* papers acknowledging EUCILIA

In Press

De Matteis MA, Luini A. Mendelian disorders of membrane trafficking. New Eng J Med, in press.

Glick B, Luini A. Mechanisms of intra-Golgi traffic. Cold Spring Harbor monographs ‘The Golgi’, in press.

* Yang JS, Valente C, Polishchuk RS, Layre E, Turacchio G, Leslie CC, Moody DB, Gelb MH, Brown WJ, Corda D, et al. Progenitor COPI buds can form either Golgi vesicles or tubules. Nat Cell Biol, in press.


Baker K, Chong WK, Northam G, Banks T, Beales P, Baldeweg T (2011). Neocortical and hippocampal volume loss in a human ciliopathy: a quantitative MRI study in Bardet Biedl Syndrome. Am J Med Genet A 155: 1-8.

* Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B (2011). Ofd1 is required in limb bud patterning and endochondral bone development. Dev Biol 349: 179-191.

Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, et al. (2011). TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 43: 189-196.

Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, Van Der Kraak L, Allen SJ, Beales PL, Katsanis N, et al. (2011). Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 129: 79-90.

Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Piñeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL (2011). Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. Eur J Hum Genet 19: 485-488.

Rix S, Calmont A, Scambler PJ, Beales PL (2011). An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Hum Mol Genet 20: 1306-1314.

* Rooryck C, Diaz-Font A, Osborn DPS, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Al Kaissi A, et al. (2011). Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet 43: 197-203.

Thauvin-Robinet C, Lesca G, Aral B, Gigot N, Lambert S, Gueneau L, Macca M, Franco B, Huet F, Zabot MT, et al. (2011). Cerebral dysgenesis does not exclude OFD I syndrome. Am J Med Genet A 155: 455-457.


* Boehlke C, Bashkurov M, Buescher A, Krick T, John AK, Nitschke R, Walz G, Kuehn EW (2010). Differential role of Rab proteins in ciliary trafficking: Rab23 regulates smoothened levels. J Cell Sci 123: 1460-1467.

* D’Angelo A, Franco B (2010). The primary cilium in different tissues-lessons from patients and animal models. Pediatr Nephrol 2010 Oct 3. [Epub ahead of print]

Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, et al. (2010). Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet 47: 262-267.

* Lienkamp S, Ganner A, Boehlke C, Schmidt T, Arnold SJ, Schäfer T, Romaker D, Schuler J, Hoff S, Powelske C, et al. (2010). Inversin relays Frizzled-8 signals to promote proximal pronephros development. Proc Natl Acad Sci USA 107: 20388-20393.

* May-Simera HL, Kai M, Hernandez-Hernandez V, Osborn DP, Tada M, Beales PL (2010). Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. Dev Biol 345: 215-225.

Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, et al. (2010). Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet 77: 258-265.

Toriello HV, Franco B (1993. Updated in 2010). Oral-Facial-Digital Syndrome Type I. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2002 Jul 24 [updated 2010 Oct 14].

* Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Francesco E, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, et al. (2010). Cranioectodermal dysplasia (Sensenbrenner Syndrome) is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet 86: 949-956.

Waters AM, Beales PL (2010). Bardet-Biedl Syndrome. In: Gene Reviews (Pagon, R.A., Bird, T.C., Dolan, C.R., and Stephens, K., editors, Seattle).

* Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dolle P, Igarashi P, Franco B (2010). Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. Hum Mol Genet 19: 2792-2803.


Baker K, Beales PL (2009). Making sense of cilia in disease: The human ciliopathies. Am J Med Genet Semin Med Genet C 151C: 281-295.

Blotta S, Tassone P, Prabhala RH, Tagliaferri P, Cervi D, Amin S, Jakubikova J, Tai YT, Podar K, Mitsiades CS, et al. (2009). Identification of novel antigens with induced immune response in monoclonal gammopathy of undetermined significance. Blood 114: 3276-3284.

D’Angelo A, Franco B (2009). The dynamic cilium in human diseases. Pathogenetics 2: 3.

* de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, et al. (2009). Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci USA 106: 13921-13926.

* Ganner A, Lienkamp S, Schäfer T, Romaker D, Wegierski T, Park TJ, Gerner M, Spreitzer S. Simons M, Gloy J, et al. (2009). Regulation of ciliary polarity by the APC/C. Proc Natl Acad Sci USA 106: 17799-17804.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF,  et al. (2009). A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 41: 739-745.

* Macca M, Franco B (2009). The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet C 151C: 318-325.

May-Simera HL, Ross A, Rix S, Forge A, Beales PL, Jagger DJ (2009). Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions. J Comp Neurol 514: 174-188.

* Pearson CG, Osborn DP, Giddings TH Jr, Beales PL, Winey M (2009). Basal body stability and ciliogenesis requires the conserved component Poc1. J Cell Biol 187: 905-920.

Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A et al. (2009a). Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene. Am J Med Genet A 149A: 1846-1849.

Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M et al. (2009b). Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. Hum Mutat 30: E320-329.

Tobin JL, Beales PL (2009). The nonmotile ciliopathies. Genet Med 11: 386-402.

van Haelst MM, Wang R, Kantaputra PN, Palmer R, Beales P (2009). Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup). Am J Med Genet A 149A: 833-834.


Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, et al. (2008). Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 82: 959-970.

Cannon PS, Clayton-Smith J, Beales PL, Lloyd IC (2008). Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. Ophthalmic Genet 29: 128-132.

Diaz-Font A, Beales PL (2008). How to shape cells and influence polarized protein trafficking. Dev Cell 15: 799-800.

Goldstone AP, Beales PL (2008). Genetic obesity syndromes. Front Horm Res 36: 37-60.

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, et al. (2008). Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 40: 443-448.

Morleo M, Franco B (2008). Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. J Med Genet 45: 401-408.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B (2008). Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat 29: 1237-1246.

Quinlan RJ, Tobin JL, Beales PL (2008). Modeling ciliopathies: Primary cilia in development and disease. Curr Top Dev Biol 84: 249-310.

Tobin JL, Beales PL (2008). Restoration of renal function in zebrafish models of ciliopathies. Pediatr Nephrol 23: 2095-2099.

Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, et al. (2008). Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet-Biedl syndrome. Proc Natl Acad Sci USA 105: 6714-6719.