2017

Franziska Kause, Heiko Reutter, Florian Marsch, Holger Thiele, Janine Altmüller, Michael Ludwig, Rong Zhang
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?
Molecular Medicine Reports, Dec 2017
DOI: 10.3892/mmr.2017.8196

Angela Metz, Paul McKeown, Bastian Esser, Clara Gohlke, Konstantin Kröckert, Larissa Laurini, Michael Scheckenbach, Strachan N. McCormick, Michaela Oswald, Alexander Hoffmann, Matthew D. Jones, Sonja Herres-Pawlis
ZnII Chlorido Complexes with Aliphatic, Chiral Bisguanidine Ligands as Catalysts in the Ring-Opening Polymerisation of rac -Lactide Using FT-IR Spectroscopy in Bulk
European Journal of Inorganic Chemistry, Volume 2017, Number 47, Pages 5557--5570, Dec 2017
DOI: 10.1002/ejic.201701147

Martin Breugst, Daniel von der Heiden, Eric Detmar, Robert Kuchta
Activation of Michael Acceptors by Halogen-Bond Donors
Synlett, Volume 29, Number 10, Pages 1307--1313, Dec 2017
DOI: 10.1055/s-0036-1591841

Friederike Flachsbart, Janina Dose, Liljana Gentschew, Claudia Geismann, Amke Caliebe, Carolin Knecht, Marianne Nygaard, Nandini Badarinarayan, Abdou ElSharawy, Sandra May, Anne Luzius, Guillermo G. Torres, Marlene Jentzsch, Michael Forster, Robert Häsler, Kathrin Pallauf, Wolfgang Lieb, Céline Derbois, Pilar Galan, Dmitriy Drichel, Alexander Arlt, Andreas Till, Ben Krause-Kyora, Gerald Rimbach, Hélène Blanché, Jean-François Deleuze, Lene Christiansen, Kaare Christensen, Michael Nothnagel, Philip Rosenstiel, Stefan Schreiber, Andre Franke, Susanne Sebens, Almut Nebel
Identification and characterization of two functional variants in the human longevity gene FOXO3
Nature Communications, Volume 8, Number 1, Dec 2017
DOI: 10.1038/s41467-017-02183-y

Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl, Isabel Spier, Stefan Aretz
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)
Hereditary Cancer in Clinical Practice, Volume 15, Number 1, Nov 2017
DOI: 10.1186/s13053-017-0082-9

Melody Li, Snezana Maljevic, A. Marie Phillips, Slave Petrovski, Michael S. Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schubert, Holger Thiele, Peter Nürnberg, Michael Wong, Judith L. Weisenberg, Liu Lin Thio, Holger Lerche, Ingrid E. Scheffer, Samuel F. Berkovic, Steven Petrou, Christopher A. Reid
Gain-of-function HCN2 variants in genetic epilepsy
Human Mutation, Volume 39, Number 2, Pages 202--209, Nov 2017
DOI: 10.1002/humu.23357

Oliver Hartkorn, Joachim Saur
Induction signals from Callisto's ionosphere and their implications on a possible subsurface ocean
Journal of Geophysical Research: Space Physics, Volume 122, Number 11, Pages 11,677--11,697, Nov 2017
DOI: 10.1002/2017ja024269

Angela Metz, Joshua Heck, Clara Gohlke, Konstantin Kröckert, Yannik Louven, Paul McKeown, Alexander Hoffmann, Matthew Jones, Sonja Herres-Pawlis
Reactivity of Zinc Halide Complexes Containing Camphor-Derived Guanidine Ligands with Technical rac-Lactide
Inorganics, Volume 5, Number 4, Pages 85, Nov 2017
DOI: 10.3390/inorganics5040085

D.J. Ralser, G.G. Lestringant, A. Du-Thanh, P. Kokordelis, J. Fischer, F.B.Ünalan Basmanav, S. Wolf, H. Thiele, J. Altmüller, P. Nürnberg, V. Oji, G. Fritz, J. Frank, R.C. Betz
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura
British Journal of Dermatology, Volume 177, Number 6, Pages e340--e343, Nov 2017
DOI: 10.1111/bjd.16024

Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F. Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M. Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M. Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A. Bacino, Penelope E. Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
The American Journal of Human Genetics, Volume 101, Number 5, Pages 833--843, Nov 2017
DOI: 10.1016/j.ajhg.2017.09.016

