Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Schanze, Denny*" or (type exact bookEditor and editor="Schanze, Denny*") Add to list Journal Article A1 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, et al. (2017) NATURE GENETICS. 49(10). p.1529-1538 Add to list Journal Article A1 Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes Shannon Marchegiani, Taylor Davis, Federico Tessadori, Gijs van Haaften, Francesco Brancati, Alexander Hoischen, Haigen Huang, Elise Valkanas, Barbara Pusey, Denny Schanze, et al. (2015) AMERICAN JOURNAL OF HUMAN GENETICS. 97(1). p.99-110