Authors: Baasanjav, Sevjidmaa Al-Gazali, Lihadh Hashiguchi, Taishi Mizumoto, Shuji

Citation: Baasanjav, Sevjidmaa et al., Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 15-27

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: Dixon-Salazar, Tracy Silhavy, Jennifer L. Marsh, Sarah E. Louie, Carrie M. Scott, Lesley C. Gururaj, Aithala Al-Gazali, Lihadh Al-Tawari, Asma A. Kayserili, Hulya Sztriha, László Gleeson, Joseph G.

Citation: Dixon-salazar, Tracy et al., Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria, American journal of human genetics , 75(6), 2004, pp. 979-987