Philipp Harter, Jan Hauke, Florian Heitz, Alexander Reuss, Stefan Kommoss, Frederik Marmé, André Heimbach, Katharina Prieske, Lisa Richters, Alexander Burges, Guido Neidhardt, Nikolaus de Gregorio, Ahmed El-Balat, Felix Hilpert, Werner Meier, Rainer Kimmig, Karin Kast, Jalid Sehouli, Klaus Baumann, Christian Jackisch, Tjoung-Won Park-Simon, Lars Hanker, Sandra Kröber, Jacobus Pfisterer, Heidrun Gevensleben, Andreas Schnelzer, Dimo Dietrich, Tanja Neunhöffer, Mathias Krockenberger, Sara Y. Brucker, Peter Nürnberg, Holger Thiele, Janine Altmüller, Josefin Lamla, Gabriele Elser, Andreas du Bois, Eric Hahnen, Rita Schmutzler
Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)
PLOS ONE, Volume 12, Number 10, Pages e0186043, Oct 2017
DOI: 10.1371/journal.pone.0186043

Abubakar Moawia, Ranad Shaheen, Sajida Rasool, Syeda Seema Waseem, Nour Ewida, Birgit Budde, Amit Kawalia, Susanne Motameny, Kamal Khan, Ambrin Fatima, Muhammad Jameel, Farid Ullah, Talia Akram, Zafar Ali, Uzma Abdullah, Saba Irshad, Wolfgang Höhne, Angelika Anna Noegel, Mohammed Al-Owain, Konstanze Hörtnagel, Petra Stöbe, Shahid Mahmood Baig, Peter Nürnberg, Fowzan Sami Alkuraya, Andreas Hahn, Muhammad Sajid Hussain
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
Annals of Neurology, Volume 82, Number 4, Pages 562--577, Oct 2017
DOI: 10.1002/ana.25044

Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
Nature Communications, Volume 8, Number 1, Oct 2017
DOI: 10.1038/s41467-017-00932-7

Eric Hahnen, Bianca Lederer, Jan Hauke, Sibylle Loibl, Sandra Kröber, Andreas Schneeweiss, Carsten Denkert, Peter A. Fasching, Jens U. Blohmer, Christian Jackisch, Stefan Paepke, Bernd Gerber, Sherko Kümmel, Christian Schem, Guido Neidhardt, Jens Huober, Kerstin Rhiem, Serban Costa, Janine Altmüller, Claus Hanusch, Holger Thiele, Volkmar Müller, Peter Nürnberg, Thomas Karn, Valentina Nekljudova, Michael Untch, Gunter von Minckwitz, Rita K. Schmutzler
Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer
JAMA Oncology, Volume 3, Number 10, Pages 1378, Oct 2017
DOI: 10.1001/jamaoncol.2017.1007

Julia Stanek, Nina Sackers, Fabian Fink, Melanie Paul, Laurens Peters, Richard Grunzke, Alexander Hoffmann, Sonja Herres-Pawlis
Copper Guanidinoquinoline Complexes as Entatic State Models of Electron-Transfer Proteins
Chemistry - A European Journal, Volume 23, Number 62, Pages 15738--15745, Oct 2017
DOI: 10.1002/chem.201703261

Cristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, Agnieszka Charzewska, Julian Schubert, Tally Lerman-Sagie, Hester Y Kroes, Renske Oegema, Monica Traverso, Nicola Specchio, Maria Lassota, Jamel Chelly, Odeya Bennett-Back, Nirit Carmi, Tal Koffler-Brill, Michele Iacomino, Marina Trivisano, Giuseppe Capovilla, Pasquale Striano, Magdalena Nawara, Sylwia Rzońca, Ute Fischer, Melanie Bienek, Corinna Jensen, Hao Hu, Holger Thiele, Janine Altmüller, Roland Krause, Patrick May, Felicitas Becker, Rudi Balling, Saskia Biskup, Stefan A Haas, Peter Nürnberg, Koen L I van Gassen, Holger Lerche, Federico Zara, Snezana Maljevic, Esther Leshinsky-Silver
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
Brain, Volume 140, Number 11, Pages 2879--2894, Oct 2017
DOI: 10.1093/brain/awx236

Haiko Luepsen
Comparison of nonparametric analysis of variance methods: A vote for van der Waerden
Communications in Statistics - Simulation and Computation, Volume 47, Number 9, Pages 2547--2576, Sep 2017
DOI: 10.1080/03610918.2017.1353613

Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J. Bolz
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation
Frontiers in Genetics, Volume 8, Sep 2017
DOI: 10.3389/fgene.2017.00130

