Table of contents

Genotype-phenotype correlations

• Original research:

  SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice

  (30 June, 2023)

  Max Drabkin, Matan M Jean, Yael Noy, Daniel Halperin, Yuval Yogev, Ohad Wormser, Regina Proskorovski-Ohayon, Vadim Dolgin, Noam Levaot, Vlad Brumfeld, Shira Ovadia, Mor Kishner, Udi Kazenell, Karen B Avraham, Ilan Shelef, Ohad S Birk
• Original research:

  Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction

  (30 June, 2023)

  Nan Zhou, Qianhao Zhao, Rui Li, Ruofei Cheng, Qiuping Wu, Jianding Cheng, Yangxin Chen
• Original research:

  Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

  (14 August, 2023)

  Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Denis Morin, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Wesley G Patterson, Raymond Louie, Filippo Pinto e Vairo, Eric Klee, Charu Kaiwar, Ralitza H Gavrilova, Katherine E Agre, Sebastien Jacquemont, Jizi Khadijé, Jacques Giltay, Koen van Gassen, Gabriella Merő, Erica Gerkes, Bregje W Van Bon, Tuula Rinne, Rolph Pfundt, Han G Brunner, Oana Caluseriu, Ute Grasshoff, Martin Kehrer, Tobias B Haack, Melik Malek Khelifa, Anke Katharina Bergmann, Anna Maria Cueto-González, Ariadna Campos Martorell, Shwetha Ramachandrappa, Lindsey B Sawyer, Pascale Fasel, Dominique Braun, Atallah Isis, Andrea Superti-Furga, Vanda McNiven, David Chitayat, Syed Anas Ahmed, Heiko Brennenstuhl, Eva MC Schwaibolf, Gladys Battisti, Benoit Parmentier, Servi J C Stevens