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Items: 1 to 50 of 61

1.

Integrative analysis of rare copy number variants and gene expression data in Alopecia Areata implicates an etiological role for autophagy.

Petukhova L, Patel AV, Rigo RK, Bian L, Verbitsky M, Sanna-Cherchi S, Erjavec SO, Abdelaziz AR, Cerise JE, Jabbari A, Christiano AM.

Exp Dermatol. 2019 Jun 6. doi: 10.1111/exd.13986. [Epub ahead of print]

PMID:
31169925
2.

Exome-Based Rare-Variant Analyses in CKD.

Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG.

J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13.

PMID:
31085678
3.

Immunohistochemical expression pattern of RIP5, FGFR1, FGFR2 and HIP2 in the normal human kidney development.

Racetin A, Raguž F, Durdov MG, Kunac N, Saraga M, Sanna-Cherchi S, Šoljić V, Martinović V, Petričević J, Kostić S, Mardešić S, Tomaš SZ, Kablar B, Restović I, Lozić M, Filipović N, Saraga-Babić M, Vukojević K.

Acta Histochem. 2019 Jul;121(5):531-538. doi: 10.1016/j.acthis.2019.04.011. Epub 2019 Apr 29.

PMID:
31047684
4.

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.

Nat Genet. 2019 Apr;51(4):764. doi: 10.1038/s41588-019-0376-0.

PMID:
30816350
5.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG.

N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

PMID:
30586318
6.

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.

Van Batavia JP, Crowley TB, Burrows E, Zackai EH, Sanna-Cherchi S, McDonald-McGinn DM, Kolon TF.

Am J Med Genet A. 2019 Mar;179(3):381-385. doi: 10.1002/ajmg.a.61020. Epub 2018 Dec 24.

PMID:
30582277
7.

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. Erratum in: Nat Genet. 2019 Apr;51(4):764.

PMID:
30578417
8.

The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.

Rasouly HM, Groopman EE, Heyman-Kantor R, Fasel DA, Mitrotti A, Westland R, Bier L, Weng C, Ren Z, Copeland B, Krithivasan P, Chung WK, Sanna-Cherchi S, Goldstein DB, Gharavi AG.

Ann Intern Med. 2018 Nov 27. doi: 10.7326/M18-1241. [Epub ahead of print]

PMID:
30476936
9.

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
10.

Genetic basis of human congenital anomalies of the kidney and urinary tract.

Sanna-Cherchi S, Westland R, Ghiggeri GM, Gharavi AG.

J Clin Invest. 2018 Jan 2;128(1):4-15. doi: 10.1172/JCI95300. Epub 2018 Jan 2. Review.

11.

A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.

Besse W, Choi J, Ahram D, Mane S, Sanna-Cherchi S, Torres V, Somlo S.

Hum Mutat. 2018 Mar;39(3):378-382. doi: 10.1002/humu.23383. Epub 2018 Jan 24.

12.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Dec 7;101(6):1034. doi: 10.1016/j.ajhg.2017.11.003. No abstract available.

13.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG.

Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5. Erratum in: Ann Intern Med. 2018 Feb 20;168(4):308.

14.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Erratum in: Am J Hum Genet. 2017 Dec 7;101(6):1034.

15.

Isolated polycystic liver disease genes define effectors of polycystin-1 function.

Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S.

J Clin Invest. 2017 Sep 1;127(9):3558. doi: 10.1172/JCI96729. Epub 2017 Sep 1.

16.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation 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.

17.

Isolated polycystic liver disease genes define effectors of polycystin-1 function.

Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S.

J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4. Erratum in: J Clin Invest. 2017 Sep 1;127(9):3558.

18.

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.

19.

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.

Garone C, Gurgel-Giannetti J, Sanna-Cherchi S, Krishna S, Naini A, Quinzii CM, Hirano M.

J Child Neurol. 2017 Feb;32(2):246-250. doi: 10.1177/0883073816666221. Epub 2016 Sep 28.

PMID:
27651038
20.

tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.

Gillies CE, Otto EA, Vega-Warner V, Robertson CC, Sanna-Cherchi S, Gharavi A, Crawford B, Bhimma R, Winkler C; Nephrotic Syndrome Study Network (NEPTUNE); C-PROBE InvestigatorGroup of the Michigan Kidney Translational Core Center, Kang HM, Sampson MG.

