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Publikationen 2014

Karlheinz Sünkel, Stefan Weigand, Alexander Hoffmann, Sebastian Blomeyer, Christian G. Reuter, Yury V. Vishnevskiy, Norbert W. Mitzel
Synthesis and Characterization of 1,2,3,4,5-Pentafluoroferrocene
Journal of the American Chemical Society, Volume 137, Number 1, Pages 126--129, Dec 2014
DOI: 10.1021/ja511588p

Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina~G. Kant, Zornitza Stark, Valérie Cormier-Daire, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer-Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Celine Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter~M. Krawitz, Peter Nürnberg, Reiner Siebert, Hermann Manzke, Stefan Mundlos
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
The American Journal of Human Genetics, Volume 95, Number 6, Pages 763--770, Dec 2014
DOI: 10.1016/j.ajhg.2014.11.004

Sarah Diermeier, Petros Kolovos, Leonhard Heizinger, Uwe Schwartz, Theodore Georgomanolis, Anne Zirkel, Gero Wedemann, Frank Grosveld, Tobias A Knoch, Rainer Merkl, Peter R Cook, Gernot Längst, Argyris Papantonis
TNFα signalling primes chromatin for NF-κB binding and induces rapid and widespread nucleosome repositioning
Genome Biology, Volume 15, Number 12, Dec 2014
DOI: 10.1186/s13059-014-0536-6

Su-Chan Park
Critical decay exponent of the pair contact process with diffusion
Physical Review E, Volume 90, Number 5, Nov 2014
DOI: 10.1103/physreve.90.052115

Mathieu Clément-Ziza, Francesc X Marsellach, Sandra Codlin, Manos A Papadakis, Susanne Reinhardt, María Rodríguez-López, Stuart Martin, Samuel Marguerat, Alexander Schmidt, Eunhye Lee, Christopher T Workman, Jürg Bähler, Andreas Beyer
Natural genetic variation impacts expression levels of coding, non-coding, and antisense transcripts in fission yeast
Molecular Systems Biology, Volume 10, Number 11, Pages 764, Nov 2014
DOI: 10.15252/msb.20145123

Julian Schubert,, Aleksandra Siekierska, Mélanie Langlois, Patrick May, Clément Huneau, Felicitas Becker, Hiltrud Muhle, Arvid Suls, Johannes R Lemke, Carolien G F de Kovel, Holger Thiele, Kathryn Konrad, Amit Kawalia, Mohammad R Toliat, Thomas Sander, Franz Rüschendorf, Almuth Caliebe, Inga Nagel, Bernard Kohl, Angela Kecskés, Maxime Jacmin, Katia Hardies, Sarah Weckhuysen, Erik Riesch, Thomas Dorn, Eva H Brilstra, Stephanie Baulac, Rikke S Møller, Helle Hjalgrim, Bobby P C Koeleman, Karin Jurkat-Rott, Frank Lehmann-Horn, Jared C Roach, Gustavo Glusman, Leroy Hood, David J Galas, Benoit Martin, Peter A M de Witte, Saskia Biskup, Peter De Jonghe, Ingo Helbig, Rudi Balling, Peter Nürnberg, Alexander D Crawford, Camila V Esguerra, Yvonne G Weber, Holger Lerche
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Nature Genetics, Volume 46, Number 12, Pages 1327--1332, Nov 2014
DOI: 10.1038/ng.3130

Muhammad~Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad~Reza Toliat, Shin-ichi Sakakibara, Janine Altmüller, Holger Thiele, Gudrun Nürnberg, Shahida Moosa, Gökhan Yigit, Filippo Beleggia, Sigrid Tinschert, Jill Clayton-Smith, Pradeep Vasudevan, Jill~E. Urquhart, Dian Donnai, Alan Fryer, Ferda Percin, Francesco Brancati, Angus Dobbie, Robert Śmigiel, Gabriele Gillessen-Kaesbach, Bernd Wollnik, Angelika~Anna Noegel, William~G. Newman, Peter Nürnberg
Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
The American Journal of Human Genetics, Volume 95, Number 5, Pages 622--632, Nov 2014
DOI: 10.1016/j.ajhg.2014.10.008

Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, Muhammad Sajid Hussain, Louise S Bicknell, Andrea Leitch, Gudrun Nürnberg, Mohammad Reza Toliat, Jennie E Murray, David Hunt, Fawad Khan, Zafar Ali, Sigrid Tinschert, James Ding, Charlotte Keith, Margaret E Harley, Patricia Heyn, Rolf Müller, Ingrid Hoffmann, Valérie Cormier Daire, Hélène Dollfus, Lucie Dupuis, Anu Bashamboo, Kenneth McElreavey, Ariana Kariminejad, Roberto Mendoza-Londono, Anthony T Moore, Anand Saggar, Catie Schlechter, Richard Weleber, Holger Thiele, Janine Altmüller, Wolfgang Höhne, Matthew E Hurles, Angelika Anna Noegel, Shahid Mahmood Baig, Peter Nürnberg, Andrew P Jackson
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Nature Genetics, Volume 46, Number 12, Pages 1283--1292, Oct 2014
DOI: 10.1038/ng.3122

