Sprink, T.; Ramrath, D. J. F.; Yamamoto, H.; Yamamoto, K.; Loerke, J.; Ismer, J.; Hildebrand, P. W.; Scheerer, P.; Bürger, J.; Mielke, T. et al.; Spahn, C. M. T.: Structures of ribosome-bound initiation factor 2 reveal mechanism of subunit association. Science Advances 2 (3), e1501502 (2016)

Knierim, E.; Hirata, H.; Wolf, N. I.; Morales-Gonzalez, S.; Schottmann, G.; Tanaka, Y.; Rudnik-Schöneborn, S.; Orgeur, M.; Zerres, K.; Vogt, S. et al.; van Riesen, A.; Gill, E.; Seifert, F.; Zwirner, A.; Kirschner, J.; Goebel, H. H.; Hübner, C.; Stricker, S.; Meierhofer, D.; Stenzel, W.; Schuelke, M.: Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. The American Journal of Human Genetics 98, S. 1 - 17 (2016)

Ibrahim, D.; Tayebi, N.; Knaus, A.; