Authors: Brancati, Francesco Barrano, Giuseppe Silhavy, Jennifer L. Marsh, Sarah E. Travaglini, Lorena Bielas, Stephanie L. Amorini, Maria Zablocka, Dominika Kayserili, Hulya Al-Gazali, Lihadh Bertini, Enrico Boltshauser, Eugen D'Hooghe, Marc Fazzi, Elisa Fenerci, Elif Y. Hennekam, Raoul C.M. Kiss, Andrea Lees, Melissa M. Marco, Elysa Phadke, Shubha R. Gleeson, Joseph G

Citation: Brancati, Francesco et al., CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome.Related Disorders, American journal of human genetics , 81(1), 2007, pp. 104-113

Authors: Johnston, Jennifer J. Olivos-Glander, Isabelle Killoran, Christina Elson, Emma Turner, Joyce T. Peters, Kathryn F. Abbott, Margaret H. Aughton, David J. Aylsworth, Arthur S. Bamshad, Michael J. Booth, Carol Curry, Cynthia J. David, Albert Binulos, Mary Beth Flannery, David B. Fox, Michelle A. Graham, John M. Jr. Grange, Dorothy K. Guttmacher, Alan E. Hannibal, Mark C. Henn, Wolfram Hennekam, Raoul C.M. Holmes, Lewis B. Eugene Hoyme, H. Leppig, Kathleen A. Lin, Angela E. MacLeod, Patrick Manchester, David K. Marcelis, Carlo Mazzanti, Laura McCann, Laura McDonald, Marie T. Mendelsohn, Nancy J. Moeschler, John B. Moghaddam, Billur Neri, Giovanni Newbury-Ecob, Ruth Pagon, Roberta A. Philips, John A. III Sadler, Laurie S. Stoler, Joan M. Tilstra, David Walsh Vockley, Catherine M. Zachai, Elaine H. Zadeh, Touran M. Brueton, Louise Black, Graeme Charles M. Biesecker, Leslie G.

Citation: J. Johnston, Jennifer et al., Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations, American journal of human genetics , 76(4), 2005, pp. 609-622