Authors: Sass, Jörn Oliver Mohr, Verena Olbrich, Heike Engelke, Udo Horvath, Judit Fliegauf, Manfred Loges, Niki Tomas Schweitzer-Krantz, Susanne Moebus, Ralf Weiler, Polly Kispert, Andreas Superti-Furga, Andrea Wevers, Ron A. Omran, Heymut

Citation: Sass, Jörn Oliver et al., Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism, American journal of human genetics , 78(3), 2006, pp. 401-409

Authors: Lee, Brendan D'Alessio, Marina Vissing, Henrik Ramirez, Francesco Steinmann, Beat Superti-Furga, Andrea

Citation: Lee, Brendan et al., Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV., American journal of human genetics , 48-I(3), 1991, pp. 511-517

Authors: Vissers, Lisenka E.L.M. Lausch, Ekkehart Unger, Sheila Campos-Xavier, Ana Belinda Superti-Furga, Andrea

Citation: Vissers, Lisenka E.l.m et al., Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP, American journal of human genetics (Online) AJHG , 88(5), 2011, pp. 608-615

Authors: Hanks, Sandra Adams, Sarah Douglas, Jenny Arbour, Laura Atherton, David J. Balci, Sevim Bode, Harald Campbell, Mary E. Feingold, Murray Keser, Gökhan Kleijer, Wim Mancini, Grazia McGrath, John A. Muntoni, Francesco Nanda, Arti Dawn Teare, M. Warman, Matthew Pope, E. Michael Superti-Furga, Andrea Futreal, P. Andrew Rahman, Nazneen

Citation: Hanks, Sandra et al., Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis, American journal of human genetics , 73(4), 2003, pp. 791-800