2013

Jacob Finkenrath, Francesco Knechtli, Björn Leder
One flavor mass reweighting in lattice QCD
Nuclear Physics B, Volume 877, Number 2, Pages 441--456, Dec 2013
DOI: 10.1016/j.nuclphysb.2013.10.019

Katrin Koehler, Meera Malik, Saqib Mahmood, Sebastian Gießelmann, Christian Beetz, J.~Christopher Hennings, Antje~K. Huebner, Ammi Grahn, Janine Reunert, Gudrun Nürnberg, Holger Thiele, Janine Altmüller, Peter Nürnberg, Rizwan Mumtaz, Dusica Babovic-Vuksanovic, Lina Basel-Vanagaite, Guntram Borck, Jürgen Brämswig, Reinhard Mühlenberg, Pierre Sarda, Alma Sikiric, Kwame Anyane-Yeboa, Avraham Zeharia, Arsalan Ahmad, Christine Coubes, Yoshinao Wada, Thorsten Marquardt, Dieter Vanderschaeghe, Emile Van~Schaftingen, Ingo Kurth, Angela Huebner, Christian~A. Hübner
Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction
The American Journal of Human Genetics, Volume 93, Number 4, Pages 727--734, Oct 2013
DOI: 10.1016/j.ajhg.2013.08.002

Jan Hauke, Andrea Schild, Antje Neugebauer, Alexandra Lappa, Julia Fricke, Sascha Fauser, Stefanie Rösler, Andrea Pannes, Dirk Zarrinnam, Janine Altmüller, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Eric Hahnen, Bodo B. Beck
A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype
PLoS ONE, Volume 8, Number 10, Pages e76414, Oct 2013
DOI: 10.1371/journal.pone.0076414

Danila Seidel, Thomas Zander, Lukas C Heukamp, Martin Peifer, Marc Bos, Lynnette Fernández-Cuesta, Frauke Leenders, Xin Lu et al
A Genomics-Based Classification of Human Lung Tumors
Science Translational Medicine, Volume 5, Number 209, Pages 209ra153--209ra153, Oct 2013
DOI: 10.1126/scitranslmed.3006802

Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer
RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy
PLoS ONE, Volume 8, Number 9, Pages e73323, Sep 2013
DOI: 10.1371/journal.pone.0073323

Enrico Leipold, Lutz Liebmann, G Christoph Korenke, Theresa Heinrich, Sebastian Gießelmann, Jonathan Baets, Matthias Ebbinghaus, R Oliver Goral, Tommy Stödberg, J Christopher Hennings, Markus Bergmann, Janine Altmüller, Holger Thiele, Andrea Wetzel, Peter Nürnberg, Vincent Timmerman, Peter De Jonghe, Robert Blum, Hans-Georg Schaible, Joachim Weis, Stefan H Heinemann, Christian A Hübner, Ingo Kurth
A de novo gain-of-function mutation in SCN11A causes loss of pain perception
Nature Genetics, Volume 45, Number 11, Pages 1399--1404, Sep 2013
DOI: 10.1038/ng.2767

Katja-Martina Eckl, Rotem Tidhar, Holger Thiele, Vinzenz Oji, Ingrid Hausser, Susanne Brodesser, Marie-Luise Preil, Aysel Önal-Akan, Friedrich Stock, Dietmar Müller, Kerstin Becker, Ramona Casper, Gudrun Nürnberg, Janine Altmüller, Peter Nürnberg, Heiko Traupe, Anthony H. Futerman, Hans C. Hennies
Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length
Journal of Investigative Dermatology, Volume 133, Number 9, Pages 2202--2211, Sep 2013
DOI: 10.1038/jid.2013.153

Lina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspall-Chaure, Naseebullah Kakar, Pola Smirin-Yosef, Marta Vila-Pueyo, Liora Kornreich, Holger Thiele, Harald Bode, Irina Lagovsky, Dvir Dahary, Ami Haviv, Monika~Weisz Hubshman, Metsada Pasmanik-Chor, Peter Nürnberg, Doron Gothelf, Christian Kubisch, Mordechai Shohat, Alfons Macaya, Guntram Borck
Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
The American Journal of Human Genetics, Volume 93, Number 3, Pages 524--529, Sep 2013
DOI: 10.1016/j.ajhg.2013.07.005

