zum Inhalt springen

Publikationen 2015

Daniel Balzani, Simone Deparis, Simon Fausten, Davide Forti, Alexander Heinlein, Axel Klawonn, Alfio Quarteroni, Oliver Rheinbach, Joerg Schröder
Numerical modeling of fluid-structure interaction in arteries with anisotropic polyconvex hyperelastic and anisotropic viscoelastic material models at finite strains
International Journal for Numerical Methods in Biomedical Engineering, Volume 32, Number 10, Pages e02756, Dec 2015
DOI: 10.1002/cnm.2756

Maha S. Zaki, Raoul Heller, Michaela Thoenes, Gudrun Nürnberg, Gabi Stern-Schneider, Peter Nürnberg, Srikanth Karnati, Daniel Swan, Ekram Fateen, Kerstin Nagel-Wolfrum, Mostafa I. Mostafa, Holger Thiele, Uwe Wolfrum, Eveline Baumgart-Vogt, Hanno J. Bolz
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
Human Mutation, Volume 37, Number 2, Pages 170--174, Dec 2015
DOI: 10.1002/humu.22934

Rong Zhang, Holger Thiele, Peter Bartmann, Alina C. Hilger, Christoph Berg, Ulrike Herberg, Dietrich Klingmüller, Peter Nürnberg, Michael Ludwig, Heiko Reutter
Whole-Exome Sequencing in Nine Monozygotic Discordant Twins
Twin Research and Human Genetics, Volume 19, Number 1, Pages 60--65, Dec 2015
DOI: 10.1017/thg.2015.93

Patrick Rabe, Aron Janusko, Prof. Dr. Bernd Goldfuss, Prof. Dr. Jeroen S. Dickschat
Experimental and Theoretical Studies on Corvol Ether Biosynthesis
ChemBioChem, Volume 17, Number 2, Dec 2015
DOI: 10.1002/cbic.201500543

Gökhan Yigit, Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Claudia Möller-Hartmann, Janine Altmüller, Holger Thiele, Peter Nürnberg, Bernd Wollnik
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
American Journal of Medical Genetics Part A, Volume 170, Number 3, Pages 728--733, Dec 2015
DOI: 10.1002/ajmg.a.37484

Yury V. Vishnevskiy, Denis S. Tikhonov, Christian G. Reuter, Norbert W. Mitzel, Drahomír Hnyk, Josef Holub, Derek A. Wann, Paul D. Lane, Raphael J. F. Berger, Stuart A. Hayes
Influence of Antipodally Coupled Iodine and Carbon Atoms on the Cage Structure of 9,12-I2-closo-1,2-C2B10H10: An Electron Diffraction and Computational Study
Inorganic Chemistry, Volume 54, Number 24, Pages 11868--11874, Dec 2015
DOI: 10.1021/acs.inorgchem.5b02102

Kerstin Hallmann, Alexei P. Kudin, Gábor Zsurka, Cornelia Kornblum, Jens Reimann, Burkhard Stüve, Stephan Waltz, Elke Hattingen, Holger Thiele, Peter Nürnberg, Cornelia Rüb, Wolfgang Voos, Jens Kopatz, Harald Neumann, Wolfram S. Kunz
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy
Brain, Volume 139, Number 2, Pages 338--345, Dec 2015
DOI: 10.1093/brain/awv357

Marcus Brauns, Frédéric Muller, Daniel Gülden, Dietrich Böse, Wolfgang Frey, Martin Breugst, Jörg Pietruszka
Enantioselective Catalysts for the Synthesis of α-Substituted Allylboronates-An Accelerated Approach towards Isomerically Pure Homoallylic Alcohols
Angewandte Chemie International Edition, Volume 55, Number 4, Pages 1548--1552, Dec 2015
DOI: 10.1002/anie.201509198

Margaret E Harley, Olga Murina, Andrea Leitch, Martin R Higgs, Louise S Bicknell, Gökhan Yigit, Andrew N Blackford, Anastasia Zlatanou, Karen J Mackenzie, Kaalak Reddy, Mihail Halachev, Sarah McGlasson, Martin A M Reijns, Adeline Fluteau, Carol-Anne Martin, Simone Sabbioneda, Nursel H Elcioglu, Janine Altmüller, Holger Thiele, Lynn Greenhalgh, Luciana Chessa, Mohamad Maghnie, Mahmoud Salim, Michael B Bober, Peter Nürnberg, Stephen P Jackson, Matthew E Hurles, Bernd Wollnik, Grant S Stewart, Andrew P Jackson
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Nature Genetics, Volume 48, Number 1, Pages 36--43, Nov 2015
DOI: 10.1038/ng.3451

