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