2016

Peter Broecker, Simon Trebst
Numerical stabilization of entanglement computation in auxiliary-field quantum Monte Carlo simulations of interacting many-fermion systems
Phys. Rev. E, Volume 94, Number 6, Dec 2016
DOI: 10.1103/physreve.94.063306

Finn Lasse Buessen, Simon Trebst
Competing magnetic orders and spin liquids in two- and three-dimensional kagome systems: Pseudofermion functional renormalization group perspective
Phys. Rev. B, Volume 94, Number 23, Dec 2016
DOI: 10.1103/physrevb.94.235138

Christian Biewer, Claudia Hamacher, Andre Kaiser, Nicolas Vogt, Aaron Sandleben, Mason T. Chin, Siqi Yu, David A. Vicic, Axel Klein
Unsymmetrical N-Aryl-1-(pyridin-2-yl)methanimine Ligands in Organonickel(II) Complexes: More Than a Blend of 2,2′-Bipyridine and N,N-Diaryl-α-diimines?
Inorganic Chemistry, Volume 55, Number 24, Pages 12716--12727, Dec 2016
DOI: 10.1021/acs.inorgchem.6b01874

Salil K. Sukumaran, Maria Stumpf, Sarah Salamon, Ilyas Ahmad, Kurchi Bhattacharya, Sarah Fischer, Rolf Müller, Janine Altmüller, Birgit Budde, Holger Thiele, Muhammad Tariq, Naveed Altaf Malik, Peter Nürnberg, Shahid Mahmood Baig, Muhammad Sajid Hussain, Angelika A. Noegel
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly
Molecular Genetics and Genomics, Volume 292, Number 2, Pages 365--383, Dec 2016
DOI: 10.1007/s00438-016-1277-x

Lilija Brant, Theodore Georgomanolis, Milos Nikolic, Chris A Brackley, Petros Kolovos, Wilfred Ijcken, Frank G Grosveld, Davide Marenduzzo, Argyris Papantonis
Exploiting native forces to capture chromosome conformation in mammalian cell nuclei
Molecular Systems Biology, Volume 12, Number 12, Pages 891, Dec 2016
DOI: 10.15252/msb.20167311

F.~Buket Ü.~Basmanav, Laura Cau, Aylar Tafazzoli, Marie-Claire Méchin, Sabrina Wolf, Maria~Teresa Romano, Frederic Valentin, Henning Wiegmann, Anne Huchenq, Rima Kandil, Natalie Garcia~Bartels, Arzu Kilic, Susannah George, Damian~J. Ralser, Stefan Bergner, David~J.P. Ferguson, Ana-Maria Oprisoreanu, Maria Wehner, Holger Thiele, Janine Altmüller, Peter Nürnberg, Daniel Swan, Darren Houniet, Aline Büchner, Lisa Weibel, Nicola Wagner, Ramon Grimalt, Anette Bygum, Guy Serre, Ulrike Blume-Peytavi, Eli Sprecher, Susanne Schoch, Vinzenz Oji, Henning Hamm, Paul Farrant, Michel Simon, Regina~C. Betz
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
The American Journal of Human Genetics, Volume 99, Number 6, Pages 1292--1304, Dec 2016
DOI: 10.1016/j.ajhg.2016.10.004

Miloš Nikolić, Argyris Papantonis, Alvaro Rada-Iglesias
GARLIC: a bioinformatic toolkit for aetiologically connecting diseases and cell type-specific regulatory maps
Human Molecular Genetics, Pages ddw423, Dec 2016
DOI: 10.1093/hmg/ddw423

Charlotte Reiff, Marta Owczarek-Lipska, Georg Spital, Carsten Röger, Hebke Hinz, Christoph Jüschke, Holger Thiele, Janine Altmüller, Peter Nürnberg, Romain Da Costa, John Neidhardt
The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family
Scientific Reports, Volume 6, Number 1, Nov 2016
DOI: 10.1038/srep36208

Toni Marie Diegoli, Heinrich Rohde, Stefan Borowski, Michael Krawczak, Michael D. Coble, Michael Nothnagel
Genetic mapping of 15 human X chromosomal forensic short tandem repeat (STR) loci by means of multi-core parallelization
Forensic Science International: Genetics, Volume 25, Pages 39--44, Nov 2016
DOI: 10.1016/j.fsigen.2016.07.004