Annemarie Hübers, Walter Just, Angela Rosenbohm, Kathrin Müller, Nicolai Marroquin, Ingrid Goebel, Josef Högel, Holger Thiele, Janine Altmüller, Peter Nürnberg, Jochen H. Weishaupt, Christian Kubisch, Albert C. Ludolph, Alexander E. Volk
De novo FUS mutations are the most frequent genetic cause in~early-onset German ALS patients
Neurobiology of Aging, Volume 36, Number 11, Pages 3117.e1--3117.e6, Nov 2015
DOI: 10.1016/j.neurobiolaging.2015.08.005

Sandra Szczepanski, Muhammad Sajid Hussain, Ilknur Sur, Janine Altmüller, Holger Thiele, Uzma Abdullah, Syeda Seema Waseem, Abubakar Moawia, Gudrun Nürnberg, Angelika Anna Noegel, Shahid Mahmood Baig, Peter Nürnberg
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family
Human Genetics, Volume 135, Number 2, Pages 157--170, Nov 2015
DOI: 10.1007/s00439-015-1619-5

S. Moosa, B. H.-Y. Chung, J. Y.-L. Tung, J. Altmüller, H. Thiele, P. Nürnberg, C. Netzer, G. Nishimura, B. Wollnik
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta
Clinical Genetics, Volume 89, Number 4, Pages 517--519, Oct 2015
DOI: 10.1111/cge.12678

Su-Chan Park
Order--disorder transition in the two-dimensional interacting monomer-dimer model: Ising criticality
Journal of Statistical Mechanics: Theory and Experiment, Volume 2015, Number 10, Pages P10009, Oct 2015
DOI: 10.1088/1742-5468/2015/10/p10009

Heike Olbrich, Carolin Cremers, Niki~T. Loges, Claudius Werner, Kim~G. Nielsen, June~K. Marthin, Maria Philipsen, Julia Wallmeier, Petra Pennekamp, Tabea Menchen, Christine Edelbusch, Gerard~W. Dougherty, Oliver Schwartz, Holger Thiele, Janine Altmüller, Frank Rommelmann, Heymut Omran
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
The American Journal of Human Genetics, Volume 97, Number 4, Pages 546--554, Oct 2015
DOI: 10.1016/j.ajhg.2015.08.012

A. Hedergott, A. E. Volk, P. Herkenrath, H. Thiele, J. Fricke, J. Altmüller, P. Nürnberg, C. Kubisch, A. Neugebauer
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature
Graefe's Archive for Clinical and Experimental Ophthalmology, Volume 253, Number 12, Pages 2239--2246, Oct 2015
DOI: 10.1007/s00417-015-3174-0

Martin Peifer, Falk Hertwig, Frederik Roels, Daniel Dreidax, Moritz Gartlgruber, Roopika Menon, Andrea Krämer, Justin L. Roncaioli, Frederik Sand, Johannes M. Heuckmann, Fakhera Ikram, Rene Schmidt, Sandra Ackermann, Anne Engesser, Yvonne Kahlert, Wenzel Vogel, Janine Altmüller, Peter Nürnberg, Jean Thierry-Mieg, Danielle Thierry-Mieg, Aruljothi Mariappan, Stefanie Heynck, Erika Mariotti, Kai-Oliver Henrich, Christian Gloeckner, Graziella Bosco, Ivo Leuschner, Michal R. Schweiger, Larissa Savelyeva, Simon C. Watkins, Chunxuan Shao, Emma Bell, Thomas Höfer, Viktor Achter, Ulrich Lang, Jessica Theissen, Ruth Volland, Maral Saadati, Angelika Eggert, Bram de Wilde, Frank Berthold, Zhiyu Peng, Chen Zhao, Leming Shi, Monika Ortmann, Reinhard Büttner, Sven Perner, Barbara Hero, Alexander Schramm, Johannes H. Schulte, Carl Herrmann, Roderick J. O'Sullivan, Frank Westermann, Roman K. Thomas, Matthias Fischer
Telomerase activation by genomic rearrangements in high-risk neuroblastoma
Nature, Volume 526, Number 7575, Pages 700--704, Oct 2015
DOI: 10.1038/nature14980

