• The genetic components of idiopathic nephrolithiasis. Attanasio M. Pediatr Nephrol.  June 19, 2010 [Epub ahead of print].
  
• Nephrocystin-3 is required for ciliary function in zebrafish embryos. Zhou W, Dai J, Attanasio M, Hildebrandt F. Am J Physiol Renal Physiol. 299:F55-62, 2010.
  
• Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum Mol Genet. 15;19:1985-97, 2010.
  
• Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F. J Clin Invest. 120:791-802, 2010.
  
• Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Utsch B, Wolf MT, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F. Hypomorphic Mutations in Meckelin (MKS3/TMEM67) cause Nephronophthisis with Liver Fibrosis (NPHP11). J Med Genet. 46:663-70, 2009
  
• Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA. A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet. 5:e1000353, 2009
  
• Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 20:23-35, 2009
  Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum Mutat. 29:418-26, 2008
  Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney Int. 72:1520-6, 2007
  
• Hoefele J, Wolf MT, O'Toole JF, Otto EA, Schultheiss U, Deschenes G, Attanasio M, Utsch B, ntignac C, Hildebrandt F. Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol. 18:2789-95, 2007
• Helou J, Otto EA, Attanasio M, Allen SJ, Parisi M, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O' Toole J, Sayer J, Hildebrandt F. Mutation analysis of NPHP6/CEP290 in patients with Joubert-Syndrome and Senior-Loken-Syndrome. J Med Genet. 44:657-63, 2007
• Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F.   Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet. 119:649-58, 2006
• Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A.   In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet. 15:1847-57, 2006
• Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F.   Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol. 21:32-5, 2006 
• Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F. Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Hum Mutat. 25:411, 2005
• Wolf  MT, Zalewski I, Martin FC, Ruf R, Muller D, Hennies HC, Schwarz S, Panther F, Attanasio M, Acosta HG, Imm A, Lucke B, Utsch B, Otto E, Nurnberg P, Nieto VG, Hildebrandt F.  Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol Dial Transplant. 20:909-14, 2005
  
  

SIGNIFICANT PUBLICATIONS

• Attanasio M, Uhlenhaut NH, Sousa VH, O'toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nurnberg G, Becker C, Chudley AE, Nurnberg P, Hildebrandt F, Treier M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet. 39:1018-1024, 2007
• Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nurnberg P, Hildebrandt F. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 38:1397-405, 2006
• Sayer JA, Otto EA, O'toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F.   The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 38:674-81, 2006
• Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F.   Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 37:282-8, 2005