Longle Ma, Anirudra Paul, Martin Breugst, Daniel Seidel
Redox-Neutral Aromatization of Cyclic Amines: Mechanistic Insights and Harnessing of Reactive Intermediates for Amine α- and β-C-H Functionalization
Chemistry - A European Journal, Volume 22, Number 50, Pages 18179--18189, Nov 2016
DOI: 10.1002/chem.201603839

Ludovik Noël-Duchesneau, Elodie Lagadic, Fabrice Morlet-Savary, Jean-François Lohier, Isabelle Chataigner, Martin Breugst, Jacques Lalevée, Annie-Claude Gaumont, Sami Lakhdar
Metal-Free Synthesis of 6-Phosphorylated Phenanthridines: Synthetic and Mechanistic Insights
Organic Letters, Volume 18, Number 22, Pages 5900--5903, Nov 2016
DOI: 10.1021/acs.orglett.6b02983

Simin Yazdi Nezhad, Ulrich K. Deiters
Estimation of the entropy of fluids with Monte Carlo computer simulation
Molecular Physics, Volume 115, Number 9-12, Pages 1074--1085, Oct 2016
DOI: 10.1080/00268976.2016.1238523

Aljona Blöcker, Joachim Saur, Lorenz Roth
Europa's plasma interaction with an inhomogeneous atmosphere: Development of Alfvén winglets within the Alfvén wings
Journal of Geophysical Research: Space Physics, Volume 121, Number 10, Pages 9794--9828, Oct 2016
DOI: 10.1002/2016ja022479

Petros Kolovos, Theodore Georgomanolis, Anna Koeferle, Joshua D. Larkin, Lilija Brant, Miloš Nikolicć, Eduardo G. Gusmao, Anne Zirkel, Tobias A. Knoch, Wilfred F. van Ijcken, Peter R. Cook, Ivan G. Costa, Frank G. Grosveld, Argyris Papantonis
Binding of nuclear factor κB to noncanonical consensus sites reveals its multimodal role during the early inflammatory response
Genome Research, Volume 26, Number 11, Pages 1478--1489, Sep 2016
DOI: 10.1101/gr.210005.116

Dingqing Li, Jan Schwabedissen, Hans-Georg Stammler, Norbert W. Mitzel, Helge Willner, Xiaoqing Zeng
Dichlorophosphanyl isocyanate -- spectroscopy, conformation and molecular structure in the gas phase and the solid state
Physical Chemistry Chemical Physics, Volume 18, Number 37, Pages 26245--26253, Sep 2016
DOI: 10.1039/c6cp05377g

Janine Altmüller, Susanne Motameny, Christian Becker, Holger Thiele, Sreyoshi Chatterjee, Bernd Wollnik, Peter Nürnberg
A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product
Biological Chemistry, Volume 397, Number 8, Pages 791--801, Aug 2016
DOI: 10.1515/hsz-2015-0300

Nina Bögershausen, Umut Altunoglu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, Bernd Wollnik
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
American Journal of Medical Genetics Part A, Volume 170, Number 12, Pages 3282--3288, Aug 2016
DOI: 10.1002/ajmg.a.37931

Yoni Schattner, Max H. Gerlach, Simon Trebst, Erez Berg
Competing Orders in a Nearly Antiferromagnetic Metal
Phys. Rev. Lett., Volume 117, Number 9, Aug 2016
DOI: 10.1103/physrevlett.117.097002

Peter Broecker, Simon Trebst
Entanglement and the fermion sign problem in auxiliary field quantum Monte Carlo simulations
Phys. Rev. B, Volume 94, Number 7, Aug 2016
DOI: 10.1103/physrevb.94.075144

Thomas Rösener, Olga Bienemann, Kerstin Sigl, Nora Schopp, Fabian Schnitter, Ulrich Flörke, Alexander Hoffmann, Artjom Döring, Dirk Kuckling, Sonja Herres-Pawlis
A Comprehensive Study of Copper Guanidine Quinoline Complexes: Predicting the Activity of Catalysts in ATRP with DFT
Chemistry - A European Journal, Volume 22, Number 38, Pages 13550--13562, Aug 2016
DOI: 10.1002/chem.201602223

Alison Levens, Feng An, Martin Breugst, Herbert Mayr, David W. Lupton
Influence of the N-Substituents on the Nucleophilicity and Lewis Basicity of N-Heterocyclic Carbenes
Organic Letters, Volume 18, Number 15, Pages 3566--3569, Jul 2016
DOI: 10.1021/acs.orglett.6b01525

