1. Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.Nat Genet. 2008 Apr;40(4):443-8. Epub 2008 Mar 9
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2. Perciliz L. Tan, Travis Barr, Peter N. Inglis, Norimasa Mitsuma1, Susan M. Huang, Miguel A. Garcia-Gonzalez, Brian A. Bradley, Stephanie Coforio, Phillip J. Albrecht, Terry Watnick, Gregory G. Germino, Philip L. Beales, Michael J. Caterina, Michel R. Leroux, Frank L. Rice, Nicholas Katsanis Loss of BBS proteins causes defects in peripheral sensory innervation and function. PNAS
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3. Jantje M. Gerdes, Yangfan Liu, Norann A. Zaghloul, Carmen C. Leitch, Shaneka S. Lawson, Masaki Kato, Philip A. Beachy, Philip L. Beales, George N. DeMartino, Shannon Fisher, Jose L. Badano, Nicholas Katsanis Disruption of the basal body compromises proteasomal function and perturbs the intracellular Wnt response. Nat Genet.
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4. Gherman A, Davis EE, Katsanis N The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet. 2006 Sept;38(9):961-2.
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5. Davis EE, Brueckner M, Katsanis N The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle. Dev Cell. 2006 Jul; 11(1):9-19
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6. Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Da Silva E, Rossillion B, Sigaudy S, de Ravel TJ, Alan Lewis R, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 2006 May;38(5):521-4. Epub 2006 Apr 2
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7. Katsanis N. Ciliary proteins and exencephaly. Nat Genet. 2006 Feb;38(2):135-6.
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8. Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 2005 Dec 4;
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9. Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet. 2004 Sep;36(9):994-8.
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10. Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, Beales PL, Guay-Woodford LM, Yoder BK, Stormo GD, Katsanis N, Dutcher SK. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell. 2004 May 14;117(4):541-42.
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11. Kim J-C, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat Genet. 2004 May;36(5):462-70.
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12. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. 2003 Oct 9;425(6958):628-33.
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13. Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet. 2003 Jul 15;12(14):1651-9.
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14. Badano JL, Katsanis N. Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet. 2002 Oct;3(10):779-89.
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15. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science. 2001 Sep 21;293(5538):2256-9.
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