Authors: Schrijver, Iris Liu, Wanguo Odom, Raanan Brenn, Thomas Oefner, Peter Furthmayr, Heinz Francke, Uta

Citation: Schrijver, Iris et al., Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes, American journal of human genetics , 71(2), 2002, pp. 223-237

Authors: Snoeckx, Rikkert L. Hugen, Patrick L.M. Feldmann, Delphine Marlin, Sandrine Denoyelle, Françoise Waligora, Jaroslaw Mueller-Malesinska, Malgorzata Pollak, Agneszka Ploski, Rafal Murgia, Alessandra Orzan, Eva Castorina, Pierangela Ambrosetti, Umberto Nowakowska-Szyrwinska, Ewa Bal, Jerzy Wiszniewski, Wojiciech Janecke, Andreas R. Nekahm-Heis, Doris Seeman, Pavel Bendova, Olga Kenna, Margaret A. Frangulov, Anna Rehm, Heidi L. Tekin, Mustafa Incesulu, Armagan Dahl, Hans-Henrik M. du Sart, Desirèe Jenksins, Lucy Lucas, Deirdre Bitner-Glindzicz, Maria Avraham, Karen B. Brownstein, Zippora del Castillo, Ignacio Moreno, Felipe Blin, Nikolaus Pfister, Markus Sziklai, Istvan Toth, Timea Kelley, Philip M. Cohn, Edward S. Van Maldergem, Lionel Hilbert, Pascale Roux, Anne-Françoise Mondain, Michel Hoefsloot, Lies H. Cremers, Cor W.R.J. Löppönen, Tuija Löppönen, Heikki Parving, Agnete Gronskov, Karen Schrijver, Iris Roberson, Joseph Gualandi, Francesca Martini, Alessandro Lina-Granade, Geneviève Pallares-Ruiz, Nathalie Correia, Céu Fialho, Graça Cryns, Kim Hilgert, Nele Van de Heyning, Paul Nishimura, Carla J. Smith, Richard J.H. Van Camp, Guy

Citation: L. Snoeckx, Rikkert et al., GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study, American journal of human genetics , 77(6), 2005, pp. 945-957