Carmen Diana Herling, Marion Klaumünzer, Cristiano Krings Rocha, Janine Altmüller, Holger Thiele, Jasmin Bahlo, Sandra Kluth, Giuliano Crispatzu, Marco Herling, Joanna Schiller, Anja Engelke, Eugen Tausch, Hartmut Döhner, Kirsten Fischer, Valentin Goede, Peter Nürnberg, Hans Christian Reinhardt, Stephan Stilgenbauer, Michael Hallek, Karl-Anton Kreuzer
Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy
Blood, Volume 128, Number 3, Pages 395--404, Jul 2016
DOI: 10.1182/blood-2016-01-691550

Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H. Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
Human Mutation, Volume 37, Number 9, Pages 847--864, Jul 2016
DOI: 10.1002/humu.23026

Amit Tiwari, Johannes Lemke, Janine Altmueller, Holger Thiele, Esther Glaus, Johannes Fleischhauer, Peter Nürnberg, John Neidhardt, Wolfgang Berger
Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations
PLOS ONE, Volume 11, Number 7, Pages e0158692, Jul 2016
DOI: 10.1371/journal.pone.0158692

Kerstin Becker, Sabine Siegert, Mohammad Reza Toliat, Juanjiangmeng Du, Ramona Casper, Guido H. Dolmans, Paul M. Werker, Sigrid Tinschert, Andre Franke, Christian Gieger, Konstantin Strauch, Michael Nothnagel, Peter Nürnberg, Hans Christian Hennies
Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease
PLOS ONE, Volume 11, Number 7, Pages e0158101, Jul 2016
DOI: 10.1371/journal.pone.0158101

Shahida Moosa, Virginia Fano, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Gen Nishimura, Bernd Wollnik
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival
American Journal of Medical Genetics Part A, Volume 170, Number 9, Pages 2436--2439, Jun 2016
DOI: 10.1002/ajmg.a.37823

Thomas M. Klapötke, Burkhard Krumm, Sebastian Rest, Regina Scharf, Jan Schwabedissen, Hans-Georg Stammler, Norbert W. Mitzel
Carbonyl Diisocyanate CO(NCO)2: Synthesis and Structures in Solid State and Gas Phase
The Journal of Physical Chemistry A, Volume 120, Number 26, Pages 4534--4541, Jun 2016
DOI: 10.1021/acs.jpca.6b04245

Peter A. Byrne, Shinjiro Kobayashi, Martin Breugst, Hans Laub, Herbert Mayr
Quantification of the nucleophilic reactivity of nicotine
Journal of Physical Organic Chemistry, Volume 29, Number 12, Pages 759--767, May 2016
DOI: 10.1002/poc.3580

Kamel Laghmani, Bodo B. Beck, Sung-Sen Yang, Elie Seaayfan, Andrea Wenzel, Björn Reusch, Helga Vitzthum, Dario Priem, Sylvie Demaretz, Klasien Bergmann, Leonie K. Duin, Heike Göbel, Christoph Mache, Holger Thiele, Malte P. Bartram, Carlos Dombret, Janine Altmüller, Peter Nürnberg, Thomas Benzing, Elena Levtchenko, Hannsjörg W. Seyberth, Günter Klaus, Gökhan Yigit, Shih-Hua Lin, Albert Timmer, Tom J. de Koning, Sicco A. Scherjon, Karl P. Schlingmann, Mathieu J.M. Bertrand, Markus M. Rinschen, Olivier de Backer, Martin Konrad, Martin Kömhoff
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations
New England Journal of Medicine, Volume 374, Number 19, Pages 1853--1863, May 2016
DOI: 10.1056/nejmoa1507629

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike O. Heyne, Hannah Schütz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine Heron, Rikke S. Møller, Helle Hjalgrim, Dennis Lal, Bernd A. Neubauer, Peter Nürnberg, Holger Thiele, Gerhard Kurlemann, Georgianne L. Arnold, Vikas Bhambhani, Deborah Bartholdi, Christeen Ramane J. Pedurupillay, Doriana Misceo, Eirik Frengen, Petter Strømme, Dennis J. Dlugos, Emily S. Doherty, Emilia K. Bijlsma, Claudia A. Ruivenkamp, Mariette J.V. Hoffer, Amy Goldstein, Deepa S. Rajan, Vinodh Narayanan, Keri Ramsey, Newell Belnap, Isabelle Schrauwen, Ryan Richholt, Bobby P.C. Koeleman, Joaquim Sá, Carla Mendonça, Carolien G.F. de Kovel, Sarah Weckhuysen, Katia Hardies, Peter De Jonghe, Linda De Meirleir, Mathieu Milh, Catherine Badens, Marine Lebrun, Tiffany Busa, Christine Francannet, Amélie Piton, Erik Riesch, Saskia Biskup, Heinrich Vogt, Thomas Dorn, Ingo Helbig, Jacques L. Michaud, Bodo Laube, Steffen Syrbe
Delineating the GRIN1 phenotypic spectrum
Neurology, Volume 86, Number 23, Pages 2171--2178, May 2016
DOI: 10.1212/wnl.0000000000002740

