2012

Lina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, Alexandra Segref, Holger Thiele, Andrew Edwards, Mark~J. Arends, Xavier Miró, Jacqueline~K. White, Julie Désir, Marc Abramowicz, Maria~Lisa Dentici, Francesca Lepri, Kay Hofmann, Adi Har-Zahav, Edward Ryder, Natasha~A. Karp, Jeanne Estabel, Anna-Karin~B. Gerdin, Christine Podrini, Neil~J. Ingham, Janine Altmüller, Gudrun Nürnberg, Peter Frommolt, Sonia Abdelhak, Metsada Pasmanik-Chor, Osnat Konen, Richard~I. Kelley, Mordechai Shohat, Peter Nürnberg, Jonathan Flint, Karen~P. Steel, Thorsten Hoppe, Christian Kubisch, David~J. Adams, Guntram Borck
Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
The American Journal of Human Genetics, Volume 91, Number 6, Pages 998--1010, Dec 2012
DOI: 10.1016/j.ajhg.2012.10.011

Guntram Borck, Byung-Sik Shin, Barbara Stiller, Aviva Mimouni-Bloch, Holger Thiele, Joo-Ran Kim, Meghna Thakur, Cindy Skinner, Lara Aschenbach, Pola Smirin-Yosef, Adi Har-Zahav, Gudrun Nürnberg, Janine Altmüller, Peter Frommolt, Kay Hofmann, Osnat Konen, Peter Nürnberg, Arnold Munnich, Charles~E. Schwartz, Doron Gothelf, Laurence Colleaux, Thomas~E. Dever, Christian Kubisch, Lina Basel-Vanagaite
eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation
Molecular Cell, Volume 48, Number 4, Pages 641--646, Nov 2012
DOI: 10.1016/j.molcel.2012.09.005

Hendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, Ulrike Maschke, Janine Altmüller, Peter Frommolt, Birgit Zirn, Friedrich Ebinger, Hartmut Siemes, Peter Nürnberg, Knut Brockmann, Jutta Gärtner
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
The Lancet Neurology, Volume 11, Number 9, Pages 764--773, Sep 2012
DOI: 10.1016/s1474-4422(12)70182-5

David Coelho, Jaeseung C Kim, Isabelle R Miousse, Stephen Fung, Marcel du Moulin, Insa Buers, Terttu Suormala, Patricie Burda, Michele Frapolli, Martin Stucki, Peter Nürnberg, Holger Thiele, Horst Robenek, Wolfgang Höhne, Nicola Longo, Marzia Pasquali, Eugen Mengel, David Watkins, Eric A Shoubridge, Jacek Majewski, David S Rosenblatt, Brian Fowler, Frank Rutsch, Matthias R Baumgartner
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
Nature Genetics, Volume 44, Number 10, Pages 1152--1155, Aug 2012
DOI: 10.1038/ng.2386

Kerstin Hoef-Emden
Pitfalls of Establishing DNA Barcoding Systems in Protists: The Cryptophyceae as a Test Case
PLoS ONE, Volume 7, Number 8, Pages e43652, Aug 2012
DOI: 10.1371/journal.pone.0043652

M Valencia-S, M Bursa, G Karssen, M Dovčiak, A Eckart, J Horák, V Karas
Modeling polarization signatures of NIR radiation from the Sgr A* black hole environs
Journal of Physics: Conference Series, Volume 372, Pages 012073, Jul 2012
DOI: 10.1088/1742-6596/372/1/012073

Roberto Blanco Trillo, Matthias Leven, Jörg M. Neudörfl, Bernd Goldfuss
Electronegativity Governs Enantioselectivity: Alkyl-Aryl Cross-Coupling with Fenchol-Based Palladium-Phosphorus Halide Catalysts
Advanced Synthesis & Catalysis, Volume 354, Number 8, Pages 1451--1465, May 2012
DOI: 10.1002/adsc.201100924

Muhammad~Sajid Hussain, Shahid~Mahmood Baig, Sascha Neumann, Gudrun Nürnberg, Muhammad Farooq, Ilyas Ahmad, Thomas Alef, Hans~Christian Hennies, Martin Technau, Janine Altmüller, Peter Frommolt, Holger Thiele, Angelika~Anna Noegel, Peter Nürnberg
A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
The American Journal of Human Genetics, Volume 90, Number 5, Pages 871--878, May 2012
DOI: 10.1016/j.ajhg.2012.03.016

P.V. Asharani, Katharina Keupp, Oliver Semler, Wenshen Wang, Yun Li, Holger Thiele, Gökhan Yigit, Esther Pohl, Jutta Becker, Peter Frommolt, Carmen Sonntag, Janine Altmüller, Katharina Zimmermann, Daniel~S. Greenspan, Nurten~A. Akarsu, Christian Netzer, Eckhard Schönau, Radu Wirth, Matthias Hammerschmidt, Peter Nürnberg, Bernd Wollnik, Thomas~J. Carney
Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
The American Journal of Human Genetics, Volume 90, Number 4, Pages 661--674, Apr 2012
DOI: 10.1016/j.ajhg.2012.02.026

Su-Chan Park
Order-disorder transition in a model with two symmetric absorbing states
Physical Review E, Volume 85, Number 4, Apr 2012
DOI: 10.1103/physreve.85.041140

Francesco Knechtli, Magdalena Luz, Antonio Rago
On the phase structure of five-dimensional SU(2) gauge theories with anisotropic couplings
Nuclear Physics B, Volume 856, Number 1, Pages 74--94, Mar 2012
DOI: 10.1016/j.nuclphysb.2011.11.001

Matthias Leven, David Mueller, Bernd Goldfuss
ChemInform Abstract: Enantioselective Alkynylation of Aromatic Aldehydes: Pyridyl Phenylene Terpeneol Catalysts with Flexible Biaryl Axes.
ChemInform, Volume 43, Number 10, Pages no--no, Feb 2012
DOI: 10.1002/chin.201210061