Maurizio Alberti, Nikos Irges, Francesco Knechtli, Graham Moir
Five-dimensional Gauge-Higgs Unification: a Standard Model-like Spectrum
Journal of High Energy Physics, Volume 2015, Number 9, Sep 2015
DOI: 10.1007/jhep09(2015)159

Katia Hardies, Carolien G. F. de Kovel, Sarah Weckhuysen, Bob Asselbergh, Thomas Geuens, Tine Deconinck, Abdelkrim Azmi, Patrick May, Eva Brilstra, Felicitas Becker, Nina Barisic, Dana Craiu, Kees P.J. Braun, Dennis Lal, Holger Thiele, Julian Schubert, Yvonne Weber, Ruben van `t Slot, Peter Nürnberg, Rudi Balling, Vincent Timmerman, Holger Lerche, Stuart Maudsley, Ingo Helbig, Arvid Suls, Bobby P.C. Koeleman
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
Brain, Volume 138, Number 11, Pages 3238--3250, Sep 2015
DOI: 10.1093/brain/awv263

YoungKu Kang, Weijie Chen, Martin Breugst, Daniel Seidel
Asymmetric Redox-Annulation of Cyclic Amines
The Journal of Organic Chemistry, Volume 80, Number 19, Pages 9628--9640, Sep 2015
DOI: 10.1021/acs.joc.5b01384

Louise A Stephen, Hasan Tawamie, Gemma M Davis, Lars Tebbe, Peter Nürnberg, Gudrun Nürnberg, Holger Thiele, Michaela Thoenes, Eugen Boltshauser, Steffen Uebe, Oliver Rompel, André Reis, Arif B Ekici, Lynn McTeir, Amy M Fraser, Emma A Hall, Pleasantine Mill, Nicolas Daudet, Courtney Cross, Uwe Wolfrum, Rami Abou Jamra, Megan G Davey, Hanno J Bolz
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
eLife, Volume 4, Sep 2015
DOI: 10.7554/elife.08077

Dennis Lal, Sandra Steinbrücker, Julian Schubert, Thomas Sander, Felicitas Becker, Yvonne Weber, Holger Lerche, Holger Thiele, Roland Krause, Anna-Elina Lehesjoki, Peter Nürnberg, Aarno Palotie, Bernd A. Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingo Helbig, Albert J. Becker, Susanne Schoch, Jörg Hansen, Thomas Dorn, Christin Hohl, Nicole Lüscher, Sarah von Spiczak, Johannes R. Lemke
Investigation of GRIN2A in common epilepsy phenotypes
Epilepsy Research, Volume 115, Pages 95--99, Sep 2015
DOI: 10.1016/j.eplepsyres.2015.05.010

Eva Külshammer, Juliane Mundorf, Merve Kilinc, Peter Frommolt, Prerana Wagle, Mirka Uhlirova
Interplay among Drosophila transcription factors Ets21c, Fos and Ftz-F1 drives JNK-mediated tumor malignancy
Disease Models & Mechanisms, Volume 8, Number 10, Pages 1279--1293, Aug 2015
DOI: 10.1242/dmm.020719

D. Seifried, S. Walch
The impact of turbulence and magnetic field orientation on star-forming filaments
Monthly Notices of the Royal Astronomical Society, Volume 452, Number 3, Pages 2410--2422, Jul 2015
DOI: 10.1093/mnras/stv1458

Prerana Wagle, Miloš Nikolić, Peter Frommolt
QuickNGS elevates Next-Generation Sequencing data analysis to a new level of automation
BMC Genomics, Volume 16, Number 1, Jul 2015
DOI: 10.1186/s12864-015-1695-x