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller, Yasemin Alanay, Hülya Kayserili, Ludger Klein-Hitpass, Stefan Böhringer, Andreas Wollstein, Beate Albrecht, Koray Boduroglu, Almuth Caliebe, Krystyna Chrzanowska, Ozgur Cogulu, Francesca Cristofoli, Johanna Christina Czeschik, Koenraad Devriendt, Maria Teresa Dotti, Nursel Elcioglu, Blanca Gener, Timm O. Goecke, Małgorzata Krajewska-Walasek, Encarnación Guillén-Navarro, Joussef Hayek, Gunnar Houge, Esra Kilic, Pelin Özlem Simsek-Kiper, Vanesa López-González, Alma Kuechler, Stanislas Lyonnet, Francesca Mari, Annabella Marozza, Michèle Mathieu Dramard, Barbara Mikat, Gilles Morin, Fanny Morice-Picard, Ferda Özkinay, Anita Rauch, Alessandra Renieri, Sigrid Tinschert, G. Eda Utine, Catheline Vilain, Rossella Vivarelli, Christiane Zweier, Peter Nürnberg, Sven Rahmann, Joris Vermeesch, Hermann-Josef Lüdecke, Michael Zeschnigk, Bernd Wollnik
A comprehensive molecular study on Coffin--Siris and Nicolaides--Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Human Molecular Genetics, Volume 22, Number 25, Pages 5121--5135, Aug 2013
DOI: 10.1093/hmg/ddt366

Muhammad S. Hussain, Shahid M. Baig, Sascha Neumann, Vivek S. Peche, Sandra Szczepanski, Gudrun Nürnberg, Muhammad Tariq, Muhammad Jameel, Tahir N. Khan, Ambrin Fatima, Naveed A. Malik, Ilyas Ahmad, Janine Altmüller, Peter Frommolt, Holger Thiele, Wolfgang Höhne, Gökhan Yigit, Bernd Wollnik, Bernd A. Neubauer, Peter Nürnberg, Angelika A. Noegel
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
Human Molecular Genetics, Volume 22, Number 25, Pages 5199--5214, Aug 2013
DOI: 10.1093/hmg/ddt374

Johannes R Lemke, Dennis Lal, Eva M Reinthaler, Isabelle Steiner, Michael Nothnagel, Michael Alber, Kirsten Geider, Bodo Laube, Michael Schwake, Katrin Finsterwalder, Andre Franke, Markus Schilhabel, Johanna A Jähn, Hiltrud Muhle, Rainer Boor, Wim Van Paesschen, Roberto Caraballo, Natalio Fejerman, Sarah Weckhuysen, Peter De Jonghe, Jan Larsen, Rikke S Møller, Helle Hjalgrim, Laura Addis, Shan Tang, Elaine Hughes, Deb K Pal, Kadi Veri, Ulvi Vaher, Tiina Talvik, Petia Dimova, Rosa Guerrero López, José M Serratosa, Tarja Linnankivi, Anna-Elina Lehesjoki, Susanne Ruf, Markus Wolff, Sarah Buerki, Gabriele Wohlrab, Judith Kroell, Alexandre N Datta, Barbara Fiedler, Gerhard Kurlemann, Gerhard Kluger, Andreas Hahn, D Edda Haberlandt, Christina Kutzer, Jürgen Sperner, Felicitas Becker, Yvonne G Weber, Martha Feucht, Hannelore Steinböck, Birgit Neophythou, Gabriel M Ronen, Ursula Gruber-Sedlmayr, Julia Geldner, Robert J Harvey, Per Hoffmann, Stefan Herms, Janine Altmüller, Mohammad R Toliat, Holger Thiele, Peter Nürnberg, Christian Wilhelm, Ulrich Stephani, Ingo Helbig, Holger Lerche, Fritz Zimprich, Bernd A Neubauer, Saskia Biskup, Sarah von Spiczak
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Nature Genetics, Volume 45, Number 9, Pages 1067--1072, Aug 2013
DOI: 10.1038/ng.2728

Nina Bögershausen, Nassim Shahrzad, Jessica~X. Chong, Jürgen-Christoph von~Kleist-Retzow, Daniela Stanga, Yun Li, Francois~P. Bernier, Catrina~M. Loucks, Radu Wirth, Eric~G. Puffenberger, Robert~A. Hegele, Julia Schreml, Gabriel Lapointe, Katharina Keupp, Christopher~L. Brett, Rebecca Anderson, Andreas Hahn, A.~Micheil Innes, Oksana Suchowersky, Marilyn~B. Mets, Gudrun Nürnberg, D.~Ross McLeod, Holger Thiele, Darrel Waggoner, Janine Altmüller, Kym~M. Boycott, Benedikt Schoser, Peter Nürnberg, Carole Ober, Raoul Heller, Jillian~S. Parboosingh, Bernd Wollnik, Michael Sacher, Ryan~E. Lamont
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
The American Journal of Human Genetics, Volume 93, Number 1, Pages 181--190, Jul 2013
DOI: 10.1016/j.ajhg.2013.05.028

