A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report

por Scherz, Amina, Stoll, Susanna, Rothlisberger, Benno, Rabaglio, Manuela
Publicado 2023

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

por Strunk, Daniela, Weber, Peter, Röthlisberger, Benno, Filges, Isabel
Publicado 2016

New insights into the performance of human whole-exome capture platforms

por Meienberg, Janine, Zerjavic, Katja, Keller, Irene, Okoniewski, Michal, Patrignani, Andrea, Ludin, Katja, Xu, Zhenyu, Steinmann, Beat, Carrel, Thierry, Röthlisberger, Benno, Schlapbach, Ralph, Bruggmann, Rémy, Matyas, Gabor
Publicado 2015

Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations

por Vogler, Christian, Gschwind, Leo, Röthlisberger, Benno, Huber, Andreas, Filges, Isabel, Miny, Peter, Auschra, Bianca, Stetak, Attila, Demougin, Philippe, Vukojevic, Vanja, Kolassa, Iris-Tatjana, Elbert, Thomas, de Quervain, Dominique J.-F., Papassotiropoulos, Andreas
Publicado 2010

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

por Lindert, Uschi, Cabral, Wayne A., Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M., Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N., Janecke, Andreas R., Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R., Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C., Shotelersuk, Vorasuk
Publicado 2016

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

por Ehret, Julia K., Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Zimmermann, Johannes P., Wohlleber, Eva, Grasshoff, Ute, Rossier, Eva, Bonin, Michael, Mangold, Elisabeth, Bevot, Andrea, Schön, Stefanie, Heilmann-Heimbach, Stefanie, Dennert, Nicola, Mathieu-Dramard, Michèle, Lacaze, Elodie, Plessis, Ghislaine, de Broca, Alain, Jedraszak, Guillaume, Röthlisberger, Benno, Miny, Peter, Filges, Isabel, Dufke, Andreas, Andrieux, Joris, Lee, Jennifer A., Zink, Alexander M.
Publicado 2015

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice

por Ellison, Gillian, Ahdesmäki, Miika, Luke, Sally, Waring, Paul M., Wallace, Andrew, Wright, Ronnie, Röthlisberger, Benno, Ludin, Katja, Merkelbach‐Bruse, Sabine, Heydt, Carina, Ligtenberg, Marjolijn J.L., Mensenkamp, Arjen R., de Castro, David Gonzalez, Jones, Thomas, Vivancos, Ana, Kondrashova, Olga, Pauwels, Patrick, Weyn, Christine, Hahnen, Eric, Hauke, Jan, Soong, Richie, Lai, Zhongwu, Dougherty, Brian, Carr, T. Hedley, Johnson, Justin, Mills, John, Barrett, J. Carl
Publicado 2017