Julie George, Jing Shan Lim, Se Jin Jang, Yupeng Cun, Luka Ozretić, Gu Kong, Frauke Leenders, Xin Lu, Lynnette Fernández-Cuesta, Graziella Bosco, Christian Müller, Ilona Dahmen, Nadine S. Jahchan, Kwon-Sik Park, Dian Yang, Anthony N. Karnezis, Dedeepya Vaka, Angela Torres, Maia Segura Wang, Jan O. Korbel, Roopika Menon, Sung-Min Chun, Deokhoon Kim, Matt Wilkerson, Neil Hayes, David Engelmann, Brigitte Pützer, Marc Bos, Sebastian Michels, Ignacija Vlasic, Danila Seidel, Berit Pinther, Philipp Schaub, Christian Becker, Janine Altmüller, Jun Yokota, Takashi Kohno, Reika Iwakawa, Koji Tsuta, Masayuki Noguchi, Thomas Muley, Hans Hoffmann, Philipp A. Schnabel, Iver Petersen, Yuan Chen, Alex Soltermann, Verena Tischler, Chang-min Choi, Yong-Hee Kim, Pierre P. Massion, Yong Zou, Dragana Jovanovic, Milica Kontic, Gavin M. Wright, Prudence A. Russell, Benjamin Solomon, Ina Koch, Michael Lindner, Lucia A. Muscarella, Annamaria la Torre, John K. Field, Marko Jakopovic, Jelena Knezevic, Esmeralda Castaños-Vélez, Luca Roz, Ugo Pastorino, Odd-Terje Brustugun, Marius Lund-Iversen, Erik Thunnissen, Jens Köhler, Martin Schuler, Johan Botling, Martin Sandelin, Montserrat Sanchez-Cespedes, Helga B. Salvesen, Viktor Achter, Ulrich Lang, Magdalena Bogus, Peter M. Schneider, Thomas Zander, Sascha Ansén, Michael Hallek, Jürgen Wolf, Martin Vingron, Yasushi Yatabe, William D. Travis, Peter Nürnberg, Christian Reinhardt, Sven Perner, Lukas Heukamp, Reinhard Büttner, Stefan A. Haas, Elisabeth Brambilla, Martin Peifer, Julien Sage, Roman K. Thomas
Comprehensive genomic profiles of small cell lung cancer
Nature, Volume 524, Number 7563, Pages 47--53, Jul 2015
DOI: 10.1038/nature14664

Claudia Vollbrecht, Fabian Dominik Mairinger, Ulrike Koitzsch, Martin Peifer, Katharina Koenig, Lukas Carl Heukamp, Giuliano Crispatzu, Laura Wilden, Karl-Anton Kreuzer, Michael Hallek, Margarete Odenthal, Carmen Diana Herling, Reinhard Buettner
Comprehensive Analysis of Disease-Related Genes in Chronic Lymphocytic Leukemia by Multiplex PCR-Based Next Generation Sequencing
PLOS ONE, Volume 10, Number 6, Pages e0129544, Jun 2015
DOI: 10.1371/journal.pone.0129544

Johannes Stephan, Oliver Stegle, Andreas Beyer
A random forest approach to capture genetic effects in the presence of population structure
Nature Communications, Volume 6, Number 1, Jun 2015
DOI: 10.1038/ncomms8432

Benjamin Gollasch, Fitnat Buket Basmanav, Arti Nanda, Günter Fritz, Hassnaa Mahmoudi, Holger Thiele, Maria Wehner, Sabrina Wolf, Janine Altmüller, Peter Nürnberg, Jorge Frank, Regina C. Betz
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes
American Journal of Medical Genetics Part A, Volume 167, Number 11, Pages 2555--2562, Jun 2015
DOI: 10.1002/ajmg.a.37233

Benedikt Waerder, Simon Steinhauer, Julia Bader, Beate Neumann, Hans-Georg Stammler, Yury V. Vishnevskiy, Berthold Hoge, Norbert W. Mitzel
Pentafluoroethyl-substituted α-silanes: model compounds for new insights
Dalton Transactions, Volume 44, Number 29, Pages 13347--13358, Jun 2015
DOI: 10.1039/c5dt02010g

Amit Kawalia, Susanne Motameny, Stephan Wonczak, Holger Thiele, Lech Nieroda, Kamel Jabbari, Stefan Borowski, Vishal Sinha, Wilfried Gunia, Ulrich Lang, Viktor Achter, Peter Nürnberg
Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow
PLOS ONE, Volume 10, Number 5, Pages e0126321, May 2015
DOI: 10.1371/journal.pone.0126321

Maximilian Maahn, Ulrich Löhnert, Pavlos Kollias, Robert C. Jackson, Greg M. McFarquhar
Developing and Evaluating Ice Cloud Parameterizations for Forward Modeling of Radar Moments Using in situ Aircraft Observations
Journal of Atmospheric and Oceanic Technology, Volume 32, Number 5, Pages 880--903, May 2015
DOI: 10.1175/jtech-d-14-00112.1