Shahriar Mohammadi, Romuald Skoda
Assessment of Static and Dynamic Wall-Adapting Subgrid-Scale Models for Turbulent Channel and Square Duct Flows
Notes on Numerical Fluid Mechanics and Multidisciplinary Design, Volume 135, Pages 185--197, Sep 2017
DOI: 10.1007/978-3-319-60387-2_20

Matthias Witte, Sonja Herres-Pawlis
Relativistic effects at the Cu2O2 core -- a density functional theory study
Phys. Chem. Chem. Phys., Volume 19, Number 39, Pages 26880--26889, Sep 2017
DOI: 10.1039/c7cp04686c

Guido Neidhardt, Jan Hauke, Juliane Ramser, Eva Groß, Andrea Gehrig, Clemens R. Müller, Anne-Karin Kahlert, Karl Hackmann, Ellen Honisch, Dieter Niederacher, Stefanie Heilmann-Heimbach, André Franke, Wolfgang Lieb, Holger Thiele, Janine Altmüller, Peter Nürnberg, Kristina Klaschik, Corinna Ernst, Nina Ditsch, Frank Jessen, Alfredo Ramirez, Barbara Wappenschmidt, Christoph Engel, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer
JAMA Oncology, Volume 3, Number 9, Pages 1245, Sep 2017
DOI: 10.1001/jamaoncol.2016.5592

D. Seifried, S. Walch, P. Girichidis, T. Naab, R. Wünsch, R. S. Klessen, S. C. O. Glover, T. Peters, P. Clark
SILCC-Zoom: the dynamic and chemical evolution of molecular clouds
Monthly Notices of the Royal Astronomical Society, Volume 472, Number 4, Pages 4797--4818, Sep 2017
DOI: 10.1093/mnras/stx2343

G. D. Karssen, M. Bursa, A. Eckart, M. Valencia-S, M. Dovc̆iak, V. Karas, J. Horák
Bright X-ray flares from Sgr A*
Monthly Notices of the Royal Astronomical Society, Volume 472, Number 4, Pages 4422--4433, Sep 2017
DOI: 10.1093/mnras/stx2312

Sunay Usluer, Melek Aslı Kayserili, Aslı Gündoğdu Eken, Uluc Yiş, Costin Leu, Janine Altmüller, Holger Thiele, Peter Nürnberg, Thomas Sander, S. Hande Çağlayan
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)
European Journal of Paediatric Neurology, Volume 21, Number 5, Pages 773--782, Sep 2017
DOI: 10.1016/j.ejpn.2017.05.001

Perry T.C. van Doormaal, Nicola Ticozzi, Jochen H. Weishaupt, Kevin Kenna, Frank P. Diekstra, Federico Verde, Peter M. Andersen, Annelot M. Dekker, Cinzia Tiloca, Nicolai Marroquin, Daniel J. Overste, Viviana Pensato, Peter Nürnberg, Sara L. Pulit, Raymond D. Schellevis, Daniela Calini, Janine Altmüller, Laurent C. Francioli, Bernard Muller, Barbara Castellotti, Susanne Motameny, Antonia Ratti, Joachim Wolf, Cinzia Gellera, Albert C. Ludolph, Leonard H. van den Berg, Christian Kubisch, John E. Landers, Jan H. Veldink, Vincenzo Silani, Alexander E. Volk
The role of de novo mutations in the development of amyotrophic lateral sclerosis
Human Mutation, Volume 38, Number 11, Pages 1534--1541, Aug 2017
DOI: 10.1002/humu.23295

Thomas Bömerich, Jonathan Lux, Qingyufei Terenz Feng, Achim Rosch
Length scale of puddle formation in compensation-doped semiconductors and topological insulators
Physical Review B, Volume 96, Number 7, Aug 2017
DOI: 10.1103/physrevb.96.075204

Eric Detmar, Simin Yazdi Nezhad, Ulrich K. Deiters
Determination of the Residual Entropy of Simple Mixtures by Monte Carlo Simulation
Langmuir, Volume 33, Number 42, Pages 11603--11610, Aug 2017
DOI: 10.1021/acs.langmuir.7b02000

Tobias Eckernkemper
Modeling Systemic Risk: Time-Varying Tail Dependence When Forecasting Marginal Expected Shortfall
Journal of Financial Econometrics, Volume 16, Number 1, Pages 63--117, Aug 2017
DOI: 10.1093/jjfinec/nbx026