Axel G. Griesbeck, Bernd Goldfuss, Matthias Leven, Alan de Kiff
Comparison of the singlet oxygen ene reactions of cyclic versus acyclic β,γ-unsaturated ketones: an experimental and computational study
Tetrahedron Letters, Volume 54, Number 23, Pages 2938--2941, Jun 2013
DOI: 10.1016/j.tetlet.2013.03.099

Beenish Arif, Kishore R. Kumar, Philip Seibler, Franca Vulinovic, Amara Fatima, Susen Winkler, Gudrun Nürnberg, Holger Thiele, Peter Nürnberg, Ahmad Zeeshan Jamil, Anne Brüggemann, Ghazanfar Abbas, Christine Klein, Sadaf Naz, Katja Lohmann
A Novel OPA3 Mutation Revealed by Exome Sequencing
JAMA Neurology, Volume 70, Number 6, Pages 783, Jun 2013
DOI: 10.1001/jamaneurol.2013.1174

E. Chané, J. Saur, S. Poedts
Modeling Jupiter's magnetosphere: Influence of the internal sources
Journal of Geophysical Research: Space Physics, Volume 118, Number 5, Pages 2157--2172, May 2013
DOI: 10.1002/jgra.50258

J. Saur, T. Grambusch, S. Duling, F. M. Neubauer, S. Simon
Magnetic energy fluxes in sub-Alfvénic planet star and moon planet interactions
Astronomy & Astrophysics, Volume 552, Pages A119, Apr 2013
DOI: 10.1051/0004-6361/201118179

Rita-Eva Varga, Rebecca Schüle, Hicham Fadel, Irene Valenzuela, Fiorella Speziani, Michael Gonzalez, Galina Rudenskaia, Gudrun Nürnberg, Holger Thiele, Janine Altmüller, Victoria Alvarez, Josep Gamez, James Y. Garbern, Peter Nürnberg, Stephan Zuchner, Christian Beetz
Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia
Human Mutation, Volume 34, Number 6, Pages 860--863, Apr 2013
DOI: 10.1002/humu.22309

Mathieu Lemaire, Véronique Frémeaux-Bacchi, Franz Schaefer, Murim Choi, Wai Ho Tang, Moglie Le Quintrec, Fadi Fakhouri, Sophie Taque, François Nobili, Frank Martinez, Weizhen Ji, John D Overton, Shrikant M Mane, Gudrun Nürnberg, Janine Altmüller, Holger Thiele, Denis Morin, Georges Deschenes, Véronique Baudouin, Brigitte Llanas, Laure Collard, Mohammed A Majid, Eva Simkova, Peter Nürnberg, Nathalie Rioux-Leclerc, Gilbert W Moeckel, Marie Claire Gubler, John Hwa, Chantal Loirat, Richard P Lifton
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Nature Genetics, Volume 45, Number 5, Pages 531--536, Mar 2013
DOI: 10.1038/ng.2590

C. Beetz, A. Johnson, A. L. Schuh, S. Thakur, R.-E. Varga, T. Fothergill, N. Hertel, E. Bomba-Warczak, H. Thiele, G. Nurnberg, J. Altmuller, R. Saxena, E. R. Chapman, E. W. Dent, P. Nurnberg, A. Audhya
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure
Proceedings of the National Academy of Sciences, Volume 110, Number 13, Pages 5091--5096, Mar 2013
DOI: 10.1073/pnas.1217197110

Ulrich K. Deiters
Efficient Coding of the Minimum Image Convention
Zeitschrift für Physikalische Chemie, Volume 227, Number 2-3, Pages 345--352, Mar 2013
DOI: 10.1524/zpch.2013.0311

Matthias Leven, Jörg M Neudörfl, Bernd Goldfuss
Metal-mediated aminocatalysis provides mild conditions: Enantioselective Michael addition mediated by primary amino catalysts and alkali-metal ions
Beilstein Journal of Organic Chemistry, Volume 9, Pages 155--165, Jan 2013
DOI: 10.3762/bjoc.9.18

Dennis Lal, Kerstin Becker, Susanne Motameny, Janine Altmüller, Holger Thiele, Peter Nürnberg, Uwe Ahting, Boris Rolinski, Bernd A. Neubauer, Andreas Hahn
Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis
neurogenetics, Volume 14, Number 1, Pages 85--87, Jan 2013
DOI: 10.1007/s10048-013-0355-z

Mina Kim, Su-Chan Park, Jae Dong Noh
Coarsening dynamics of nonequilibrium chiral Ising models
Physical Review E, Volume 87, Number 1, Jan 2013
DOI: 10.1103/physreve.87.012129