N. Rosin, N. H. Elcioglu, F. Beleggia, P. Isguven, J. Altmuller, H. Thiele, K. Steindl, P. Joset, A. Rauch, P. Nurnberg, B. Wollnik, G. Yigit
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability
Human Molecular Genetics, Apr 2015
DOI: 10.1093/hmg/ddv115

Birgit S. Budde, Shuji Mizumoto, Ryo Kogawa, Christian Becker, Janine Altmüller, Holger Thiele, Franz Rüschendorf, Mohammad R. Toliat, Gerrit Kaleschke, Johannes M. Hämmerle, Wolfgang Höhne, Kazuyuki Sugahara, Peter Nürnberg, Ingo Kennerknecht
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3
Human Genetics, Volume 134, Number 7, Pages 691--704, Apr 2015
DOI: 10.1007/s00439-015-1549-2

Maria Schumacher, Bernd Goldfuss
Quantifying N-heterocyclic carbenes as umpolung catalysts in the benzoin reaction: balance between nucleophilicity and electrophilicity
New Journal of Chemistry, Volume 39, Number 6, Pages 4508--4518, Mar 2015
DOI: 10.1039/c5nj00413f

Roberto Blanco Trillo, Jörg M Neudörfl, Bernd Goldfuss
An unusually stable chlorophosphite: What makes BIFOP--Cl so robust against hydrolysis?
Beilstein Journal of Organic Chemistry, Volume 11, Pages 313--322, Mar 2015
DOI: 10.3762/bjoc.11.36

Mattia Bruno, Jacob Finkenrath, Francesco Knechtli, Björn Leder, Rainer Sommer
Effects of Heavy Sea Quarks at Low Energies
Physical Review Letters, Volume 114, Number 10, Mar 2015
DOI: 10.1103/physrevlett.114.102001

Joachim Saur, Stefan Duling, Lorenz Roth, Xianzhe Jia, Darrell F. Strobel, Paul D. Feldman, Ulrich R. Christensen, Kurt D. Retherford, Melissa A. McGrath, Fabrizio Musacchio, Alexandre Wennmacher, Fritz M. Neubauer, Sven Simon, Oliver Hartkorn
The search for a subsurface ocean in Ganymede with Hubble Space Telescope observations of its auroral ovals
Journal of Geophysical Research: Space Physics, Volume 120, Number 3, Pages 1715--1737, Mar 2015
DOI: 10.1002/2014ja020778

Elizabeth C. Galizia, Candace T. Myers, Costin Leu, Carolien G. F. de Kovel, Tatiana Afrikanova, Maria Lorena Cordero-Maldonado, Teresa G. Martins, Maxime Jacmin, Suzanne Drury, V. Krishna Chinthapalli, Hiltrud Muhle, Manuela Pendziwiat, Thomas Sander, Ann-Kathrin Ruppert, Rikke S. Møller, Holger Thiele, Roland Krause, Julian Schubert, Anna-Elina Lehesjoki, Peter Nürnberg, Holger Lerche, Aarno Palotie, Antonietta Coppola, Salvatore Striano, Luigi Del Gaudio, Christopher Boustred, Amy L. Schneider, Nicholas Lench, Bosanka Jocic-Jakubi, Athanasios Covanis, Giuseppe Capovilla, Pierangelo Veggiotti, Marta Piccioli, Pasquale Parisi, Laura Cantonetti, Lynette G. Sadleir, Saul A. Mullen, Samuel F. Berkovic, Ulrich Stephani, Ingo Helbig, Alexander D. Crawford, Camila V. Esguerra, Dorothee G. A. Kasteleijn-Nolst Trenité, Bobby P. C. Koeleman, Heather C. Mefford, Ingrid E. Scheffer, Sanjay M. Sisodiya
CHD2variants are a risk factor for photosensitivity in epilepsy
Brain, Volume 138, Number 5, Pages 1198--1208, Mar 2015
DOI: 10.1093/brain/awv052

Eva M. Reinthaler, Borislav Dejanovic, Dennis Lal, Marcus Semtner, Yvonne Merkler, Annika Reinhold, Dorothea A. Pittrich, Christoph Hotzy, Martha Feucht, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Gabriel M. Ronen, Birgit Neophytou, Julia Geldner, Edda Haberlandt, Hiltrud Muhle, M. Arfan Ikram, Cornelia M. van Duijn, Andre G. Uitterlinden, Albert Hofman, Janine Altmüller, Amit Kawalia, Mohammad R. Toliat, Peter Nürnberg, Holger Lerche, Michael Nothnagel, Holger Thiele, Thomas Sander, Jochen C. Meier, Günter Schwarz, Bernd A. Neubauer, Fritz Zimprich
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes
Annals of Neurology, Volume 77, Number 6, Pages 972--986, Mar 2015
DOI: 10.1002/ana.24395