Susann Weissbach, Marie-Christine Reinert, Janine Altmüller, Ralph Krätzner, Holger Thiele, Thorsten Rosenbaum, Peter Nürnberg, Jutta Gärtner
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy
American Journal of Medical Genetics Part A, Volume 173, Number 10, Pages 2803--2807, Aug 2017
DOI: 10.1002/ajmg.a.38390

Davor Lessel, Danyi Wu, Carlos Trujillo, Thomas Ramezani, Ivana Lessel, Mohammad K. Alwasiyah, Bidisha Saha, Fuki M. Hisama, Katrin Rading, Ingrid Goebel, Petra Schütz, Günter Speit, Josef Högel, Holger Thiele, Gudrun Nürnberg, Peter Nürnberg, Matthias Hammerschmidt, Yan Zhu, David R. Tong, Chen Katz, George M. Martin, Junko Oshima, Carol Prives, Christian Kubisch
Dysfunction of the MDM2/p53 axis is linked to premature aging
Journal of Clinical Investigation, Volume 127, Number 10, Pages 3598--3608, Aug 2017
DOI: 10.1172/jci92171

Peter Broecker, Juan Carrasquilla, Roger G. Melko, Simon Trebst
Machine learning quantum phases of matter beyond the fermion sign problem
Sci Rep, Volume 7, Number 1, Aug 2017
DOI: 10.1038/s41598-017-09098-0

Jan Attig, Simon Trebst
Classical spin spirals in frustrated magnets from free-fermion band topology
Phys. Rev. B, Volume 96, Number 8, Aug 2017
DOI: 10.1103/physrevb.96.085145

Peter Broecker, Fakher F. Assaad, Simon Trebst
Quantum phase recognition via unsupervised machine learning
arXiv e-print, Jul 2017
arXiv: 1707.00663v1

Shahida Moosa, Janine Altmüller, Troels Lyngbye, Rikke Christensen, Yun Li, Peter Nürnberg, Gökhan Yigit, Ida Vogel, Bernd Wollnik
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome
Molecular Genetics & Genomic Medicine, Volume 5, Number 5, Pages 580--584, Jul 2017
DOI: 10.1002/mgg3.287

Giuliano Crispatzu, Pranav Kulkarni, Mohammad R. Toliat, Peter Nürnberg, Marco Herling, Carmen D. Herling, Peter Frommolt
Semi-automated cancer genome analysis using high-performance computing
Human Mutation, Volume 38, Number 10, Pages 1325--1335, Jul 2017
DOI: 10.1002/humu.23275

Eduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Eva Maria Reinthaler, Padhraig Gormley, Andrea Ganna, Andrea Byrnes, Katharina Pernhorst, Mohammad R Toliat, Elmo Saarentaus, Daniel P Howrigan, Per Hoffman, Juan Francisco Miquel, Giancarlo V De Ferrari, Peter Nürnberg, Holger Lerche, Fritz Zimprich, Bern A Neubauer, Albert J Becker, Felix Rosenow, Emilio Perucca, Federico Zara, Yvonne G Weber, Dennis Lal
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
Journal of Medical Genetics, Volume 54, Number 9, Pages 598--606, Jul 2017
DOI: 10.1136/jmedgenet-2016-104495

J. Schmauck, M. Breugst
The potential of pnicogen bonding for catalysis -- a computational study
Organic & Biomolecular Chemistry, Volume 15, Number 38, Pages 8037--8045, Jul 2017
DOI: 10.1039/c7ob01599b

Leif A. Körte, Jan Schwabedissen, Marcel Soffner, Sebastian Blomeyer, Christian G. Reuter, Yury V. Vishnevskiy, Beate Neumann, Hans-Georg Stammler, Norbert W. Mitzel
Tris(perfluorotolyl)borane-A Boron Lewis Superacid
Angewandte Chemie International Edition, Volume 56, Number 29, Pages 8578--8582, Jun 2017
DOI: 10.1002/anie.201704097

Marcus Brauns, Marvin Mantel, Julie Schmauck, Marian Guder, Martin Breugst, Jörg Pietruszka
Highly Enantioselective Allylation of Ketones: An Efficient Approach to All Stereoisomers of Tertiary Homoallylic Alcohols
Chemistry - A European Journal, Volume 23, Number 50, Pages 12136--12140, Jun 2017
DOI: 10.1002/chem.201701740