BMC Bioinformatics. 2016 Jun 10;17(1):233. doi: 10.1186/s12859-016-1108-4.

21.

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.

22.

[Genetic Basis of Congenital Anomalies of the Kidney and Urinary Tract].

Bodria M, Sanna-Cherchi S.

G Ital Nefrol. 2015;32 Suppl 64. pii: gin/32.S64.16. Review. Italian.

PMID:
26479062
23.

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.

Westland R, Verbitsky M, Vukojevic K, Perry BJ, Fasel DA, Zwijnenburg PJ, Bökenkamp A, Gille JJ, Saraga-Babic M, Ghiggeri GM, D'Agati VD, Schreuder MF, Gharavi AG, van Wijk JA, Sanna-Cherchi S.

Kidney Int. 2015 Dec;88(6):1402-1410. doi: 10.1038/ki.2015.239. Epub 2015 Sep 9.

24.

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.

25.

Genomic imbalances in pediatric patients with chronic kidney disease.

Verbitsky M, Sanna-Cherchi S, Fasel DA, Levy B, Kiryluk K, Wuttke M, Abraham AG, Kaskel F, Köttgen A, Warady BA, Furth SL, Wong CS, Gharavi AG.

J Clin Invest. 2015 May;125(5):2171-8. doi: 10.1172/JCI80877. Epub 2015 Apr 20.

26.

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, Fasel D, Lata S, Prakash S, Shapiro S, Fischman C, Snyder HJ, Appel G, Izzi C, Viola BF, Dallera N, Del Vecchio L, Barlassina C, Salvi E, Bertinetto FE, Amoroso A, Savoldi S, Rocchietti M, Amore A, Peruzzi L, Coppo R, Salvadori M, Ravani P, Magistroni R, Ghiggeri GM, Caridi G, Bodria M, Lugani F, Allegri L, Delsante M, Maiorana M, Magnano A, Frasca G, Boer E, Boscutti G, Ponticelli C, Mignani R, Marcantoni C, Di Landro D, Santoro D, Pani A, Polci R, Feriozzi S, Chicca S, Galliani M, Gigante M, Gesualdo L, Zamboli P, Battaglia GG, Garozzo M, Maixnerová D, Tesar V, Eitner F, Rauen T, Floege J, Kovacs T, Nagy J, Mucha K, Pączek L, Zaniew M, Mizerska-Wasiak M, Roszkowska-Blaim M, Pawlaczyk K, Gale D, Barratt J, Thibaudin L, Berthoux F, Canaud G, Boland A, Metzger M, Panzer U, Suzuki H, Goto S, Narita I, Caliskan Y, Xie J, Hou P, Chen N, Zhang H, Wyatt RJ, Novak J, Julian BA, Feehally J, Stengel B, Cusi D, Lifton RP, Gharavi AG.

Nat Genet. 2014 Nov;46(11):1187-96. doi: 10.1038/ng.3118. Epub 2014 Oct 12.

27.

α-Intercalated cells defend the urinary system from bacterial infection.

Paragas N, Kulkarni R, Werth M, Schmidt-Ott KM, Forster C, Deng R, Zhang Q, Singer E, Klose AD, Shen TH, Francis KP, Ray S, Vijayakumar S, Seward S, Bovino ME, Xu K, Takabe Y, Amaral FE, Mohan S, Wax R, Corbin K, Sanna-Cherchi S, Mori K, Johnson L, Nickolas T, D'Agati V, Lin CS, Qiu A, Al-Awqati Q, Ratner AJ, Barasch J.

J Clin Invest. 2014 Jul;124(7):2963-76. doi: 10.1172/JCI71630. Epub 2014 Jun 17. Erratum in: J Clin Invest. 2014 Dec 1;124(12):5521.

28.

Recessive mutations in CAKUT and VACTERL association.

Westland R, Sanna-Cherchi S.

Kidney Int. 2014 Jun;85(6):1253-5. doi: 10.1038/ki.2013.495.

29.

Phenotypic expansion of DGKE-associated diseases.

