10.1681/ASN.2015080962. Epub 2016 May 5.

PMID: 27151922 Free PMC article.

63. Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.

Kohl S, Chen J, Vivante A, Hwang DY, Shril S, Dworschak GC, Van Der Ven A, Sanna-Cherchi S, Bauer SB, Lee RS, Soliman NA, Kehinde EO, Reutter HM, Tasic V, Hildebrandt F.

Nephrol Dial Transplant. 2016 Aug;31(8):1280-3. doi: 10.1093/ndt/gfv447. Epub 2016 Jan 29.

PMID: 26908769 Free PMC article.

64. Exploring the genetic basis of early-onset chronic kidney disease.

Vivante A, Hildebrandt F.

Nat Rev Nephrol. 2016 Mar;12(3):133-46. doi: 10.1038/nrneph.2015.205. Epub 2016 Jan 11.

PMID: 26750453 Free PMC article. Review.

65. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

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.

Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30.

PMID: 26235987 Free PMC article.

66. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.

Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M.

J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5.

PMID: 26047794 Free PMC article.

67. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

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.

Hum Genet. 2015 Aug;134(8):905-16. doi: 10.1007/s00439-015-1570-5. Epub 2015 May 31.

PMID: 26026792 Free PMC article. Clinical Trial.

68. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F.

J Am Soc Nephrol. 2014 Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103. Epub 2014 Apr 3.

PMID: 24700879 Free PMC article.

69. Childhood history of resolved glomerular disease and risk of hypertension during adulthood.

Vivante A, Twig G, Tirosh A, Skorecki K, Calderon-Margalit R.

JAMA. 2014 Mar 19;311(11):1155-7. doi: 10.1001/jama.2013.284310.

PMID: 24643607 No abstract available.

70. A human integrin-α3 mutation confers major renal developmental defects.

Shukrun R, Vivante A, Pleniceanu O, Vax E, Anikster Y, Dekel B, Lotan D.

PLoS One. 2014 Mar 12;9(3):e90879. doi: 10.1371/journal.pone.0090879. eCollection 2014.

PMID: 24621570 Free PMC article.

71. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F.

Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15.

PMID: 24429398 Free PMC article.

72. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Vivante A, Kohl S, Hwang DY, Dworschak GC, Hildebrandt F.

Pediatr Nephrol. 2014 Apr;29(4):695-704. doi: 10.1007/s00467-013-2684-4. Epub 2014 Jan 8.

PMID: 24398540 Free PMC article. Review.

73. Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.

Vivante A, Mark-Danieli M, Davidovits M, Harari-Steinberg O, Omer D, Gnatek Y, Cleper R, Landau D, Kovalski Y, Weissman I, Eisenstein I, Soudack M, Wolf HR, Issler N, Lotan D, Anikster Y, Dekel B.

J Am Soc Nephrol. 2013 Mar;24(4):550-8. doi: 10.1681/ASN.2012010097. Epub 2013 Mar 21.

PMID: 23520208 Free PMC article.

74. Hematuria and risk for end-stage kidney disease.

Vivante A, Calderon-Margalit R, Skorecki K.

Curr Opin Nephrol Hypertens. 2013 May;22(3):325-30. doi: 10.1097/MNH.0b013e32835f7241.

PMID: 23449218 Review.

75. Body mass index in 1.2 million adolescents and risk for end-stage renal disease.

Vivante A, Golan E, Tzur D, Leiba A, Tirosh A, Skorecki K, Calderon-Margalit R.

Arch Intern Med. 2012 Nov 26;172(21):1644-50. doi: 10.1001/2013.jamainternmed.85.

PMID: 23108588 Free PMC article.

76. Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.

Vivante A, Lotan D, Pode-Shakked N, Landau D, Svec P, Nampoothiri S, Verma I, Abu-Libdeh A, Bockenhauer D, Dekel B, Anikster Y.

Nephron Physiol. 2011;119(3):p31-9. doi: 10.1159/000329668. Epub 2011 Aug 18.

PMID: 21849803

77. Persistent asymptomatic isolated microscopic hematuria in Israeli adolescents and young adults and risk for end-stage renal disease.

Vivante A, Afek A, Frenkel-Nir Y, Tzur D, Farfel A, Golan E, Chaiter Y, Shohat T, Skorecki K, Calderon-Margalit R.

JAMA. 2011 Aug 17;306(7):729-36. doi: 10.1001/jama.2011.1141.

PMID: 21846854

78. Congenital diaphragmatic hernia: 22 years experience in a single tertiary medical center.

Vivante A, Bilik R, Schushan Eisen I, Kuint J.

Isr Med Assoc J. 2008 Dec;10(12):880-3.

PMID: 19160947

79. Intracardiac thrombus and pulmonary aneurysms in an adolescent with Behçet disease.

Vivante A, Bujanover Y, Jacobson J, Padeh S, Berkun Y.

Rheumatol Int. 2009 Mar;29(5):575-7. doi: 10.1007/s00296-008-0730-5. Epub 2008 Oct 11.

PMID: 18850100

80. Association between acute lead exposure in indoor firing ranges and iron metabolism.

Vivante A, Hirshoren N, Shochat T, Merkel D.

Isr Med Assoc J. 2008 Apr;10(4):292-5.

PMID: 18548984