Authors: Klopocki, Eva Lohan, Silke Brancati, Francesco Koll, Randi Mundlos, Stefan

Citation: Klopocki, Eva et al., Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 70-75

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: Brancati, Francesco Fortugno, Paola Bottillo, Irene Lopez, Marc Dallapiccola, Bruno

Citation: Brancati, Francesco et al., Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 265-273

Authors: Sirmaci, Asli Spiliopoulos, Michail Brancati, Francesco Powell, Eric

Citation: Sirmaci, Asli et al., Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 289-294

Authors: Spielmann, Malte Brancati, Francesco Krawitz, Peter M.

Citation: Spielmann, Malte et al., Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus, American journal of human genetics (Online) AJHG , 91(4), 2012, pp. 629-635