Westland R, Bodria M, Carrea A, Lata S, Scolari F, Fremeaux-Bacchi V, D'Agati VD, Lifton RP, Gharavi AG, Ghiggeri GM, Sanna-Cherchi S.

J Am Soc Nephrol. 2014 Jul;25(7):1408-14. doi: 10.1681/ASN.2013080886. Epub 2014 Feb 7.

30.

Clinical implications of the solitary functioning kidney.

Westland R, Schreuder MF, van Goudoever JB, Sanna-Cherchi S, van Wijk JA.

Clin J Am Soc Nephrol. 2014 May;9(5):978-86. doi: 10.2215/CJN.08900813. Epub 2013 Dec 26. Review.

31.

The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.

Materna-Kiryluk A, Kiryluk K, Burgess KE, Bieleninik A, Sanna-Cherchi S, Gharavi AG, Latos-Bielenska A.

Pediatr Nephrol. 2014 Feb;29(2):257-67. doi: 10.1007/s00467-013-2625-2. Epub 2013 Nov 30.

32.

Mutations in DSTYK and dominant urinary tract malformations.

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, Vukic DK, 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.

N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17.

33.

Copy-number disorders are a common cause of congenital kidney malformations.

Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG.

Am J Hum Genet. 2012 Dec 7;91(6):987-97. doi: 10.1016/j.ajhg.2012.10.007. Epub 2012 Nov 15.

34.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM.

Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27.

35.

Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.

Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, Eitner F, Snyder HJ, Choi M, Hou P, Scolari F, Izzi C, Gigante M, Gesualdo L, Savoldi S, Amoroso A, Cusi D, Zamboli P, Julian BA, Novak J, Wyatt RJ, Mucha K, Perola M, Kristiansson K, Viktorin A, Magnusson PK, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Boland A, Metzger M, Thibaudin L, Wanner C, Jager KJ, Goto S, Maixnerova D, Karnib HH, Nagy J, Panzer U, Xie J, Chen N, Tesar V, Narita I, Berthoux F, Floege J, Stengel B, Zhang H, Lifton RP, Gharavi AG.

PLoS Genet. 2012;8(6):e1002765. doi: 10.1371/journal.pgen.1002765. Epub 2012 Jun 21.

36.

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.

Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG.

Kidney Int. 2011 Aug;80(4):389-96. doi: 10.1038/ki.2011.148. Epub 2011 Jun 22.

37.

'Congenital solitary functioning kidneys: which ones warrant follow-up into adult life?'.

Corbani V, Ghiggeri GM, Sanna-Cherchi S.

Nephrol Dial Transplant. 2011 May;26(5):1458-60. doi: 10.1093/ndt/gfr145. Epub 2011 Apr 5. No abstract available.

PMID:
21467130
38.

Genome-wide association study identifies susceptibility loci for IgA nephropathy.

Gharavi AG, Kiryluk K, Choi M, Li Y, Hou P, Xie J, Sanna-Cherchi S, Men CJ, Julian BA, Wyatt RJ, Novak J, He JC, Wang H, Lv J, Zhu L, Wang W, Wang Z, Yasuno K, Gunel M, Mane S, Umlauf S, Tikhonova I, Beerman I, Savoldi S, Magistroni R, Ghiggeri GM, Bodria M, Lugani F, Ravani P, Ponticelli C, Allegri L, Boscutti G, Frasca G, Amore A, Peruzzi L, Coppo R, Izzi C, Viola BF, Prati E, Salvadori M, Mignani R, Gesualdo L, Bertinetto F, Mesiano P, Amoroso A, Scolari F, Chen N, Zhang H, Lifton RP.

Nat Genet. 2011 Mar 13;43(4):321-7. doi: 10.1038/ng.787.

39.

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

Thomas R, Sanna-Cherchi S, Warady BA, Furth SL, Kaskel FJ, Gharavi AG.

Pediatr Nephrol. 2011 Jun;26(6):897-903. doi: 10.1007/s00467-011-1826-9. Epub 2011 Mar 5.

40.

Urinary NGAL marks cystic disease in HIV-associated nephropathy.