Su-Chan Park, Johannes Neidhart, Joachim Krug
Greedy adaptive walks on a correlated fitness landscape
Journal of Theoretical Biology, Volume 397, Pages 89--102, May 2016
DOI: 10.1016/j.jtbi.2016.02.035

Mert Karakaya, Raoul Heller, Volkmar Kunde, Klaus-Peter Zimmer, Cho-Ming Chao, Peter Nürnberg, Sebahattin Cirak
Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone
Neuropediatrics, Volume 47, Number 04, Pages 273--277, May 2016
DOI: 10.1055/s-0036-1584084

Mathias Paul, Martin Breugst, Jörg-Martin Neudörfl, Raghavan B. Sunoj, Albrecht Berkessel
Keto--Enol Thermodynamics of Breslow Intermediates
Journal of the American Chemical Society, Volume 138, Number 15, Pages 5044--5051, Apr 2016
DOI: 10.1021/jacs.5b13236

Martin Breugst, Eric Detmar, Daniel von der Heiden
Origin of the Catalytic Effects of Molecular Iodine: A Computational Analysis
ACS Catalysis, Volume 6, Number 5, Pages 3203--3212, Apr 2016
DOI: 10.1021/acscatal.6b00447

D. Seifried, Á. Sánchez-Monge, S. Walch, R. Banerjee
Revealing the dynamics of Class 0 protostellar discs with ALMA
Monthly Notices of the Royal Astronomical Society, Volume 459, Number 2, Pages 1892--1906, Apr 2016
DOI: 10.1093/mnras/stw785

A. Mobascher, A. Diaz-Lacava, M. Wagner, J. Gallinat, T. F. Wienker, D. Drichel, T. Becker, M. Steffens, N. Dahmen, G. Gründer, N. Thürauf, F. Kiefer, J. Kornhuber, M. R. Toliat, H. Thiele, P. Nürnberg, O. Steinlein, G. Winterer
Association of Common Polymorphisms in the Nicotinic Acetylcholine Receptor Alpha4 Subunit Gene with an Electrophysiological Endophenotype in a Large Population-Based Sample
PLOS ONE, Volume 11, Number 4, Pages e0152984, Apr 2016
DOI: 10.1371/journal.pone.0152984

D. Seifried, S. Walch
Modelling the chemistry of star-forming filaments -- I. H2and CO chemistry
Monthly Notices of the Royal Astronomical Society: Letters, Volume 459, Number 1, Pages L11--L15, Mar 2016
DOI: 10.1093/mnrasl/slw035

Ulrich K. Deiters, Arnold Neumaier
Computer Simulation of the Characteristic Curves of Pure Fluids
Journal of Chemical & Engineering Data, Volume 61, Number 8, Pages 2720--2728, Mar 2016
DOI: 10.1021/acs.jced.6b00133

Yury V. Vishnevskiy, Denis Tikhonov
Quantum corrections to parameters of interatomic distance distributions in molecular dynamics simulations
Theoretical Chemistry Accounts, Volume 135, Number 4, Mar 2016
DOI: 10.1007/s00214-016-1848-2

Dennis Lal, Eva M. Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M. Arfan Ikram, Cornelia M. van Duijn, Andre G. Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Padhraig Gormley, Felicitas Becker, Yvonne G. Weber, Maria Roberta Cilio, Wolfram S. Kunz, Roland Krause, Fritz Zimprich, Johannes R. Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A. Neubauer
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes
PLOS ONE, Volume 11, Number 3, Pages e0150426, Mar 2016
DOI: 10.1371/journal.pone.0150426

Amir Haroon, Vladimir Mogilatov, Mark Goldman, Rainer Bergers, Bülent Tezkan
Exploration of resistive targets within shallow marine environments using the circular electrical dipole and the differential electrical dipole methods: a time-domain modelling study
Geophysical Journal International, Volume 205, Number 2, Pages 1032--1048, Feb 2016
DOI: 10.1093/gji/ggw051

