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