Frank Rutsch, Mary MacDougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian~I. Rice, Heidi Erlandsen, Hans~Gerd Kehl, Holger Thiele, Peter Nürnberg, Wolfgang Höhne, Yanick~J. Crow, Annette Feigenbaum, Raoul~C. Hennekam
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
The American Journal of Human Genetics, Volume 96, Number 2, Pages 275--282, Feb 2015
DOI: 10.1016/j.ajhg.2014.12.014

Aneta Słomka, Barbara Godzik, Grażyna Szarek-Łukaszewska, Lulëzim Shuka, Kerstin Hoef-Emden, Hermann Bothe
Albanian violets of the section Melanium, their morphological variability, genetic similarity and their adaptations to serpentine or chalk soils
Journal of Plant Physiology, Volume 174, Pages 110--123, Feb 2015
DOI: 10.1016/j.jplph.2014.09.010

Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, Martin Ptok, Morag A Lewis, Holger Thiele, Susanne Morlot, Markus M Hess, Andreas Gal, Tobias Eisenberger, Carsten Bergmann, Gudrun Nürnberg, Peter Nürnberg, Karen P Steel, Marlies Knipper, Hanno Bolz
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Orphanet Journal of Rare Diseases, Volume 10, Number 1, Pages 15, Feb 2015
DOI: 10.1186/s13023-015-0238-5

F. Buket Basmanav, Günter Fritz, Gilles G. Lestringant, Divya Pachat, Sabine Hoffjan, Johannes Fischer, Maria Wehner, Sabrina Wolf, Holger Thiele, Janine Altmüller, Susanne A. Pulimood, Arno Rütten, Roland Kruse, Sandra Hanneken, Jorge Frank, Sumita Danda, Anette Bygum, Regina C. Betz
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura
Journal of Investigative Dermatology, Volume 135, Number 2, Pages 615--618, Feb 2015
DOI: 10.1038/jid.2014.406

Naeem Gulzar, Kevin Mark Jones, Hannelore Konnerth, Martin Breugst, Martin Klussmann
Experimental and Computational Studies on the CH Amination Mechanism of Tetrahydrocarbazoles via Hydroperoxides
Chemistry - A European Journal, Volume 21, Number 8, Pages 3367--3376, Jan 2015
DOI: 10.1002/chem.201405376

Isabel Spier, Stefanie Holzapfel, Janine Altmüller, Bixiao Zhao, Sukanya Horpaopan, Stefanie Vogt, Sophia Chen, Monika Morak, Susanne Raeder, Katrin Kayser, Dietlinde Stienen, Ronja Adam, Peter Nürnberg, Guido Plotz, Elke Holinski-Feder, Richard P. Lifton, Holger Thiele, Per Hoffmann, Verena Steinke, Stefan Aretz
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas
International Journal of Cancer, Volume 137, Number 2, Pages 320--331, Jan 2015
DOI: 10.1002/ijc.29396

Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Holger Thiele, Maria Kousi, Francesca Lepri, Larissa Wenzeck, Ian Blumenthal, Antonio Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah J. Morris-Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch
BRF1mutations alter RNA polymerase III--dependent transcription and cause neurodevelopmental anomalies
Genome Research, Volume 25, Number 2, Pages 155--166, Jan 2015
DOI: 10.1101/gr.176925.114

Solaf M. Elsayed, Jennifer B. Phillips, Raoul Heller, Michaela Thoenes, Ezzat Elsobky, Gudrun Nürnberg, Peter Nürnberg, Saskia Seland, Inga Ebermann, Janine Altmüller, Holger Thiele, Mohammad Toliat, Friederike Körber, Xue-Jia Hu, Yun-Dong Wu, Maha S. Zaki, Ghada Abdel-Salam, Joseph Gleeson, Eugen Boltshauser, Monte Westerfield, Hanno J. Bolz
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
Human Molecular Genetics, Volume 24, Number 9, Pages 2594--2603, Jan 2015
DOI: 10.1093/hmg/ddv022