Paragas N, Nickolas TL, Wyatt C, Forster CS, Sise M, Morgello S, Jagla B, Buchen C, Stella P, Sanna-Cherchi S, Carnevali ML, Mattei S, Bovino A, Argentiero L, Magnano A, Devarajan P, Schmidt-Ott KM, Allegri L, Klotman P, D'Agati V, Gharavi AG, Barasch J.

J Am Soc Nephrol. 2009 Aug;20(8):1687-92. doi: 10.1681/ASN.2009010065. Epub 2009 Jul 23.

41.

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

Sanna-Cherchi S, Ravani P, Corbani V, Parodi S, Haupt R, Piaggio G, Innocenti ML, Somenzi D, Trivelli A, Caridi G, Izzi C, Scolari F, Mattioli G, Allegri L, Ghiggeri GM.

Kidney Int. 2009 Sep;76(5):528-33. doi: 10.1038/ki.2009.220. Epub 2009 Jun 17.

42.

A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

Weng PL, Sanna-Cherchi S, Hensle T, Shapiro E, Werzberger A, Caridi G, Izzi C, Konka A, Reese AC, Cheng R, Werzberger S, Schlussel RN, Burk RD, Lee JH, Ravazzolo R, Scolari F, Ghiggeri GM, Glassberg K, Gharavi AG.

J Am Soc Nephrol. 2009 Jul;20(7):1633-40. doi: 10.1681/ASN.2008111199. Epub 2009 May 14.

43.

Scara5 is a ferritin receptor mediating non-transferrin iron delivery.

Li JY, Paragas N, Ned RM, Qiu A, Viltard M, Leete T, Drexler IR, Chen X, Sanna-Cherchi S, Mohammed F, Williams D, Lin CS, Schmidt-Ott KM, Andrews NC, Barasch J.

Dev Cell. 2009 Jan;16(1):35-46. doi: 10.1016/j.devcel.2008.12.002.

44.

Familial forms of nephrotic syndrome.

Caridi G, Trivelli A, Sanna-Cherchi S, Perfumo F, Ghiggeri GM.

Pediatr Nephrol. 2010 Feb;25(2):241-52. doi: 10.1007/s00467-008-1051-3. Epub 2008 Dec 9. Review.

PMID:
19066979
45.

Quantifying collagen in mouse kidneys.

Sanna-Cherchi S.

Kidney Int. 2008 May;73(9):987-9. doi: 10.1038/ki.2008.70.

46.

Genetic approaches to human renal agenesis/hypoplasia and dysplasia.

Sanna-Cherchi S, Caridi G, Weng PL, Scolari F, Perfumo F, Gharavi AG, Ghiggeri GM.

Pediatr Nephrol. 2007 Oct;22(10):1675-84. Epub 2007 Apr 17. Review. Erratum in: Pediatr Nephrol. 2007 Oct;22(10):1685-6.

47.

Alterations of type IV collagen alpha chains in patients with chronic acquired glomerulopathies: mRNA levels, protein expression and urinary loss.

Sanna-Cherchi S, Carnevali ML, Martorana D, Cravedi P, Maggiore U, Alinovi R, Bovino A, Mattei S, Orlandini G, Gatti R, Savi M, Sado Y, Neri TM, Allegri L.

Am J Nephrol. 2007;27(2):129-37. Epub 2007 Feb 15.

PMID:
17308374
48.

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.

Sanna-Cherchi S, Caridi G, Weng PL, Dagnino M, Seri M, Konka A, Somenzi D, Carrea A, Izzi C, Casu D, Allegri L, Schmidt-Ott KM, Barasch J, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG.

Am J Hum Genet. 2007 Mar;80(3):539-49. Epub 2007 Jan 26.

49.

Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected].

Caridi G, Dagnino M, Sanna-Cherchi S, Perfumo F, Ghiggeri GM.

Transplant Proc. 2006 Dec;38(10):3486-90. Erratum in: Transplant Proc. 2007 Jan-Feb;39(1):314.

PMID:
17175312
50.

Characterization of a large Lebanese family segregating IgA nephropathy.

Karnib HH, Sanna-Cherchi S, Zalloua PA, Medawar W, D'Agati VD, Lifton RP, Badr K, Gharavi AG.

Nephrol Dial Transplant. 2007 Mar;22(3):772-7. Epub 2006 Dec 15.

PMID:
17172253

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