Authors: Stoetzel, Corinne Muller, Jean Laurier, Virginie Davis, Erica E. Zaghloul, Norann A Vicaire, Serge Jacquelin, Cécile Plewniak, Frédéric Leitch, Carmen C. Sarda, Pierre Hamel, Christian De Ravel, Thomy J.L. Lewis, Richard Alan Friederich, Evelyne Thibault, Christelle Danse, Jean-Marc Verloes, Alain Bonneau, Dominique Katsanis, Nicholas Poch, Olivier Dollfus, Hélène

Citation: Stoetzel, Corinne et al., Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome, American journal of human genetics , 80(1), 2007, pp. 1-11

Authors: Lindstrand, Anna Davis, Erica E. Carvalho, Claudia M.B.

Citation: Lindstrand, Anna et al., Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome, American journal of human genetics (Online) AJHG , 94(5), 2014, pp. 745-754