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

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Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer von Stoll, Susanna, Unger, Sheila, Azzarello-Burri, Silvia, Chappuis, Pierre, Graffeo, Rossella, Pichert, Gabriella, Roethlisberger, Benno, Taban, Francois, Riniker, Salome

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The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment von Gürtler, Nicolas, Röthlisberger, Benno, Ludin, Katja, Schlegel, Christoph, Lalwani, Anil K

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Microarray-based maps of copy-number variant regions in European and sub-Saharan populations von 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

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

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Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients von Capoluongo, Ettore, Ellison, Gillian, López-Guerrero, José Antonio, Penault-Llorca, Frederique, Ligtenberg, Marjolijn J.L., Banerjee, Susana, Singer, Christian, Friedman, Eitan, Markiefka, Birgid, Schirmacher, Peter, Büttner, Reinhard, van Asperen, Christi J., Ray-Coquard, Isabelle, Endris, Volker, Kamel-Reid, Suzanne, Percival, Natalie, Bryce, Jane, Röthlisberger, Benno, Soong, Richie, de Castro, David Gonzalez

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Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome von Vavassori, Stefano, Galson, Jacob D., Trück, Johannes, van den Berg, Anke, Tamminga, Rienk Y.J., Magerus-Chatinet, Aude, Pellé, Olivier, Camenisch Gross, Ulrike, Marques Maggio, Ewerton, Prader, Seraina, Opitz, Lennart, Nüesch, Ursina, Mauracher, Andrea, Volkmer, Benjamin, Speer, Oliver, Suda, Luzia, Röthlisberger, Benno, Zimmermann, Dieter Robert, Müller, Rouven, Diepstra, Arjan, Visser, Lydia, Haralambieva, Eugenia, Neven, Bénédicte, Rieux-Laucat, Frédéric, Pachlopnik Schmid, Jana

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Abdominal seeding of an atypical teratoid/rhabdoid tumor of the pineal gland along a ventriculoperitoneal shunt catheter von Ingold, Barbara, Moschopulos, Michael, Hutter, Gregor, Seeger, Harald, Röthlisberger, Benno, Landolt, Hans, Yonekawa, Yasuhiro, Jochum, Wolfram, Heppner, Frank L

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

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Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome? von Strunk, Daniela, Weber, Peter, Röthlisberger, Benno, Filges, Isabel

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Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4 von Filges, Isabel, Bischof-Renner, Andrea, Röthlisberger, Benno, Potthoff, Christian, Glanzmann, René, Günthard, Joëlle, Schneider, Jacques, Huber, Andreas R, Zumsteg, Urs, Miny, Peter, Szinnai, Gabor

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Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16 von Toksoy,Güven, Röthlisberger,Benno, Türköver,Bilge, Sayar,Ceyhan, Huber,Andreas R, Miny,Peter

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Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer von Stoll, Susanna, Unger, Sheila, Azzarello-Burri, Silvia, Chappuis, Pierre, Graffeo, Rossella, Pichert, Gabriella, Röthlisberger, Benno, Taban, Francois, Riniker, Salome

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Recurrence risk in de novo structural chromosomal rearrangements von Röthlisberger, Benno, Kotzot, Dieter

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Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype–genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome von Filges, Isabel, Röthlisberger, Benno, Boesch, Nemya, Weber, Peter, Wenzel, Friedel, Huber, Andreas R., Heinimann, Karl, Miny, Peter

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Microdeletion 19p13.2 in an almost 5‐year‐old boy von Haberlandt, Edda, Spreiz, Ana, Sigl, Sara Baumgartner, Janetschek, Carolin, Röthlisberger, Benno, Zotter, Sibylle, Rostasy, Kevin, Zschocke, Johannes, Kotzot, Dieter

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Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array‐CGH study of a benign phenotype in a three‐generation family von Filges, Isabel, Röthlisberger, Benno, Noppen, Christoph, Boesch, Nemya, Wenzel, Friedel, Necker, Judith, Binkert, Franz, Huber, Andreas R., Heinimann, Karl, Miny, Peter

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Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome von Filges, Isabel, Shimojima, Keiko, Okamoto, Nobuhiko, Röthlisberger, Benno, Weber, Peter, Huber, Andreas R, Nishizawa, Tsutomu, Datta, Alexandre N, Miny, Peter, Yamamoto, Toshiyuki

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JAK2 exon 12 mutation in JAK2V617F-negative polycythemia vera von Röthlisberger, Benno, Huber, Andreas, Bargetzi, Mario, Mendez, Adriana, Heizmann, Marc

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Homozygous nonsense mutation in WNT10B and sporadic split‐hand/foot malformation (SHFM) with autosomal recessive inheritance von Blattner, Ariane, Huber, Andreas R., Röthlisberger, Benno

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