K. Hallmann, G. Zsurka, S. Moskau-Hartmann, J. Kirschner, R. Korinthenberg, A.-K. Ruppert, O. Ozdemir, Y. Weber, F. Becker, H. Lerche, C. E. Elger, H. Thiele, P. Nurnberg, T. Sander, W. S. Kunz
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
Neurology, Volume 83, Number 23, Pages 2183--2187, Oct 2014
DOI: 10.1212/wnl.0000000000001055

Davor Lessel, Bruno Vaz, Swagata Halder, Paul J Lockhart, Ivana Marinovic-Terzic, Jaime Lopez-Mosqueda, Melanie Philipp, Joe C H Sim, Katherine R Smith, Judith Oehler, Elisa Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J Leventer, Martin B Delatycki, Gotthold Barbi, Simon von Ameln, Josef Högel, Marina Degoricija, Regina Fertig, Martin D Burkhalter, Kay Hofmann, Holger Thiele, Janine Altmüller, Gudrun Nürnberg, Peter Nürnberg, Melanie Bahlo, George M Martin, Cora M Aalfs, Junko Oshima, Janos Terzic, David J Amor, Ivan Dikic, Kristijan Ramadan, Christian Kubisch
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Nature Genetics, Volume 46, Number 11, Pages 1239--1244, Sep 2014
DOI: 10.1038/ng.3103

Sukanya Horpaopan, Isabel Spier, Alexander M. Zink, Janine Altmüller, Stefanie Holzapfel, Andreas Laner, Stefanie Vogt, Siegfried Uhlhaas, Stefanie Heilmann, Dietlinde Stienen, Sandra M. Pasternack, Kathleen Keppler, Ronja Adam, Katrin Kayser, Susanne Moebus, Markus Draaken, Franziska Degenhardt, Hartmut Engels, Andrea Hofmann, Markus M. Nöthen, Verena Steinke, Alberto Perez-Bouza, Stefan Herms, Elke Holinski-Feder, Holger Fröhlich, Holger Thiele, Per Hoffmann, Stefan Aretz
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis
International Journal of Cancer, Volume 136, Number 6, Pages E578--E589, Sep 2014
DOI: 10.1002/ijc.29215

Bodo B. Beck, Jennifer B. Phillips, Malte P. Bartram, Jeremy Wegner, Michaela Thoenes, Andrea Pannes, Josephina Sampson, Raoul Heller, Heike Göbel, Friederike Koerber, Antje Neugebauer, Andrea Hedergott, Gudrun Nürnberg, Peter Nürnberg, Holger Thiele, Janine Altmüller, Mohammad R. Toliat, Simon Staubach, Kym M. Boycott, Enza Maria Valente, Andreas R. Janecke, Tobias Eisenberger, Carsten Bergmann, Lars Tebbe, Yang Wang, Yundong Wu, Andrew M. Fry, Monte Westerfield, Uwe Wolfrum, Hanno J. Bolz
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy
Human Mutation, Volume 35, Number 10, Pages 1153--1162, Aug 2014
DOI: 10.1002/humu.22618

Davor Lessel, Bidisha Saha, Fuki Hisama, Bahar Kaymakamzade, Gulay Nurlu, Yasemin Gursoy-Özdemir, Holger Thiele, Peter Nürnberg, George M. Martin, Christian Kubisch, Junko Oshima
Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier?
American Journal of Medical Genetics Part A, Volume 164, Number 10, Pages 2510--2513, Jul 2014
DOI: 10.1002/ajmg.a.36664

Helge Klare, Sebastian Hanft, Jörg M. Neudörfl, Nils E. Schlörer, Axel Griesbeck, Bernd Goldfuss
Anion Recognition with Hydrogen-Bonding Cyclodiphosphazanes
Chemistry - A European Journal, Volume 20, Number 37, Pages 11847--11855, Jul 2014
DOI: 10.1002/chem.201403013

Eva M. Reinthaler, Dennis Lal, Wiktor Jurkowski, Martha Feucht, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Gabriel M. Ronen, Julia Geldner, Edda Haberlandt, Birgit Neophytou, Andreas Hahn, Janine Altmüller, Holger Thiele, Mohammad R. Toliat, Holger Lerche, Peter Nürnberg, Thomas Sander, Bernd A. Neubauer, Fritz Zimprich
Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy
Epilepsia, Volume 55, Number 8, Pages e89--e93, Jul 2014
DOI: 10.1111/epi.12712

Stefan Duling, Joachim Saur, Johannes Wicht
Consistent boundary conditions at nonconducting surfaces of planetary bodies: Applications in a new Ganymede MHD model
Journal of Geophysical Research: Space Physics, Volume 119, Number 6, Pages 4412--4440, Jun 2014
DOI: 10.1002/2013ja019554