Florian F. Wolf, Helge Klare, Bernd Goldfuss
Asymmetric Michael Additions of 4-Hydroxycoumarin to β-Nitrostyrenes with Chiral, Bifunctional Hydrogen-Bonding Catalysts
The Journal of Organic Chemistry, Volume 81, Number 5, Pages 1762--1768, Feb 2016
DOI: 10.1021/acs.joc.5b02167

Sandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, Nele M. G. Dieckmann, Klaus Niethammer, Sebastian Fuchs, Katja Martina Eckl, Roswitha Plank, Roland Werner, Janine Altmüller, Holger Thiele, Peter Nürnberg, Julia Bank, Anne Strauss, Horst von Bernuth, Udo zur Stadt, Samantha Grieve, Gillian M. Griffiths, Kai Lehmberg, Hans Christian Hennies, Stephan Ehl
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
Blood, Volume 127, Number 8, Pages 997--1006, Feb 2016
DOI: 10.1182/blood-2015-09-671636

Elena Gardella, Felicitas Becker, Rikke S. Møller, Julian Schubert, Johannes R. Lemke, Line H. G. Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller, Steffen Syrbe, Andreas Merkenschlager, Thomas Bast, Bernhard Steinhoff, Peter Nürnberg, Yuan Mang, Louise Bakke Møller, Pia Gellert, Sarah E. Heron, Leanne M. Dibbens, Sarah Weckhuysen, Hans Atli Dahl, Saskia Biskup, Niels Tommerup, Helle Hjalgrim, Holger Lerche, Sándor Beniczky, Yvonne G. Weber
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
Annals of Neurology, Volume 79, Number 3, Pages 428--436, Feb 2016
DOI: 10.1002/ana.24580

Kevin O'Brien, Maria Hermanns, Simon Trebst
Classification of gapless Z2 spin liquids in three-dimensional Kitaev models
Phys. Rev. B, Volume 93, Number 8, Feb 2016
DOI: 10.1103/physrevb.93.085101

Dennis Lal, Bernd A. Neubauer, Mohammad R. Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing
PLOS ONE, Volume 11, Number 1, Pages e0146040, Jan 2016
DOI: 10.1371/journal.pone.0146040

Shahida Moosa, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Virginia Fano, Bernd Wollnik
NovelIFT122mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum
American Journal of Medical Genetics Part A, Volume 170, Number 5, Pages 1295--1301, Jan 2016
DOI: 10.1002/ajmg.a.37570

Malte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, Catherine Leettola, Gudrun Nürnberg, Nadine Sowada, Darío G. Lupiáñez, Izabela Harabula, Ricarda Flöttmann, Denise Horn, Wing Lee Chan, Lars Wittler, Rüstem Yilmaz, Janine Altmüller, Holger Thiele, Hans van Bokhoven, Charles E. Schwartz, Peter Nürnberg, James U. Bowie, Jamil Ahmad, Christian Kubisch, Stefan Mundlos, Guntram Borck
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
Genome Research, Volume 26, Number 2, Pages 183--191, Jan 2016
DOI: 10.1101/gr.199430.115

Malte P. Bartram, Sandra Habbig, Caroline Pahmeyer, Martin Höhne, Lutz T. Weber, Holger Thiele, Janine Altmüller, Nina Kottoor, Andrea Wenzel, Marcus Krueger, Bernhard Schermer, Thomas Benzing, Markus M. Rinschen, Bodo B. Beck
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS
Human Molecular Genetics, Volume 25, Number 6, Pages 1152--1164, Jan 2016
DOI: 10.1093/hmg/ddv638

Georg-Christoph Korenke, Marlene Eggert, Holger Thiele, Peter Nürnberg, Thomas Sander, Ortrud K. Steinlein
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3
Epilepsia, Volume 57, Number 3, Pages e60--e63, Jan 2016
DOI: 10.1111/epi.13307

Isabel Spier, Martin Kerick, Dmitriy Drichel, Sukanya Horpaopan, Janine Altmüller, Andreas Laner, Stefanie Holzapfel, Sophia Peters, Ronja Adam, Bixiao Zhao, Tim Becker, Richard P. Lifton, Elke Holinski-Feder, Sven Perner, Holger Thiele, Markus M. Nöthen, Per Hoffmann, Bernd Timmermann, Michal R. Schweiger, Stefan Aretz
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis
Familial Cancer, Volume 15, Number 2, Pages 281--288, Jan 2016
DOI: 10.1007/s10689-016-9870-z