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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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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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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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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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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Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH von Blattner, Ariane, Brunner-Agten, Saskia, Ludin, Katja, Hergersberg, Martin, Herklotz, Roberto, Huber, Andreas R., Röthlisberger, Benno

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High-Resolution Breakpoint Analysis Provides Evidence for the Sequence-Directed Nature of Genome Rearrangements in Hereditary Disorders von Kovac, Michal B., Kovacova, Monika, Bachraty, Hynek, Bachrata, Katarina, Piscuoglio, Salvatore, Hutter, Pierre, Ilencikova, Denisa, Bartosova, Zdena, Tomlinson, Ian, Roethlisberger, Benno, Heinimann, Karl

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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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Deletion of 7q11.21‐q11.23 and infantile spasms without deletion of MAGI2 von Röthlisberger, Benno, Hoigné, Irène, Huber, Andreas R., Brunschwiler, Wolfgang, Capone Mori, Andrea

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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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High resolution array in the clinical approach to chromosomal phenotypes von Filges, Isabel, Suda, Luzia, Weber, Peter, Datta, Alexandre N., Fischer, Dirk, Dill, Patricia, Glanzmann, Réné, Benzing, Jörg, Hegi, Lukas, Wenzel, Friedel, Huber, Andreas R., Mori, Andrea Capone, Miny, Peter, Röthlisberger, Benno

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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? von 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

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Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8 von Filges, Isabel, Röthlisberger, Benno, Wenzel, Friedel, Heinimann, Karl, Huber, Andreas R., Miny, Peter

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Overexpression of EVI1 in Translocation t(3;8)(q26;q24) in a Patient with Trilineage AML von Wernli, Martin, Fernandez, Paula C., Roethlisberger, Benno, Heijnen, Ingmar, Burger, Johanna, Muehlematter, Dominique, Jotterand, Martine, Huber, Andreas R., Bargetzi, Mario J.

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Quantitative Monitoring of BCR - ABL Transcript - Suggestion of a Simplified Approach Considering Inaccuracy of Measurement and Calibration von Röthlisberger, Benno, Herklotz, Roberto, Hergersberg, Martin, Stricker, Christian, Bargetzi, Mario, Huber, Andreas R

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A new molecular approach to investigate origin and formation of structural chromosome aberrations von Röthlisberger, B, Schinzel, A, Kotzot, D

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TRIB1 overexpression in acute myeloid leukemia von Röthlisberger, Benno, Heizmann, Marc, Bargetzi, Mario J, Huber, Andreas R

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Urolithiasis im Kindesalter von Barbey, Florence, Meister, Marc, Röthlisberger, Benno, Neuhaus, Thomas J.

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