Muzammil A. Khan, Verena M. Rupp, Meritxell Orpinell, Muhammad S. Hussain, Janine Altmüller, Michel O. Steinmetz, Christian Enzinger, Holger Thiele, Wolfgang Höhne, Gudrun Nürnberg, Shahid M. Baig, Muhammad Ansar, Peter Nürnberg, John B. Vincent, Michael R. Speicher, Pierre Gönczy, Christian Windpassinger
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
Human Molecular Genetics, Volume 23, Number 22, Pages 5940--5949, Jun 2014
DOI: 10.1093/hmg/ddu318

Nikos Irges, Francesco Knechtli
Non-perturbative gauge-Higgs unification: symmetries and order parameters
Journal of High Energy Physics, Volume 2014, Number 6, Jun 2014
DOI: 10.1007/jhep06(2014)070

Dennis Lal, Eva M. Reinthaler, Julian Schubert, Hiltrud Muhle, Erik Riesch, Gerhard Kluger, Kamel Jabbari, Amit Kawalia, Christine Bäumel, Hans Holthausen, Andreas Hahn, Martha Feucht, Birgit Neophytou, Edda Haberlandt, Felicitas Becker, Janine Altmüller, Holger Thiele, Johannes R. Lemke, Holger Lerche, Peter Nürnberg, Thomas Sander, Yvonne Weber, Fritz Zimprich, Bernd A. Neubauer
DEPDC5mutations in genetic focal epilepsies of childhood
Annals of Neurology, Volume 75, Number 5, Pages 788--792, Apr 2014
DOI: 10.1002/ana.24127

Kerstin Hoef-Emden
Osmotolerance in the Cryptophyceae: Jacks-of-all-trades in the Chroomonas Clade
Protist, Volume 165, Number 2, Pages 123--143, Mar 2014
DOI: 10.1016/j.protis.2014.01.001

Lynnette Fernandez-Cuesta, Martin Peifer, Xin Lu, Ruping Sun, Luka Ozretić, Danila Seidel, Thomas Zander, Frauke Leenders, Julie George, Christian Müller, Ilona Dahmen, Berit Pinther, Graziella Bosco, Kathryn Konrad, Janine Altmüller, Peter Nürnberg, Viktor Achter, Ulrich Lang, Peter M. Schneider, Magdalena Bogus, Alex Soltermann, Odd Terje Brustugun, Åslaug Helland, Steinar Solberg, Marius Lund-Iversen, Sascha Ansén, Erich Stoelben, Gavin M. Wright, Prudence Russell, Zoe Wainer, Benjamin Solomon, John K. Field, Russell Hyde, Michael P. A. Davies, Lukas C. Heukamp, Iver Petersen, Sven Perner, Christine M. Lovly, Federico Cappuzzo, William D. Travis, Jürgen Wolf, Martin Vingron, Elisabeth Brambilla, Stefan A. Haas, Reinhard Buettner, Roman K. Thomas
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids
Nature Communications, Volume 5, Number 1, Mar 2014
DOI: 10.1038/ncomms4518

Angelika Eske, Bernd Goldfuss, Axel G. Griesbeck, Alan de Kiff, Margarethe Kleczka, Matthias Leven, Jörg-M. Neudörfl, Moritz Vollmer
Ene--Diene Transmissive Cycloaddition Reactions with Singlet Oxygen: The Vinylogous Gem Effect and Its Use for Polyoxyfunctionalization of Dienes
The Journal of Organic Chemistry, Volume 79, Number 4, Pages 1818--1829, Feb 2014
DOI: 10.1021/jo5000434

F.~Buket Basmanav, Ana-Maria Oprisoreanu, Sandra~M. Pasternack, Holger Thiele, Günter Fritz, Jörg Wenzel, Leopold Größer, Maria Wehner, Sabrina Wolf, Christina Fagerberg, Anette Bygum, Janine Altmüller, Arno Rütten, Laurent Parmentier, Laila El~Shabrawi-Caelen, Christian Hafner, Peter Nürnberg, Roland Kruse, Susanne Schoch, Sandra Hanneken, Regina~C. Betz
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
The American Journal of Human Genetics, Volume 94, Number 1, Pages 135--143, Jan 2014
DOI: 10.1016/j.ajhg.2013.12.003

Maria Schumacher, Bernd Goldfuss
Metallo phosphonate catalyzed benzoin couplings: the influence of the counterion
New Journal of Chemistry, Volume 38, Number 3, Pages 1040, Jan 2014
DOI: 10.1039/c3nj01045g

Helge Klare, Jörg M Neudörfl, Bernd Goldfuss
New hydrogen-bonding organocatalysts: Chiral cyclophosphazanes and phosphorus amides as catalysts for asymmetric Michael additions
Beilstein Journal of Organic Chemistry, Volume 10, Pages 224--236, Jan 2014
DOI: 10.3762/bjoc.10.18