Towards understanding microvillus inclusion disease

by Vogel, Georg F., Hess, Michael W., Pfaller, Kristian, Huber, Lukas A., Janecke, Andreas R., Müller, Thomas
Published 2016

Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3

by Vogel, Georg F., Klee, Katharina M.C., Janecke, Andreas R., Müller, Thomas, Hess, Michael W., Huber, Lukas A.
Published 2015

Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

by Vodopiutz, Julia, Zoller, Heinz, Fenwick, Aimée L., Arnhold, Richard, Schmid, Max, Prayer, Daniela, Müller, Thomas, Repa, Andreas, Pollak, Arnold, Aufricht, Christoph, Wilkie, Andrew O.M., Janecke, Andreas R.
Published 2013

SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients☆

by Papić, Lea, Fischer, Dirk, Trajanoski, Slave, Höftberger, Romana, Fischer, Carina, Ströbel, Thomas, Schmidt, Wolfgang M., Bittner, Reginald E., Schabhüttl, Maria, Gruber, Karin, Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela
Published 2011

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

by Fischer, Carina, Trajanoski, Slave, Papić, Lea, Windpassinger, Christian, Bernert, Günther, Freilinger, Michael, Schabhüttl, Maria, Arslan-Kirchner, Mine, Javaher-Haghighi, Poupak, Plecko, Barbara, Senderek, Jan, Rauscher, Christian, Löscher, Wolfgang N., Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela
Published 2011

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

by Müller, Thomas, Rasool, Insha, Heinz-Erian, Peter, Mildenberger, Eva, Hülstrunk, Christian, Müller, Andreas, Michaud, Laurent, Koot, Bart G P, Ballauff, Antje, Vodopiutz, Julia, Rosipal, Stefan, Petersen, Britt-Sabina, Franke, Andre, Fuchs, Irene, Witt, Heiko, Zoller, Heinz, Janecke, Andreas R, Visweswariah, Sandhya S
Published 2016

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X

by Schulz, Eduard, Klampfl, Petra, Holzapfel, Stefanie, Janecke, Andreas R., Ulz, Peter, Renner, Wilfried, Kashofer, Karl, Nojima, Satoshi, Leitner, Anita, Zebisch, Armin, Wölfler, Albert, Hofer, Sybille, Gerger, Armin, Lax, Sigurd, Beham-Schmid, Christine, Steinke, Verena, Heitzer, Ellen, Geigl, Jochen B., Windpassinger, Christian, Hoefler, Gerald, Speicher, Michael R., Richard Boland, C., Kumanogoh, Atsushi, Sill, Heinz
Published 2014

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

by 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
Published 2016

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

by Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria
Published 2014