Alexei P. Kudin, Gregor Baron, Gábor Zsurka, Kevin G. Hampel, Christian E. Elger, Alexander Grote, Yvonne Weber, Holger Lerche, Holger Thiele, Peter Nürnberg, Herbert Schulz, Ann-Kathrin Ruppert, Thomas Sander, Qing Cheng, Elias SJ Arnér, Lutz Schomburg, Sandra Seeher, Noelia Fradejas-Villar, Ulrich Schweizer, Wolfram S. Kunz
Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
Free Radical Biology and Medicine, Volume 106, Pages 270--277, May 2017
DOI: 10.1016/j.freeradbiomed.2017.02.040

S. Pöllath, J. Wild, L. Heinen, T. N. G. Meier, M. Kronseder, L. Tutsch, A. Bauer, H. Berger, C. Pfleiderer, J. Zweck, A. Rosch, C. H. Back
Dynamical Defects in Rotating Magnetic Skyrmion Lattices
Physical Review Letters, Volume 118, Number 20, May 2017
DOI: 10.1103/physrevlett.118.207205

P. Yogeshwar, B. Tezkan
Analysing two-dimensional effects in central loop transient electromagnetic sounding data using a semi-synthetic tipper approach
Geophysical Prospecting, Volume 66, Number 2, Pages 444--456, May 2017
DOI: 10.1111/1365-2478.12520

Axel G. Griesbeck, Jörg.-M. Neudörfl, Bernd Goldfuss, Sabrina Molitor
Synthesis of 3-Benzylated Isoindolinones by Photoredox Decarboxylation of Arylacetates in the Presence of N -Benzylphthalimide: Conductivity as a Kinetic Tool
ChemPhotoChem, Volume 1, Number 8, Pages 355--362, May 2017
DOI: 10.1002/cptc.201700057

Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J. Bolz
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula
Scientific Reports, Volume 7, Number 1, May 2017
DOI: 10.1038/s41598-017-01577-8

Haiko Luepsen
The aligned rank transform and discrete variables: A warning
Communications in Statistics - Simulation and Computation, Volume 46, Number 9, Pages 6923--6936, Apr 2017
DOI: 10.1080/03610918.2016.1217014

Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Brain, Volume 140, Number 6, Pages 1561--1578, Apr 2017
DOI: 10.1093/brain/awx095

Rudolf Eröss, Bülent Tezkan, Johannes B. Stoll, Rainer Bergers
Interpretation of Very Low Frequency Measurements Carried Out with an Unmanned Aerial System by 2D Conductivity Models
Journal of Environmental & Engineering Geophysics, Volume 22, Number 1, Pages 83--94, Mar 2017
DOI: 10.2113/jeeg22.1.83

Guido Neidhardt, Alexandra Becker, Jan Hauke, Judit Horváth, Nadja Bogdanova Markov, Stefanie Heilmann-Heimbach, Heide Hellebrand, Holger Thiele, Janine Altmüller, Peter Nürnberg, Alfons Meindl, Kerstin Rhiem, Britta Blümcke, Barbara Wappenschmidt, Rita K. Schmutzler, Eric Hahnen
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer
European Journal of Cancer Prevention, Volume 26, Number 2, Pages 165--169, Mar 2017
DOI: 10.1097/cej.0000000000000240

Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, Tae-Joon Cho, Ok-Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2
American Journal of Medical Genetics Part A, Volume 173, Number 4, Pages 1102--1108, Mar 2017
DOI: 10.1002/ajmg.a.38116

Tat Pham Van, Ulrich K. Deiters
Calculation of second virial coefficients using ab initio intermolecular pair potentials for F2-F2 and H2-F2 dimers
Chemical Physics, Volume 485-486, Pages 67--80, Mar 2017
DOI: 10.1016/j.chemphys.2017.01.003

Elke Gabriel, Anand Ramani, Ulrike Karow, Marco Gottardo, Karthick Natarajan, Li Ming Gooi, Gladiola Goranci-Buzhala, Oleg Krut, Franziska Peters, Milos Nikolic, Suvi Kuivanen, Essi Korhonen, Teemu Smura, Olli Vapalahti, Argyris Papantonis, Jonas Schmidt-Chanasit, Maria Riparbelli, Giuliano Callaini, Martin Krönke, Olaf Utermöhlen, Jay Gopalakrishnan
Recent Zika Virus Isolates Induce Premature Differentiation of Neural Progenitors in Human Brain Organoids
Cell Stem Cell, Volume 20, Number 3, Pages 397--406.e5, Mar 2017
DOI: 10.1016/j.stem.2016.12.005

Damian J. Ralser, F. Buket Ü. Basmanav, Aylar Tafazzoli, Jade Wititsuwannakul, Sarah Delker, Sumita Danda, Holger Thiele, Sabrina Wolf, Michélle Busch, Susanne A. Pulimood, Janine Altmüller, Peter Nürnberg, Didier Lacombe, Uwe Hillen, Jörg Wenzel, Jorge Frank, Benjamin Odermatt, Regina C. Betz
Mutations in γ-secretase subunit--encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
Journal of Clinical Investigation, Volume 127, Number 4, Pages 1485--1490, Mar 2017
DOI: 10.1172/jci90667

Denis S. Tikhonov, Yury V. Vishnevskiy, Anatolii N. Rykov, Olga E. Grikina, Leonid S. Khaikin
Semi-experimental equilibrium structure of pyrazinamide from gas-phase electron diffraction. How much experimental is it?
Journal of Molecular Structure, Volume 1132, Pages 20--27, Mar 2017
DOI: 10.1016/j.molstruc.2016.05.090

Shahida Moosa, Bart Loeys, Janine Altmüller, Geert Mortier, Peter Nürnberg, Yun Li, Bernd Wollnik, Ida Vogel
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum
Clinical Genetics, Volume 92, Number 3, Pages 342--343, Mar 2017
DOI: 10.1111/cge.12990

Axel G. Griesbeck, Bernd Goldfuss, Christina Jäger, Eric Brüllingen, Tim Lippold, Margarethe Kleczka
Strong Asymmetry in the Perepoxide Bifurcation Mechanism: The Large-Group Effect in the Singlet Oxygen Ene Reaction with Allylic Alcohols
ChemPhotoChem, Volume 1, Number 5, Pages 213--221, Feb 2017
DOI: 10.1002/cptc.201600041

D. Seifried, Á. Sánchez-Monge, S. Suri, S. Walch
Modelling the chemistry of star-forming filaments -- II. Testing filament characteristics with synthetic observations
Monthly Notices of the Royal Astronomical Society, Volume 467, Number 4, Pages 4467--4483, Feb 2017
DOI: 10.1093/mnras/stx399

I. Ahmad, S. M. Baig, A. R. Abdulkareem, M. S. Hussain, I. Sur, M. R. Toliat, G. Nürnberg, N. Dalibor, A. Moawia, S. S. Waseem, M. Asif, H. Nagra, M. Sher, M. M. A. Khan, I. Hassan, S. ur Rehman, H. Thiele, J. Altmüller, A. A. Noegel, P. Nürnberg
Genetic heterogeneity in Pakistani microcephaly families revisited
Clinical Genetics, Volume 92, Number 1, Pages 62--68, Feb 2017
DOI: 10.1111/cge.12955

R. Gruber, G. Rainer, A. Weiss, A. Udvardi, H. Thiele, K.M. Eckl, R. Schupart, P. Nürnberg, J. Zschocke, M. Schmuth, B. Volc-Platzer, H.C. Hennies
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations
British Journal of Dermatology, Volume 176, Number 4, Pages 1068--1073, Jan 2017
DOI: 10.1111/bjd.14860

Christopher T Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura, Myriam Oufadem, Tamara J Beck, Ruth McGowan, Alex C Magee, Janine Altmüller, Camille Dion, Holger Thiele, Alexandra D Gurzau, Peter Nürnberg, Dieter Meschede, Wolfgang Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bole-Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbilek, Audrey S M Teo, Michael L Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M Murphy, Chalermpong Chatdokmaiprai, Axel M Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Nature Genetics, Volume 49, Number 2, Pages 249--255, Jan 2017
DOI: 10.1038/ng.3765

Maximilian Maahn, Ulrich Löhnert
Potential of Higher-Order Moments and Slopes of the Radar Doppler Spectrum for Retrieving Microphysical and Kinematic Properties of Arctic Ice Clouds
Journal of Applied Meteorology and Climatology, Volume 56, Number 2, Pages 263--282, Jan 2017
DOI: 10.1175/jamc-d-16-0020.1

P. Yogeshwar, B. Tezkan
Two-dimensional basement modeling of central loop transient electromagnetic data from the central Azraq basin area, Jordan
Journal of Applied Geophysics, Volume 136, Pages 198--210, Jan 2017
DOI: 10.1016/j.jappgeo.2016.11.001

Max H. Gerlach, Yoni Schattner, Erez Berg, Simon Trebst
Quantum critical properties of a metallic spin-density-wave transition
Phys. Rev. B, Volume 95, Number 3, Jan 2017
DOI: 10.1103/physrevb.95.035124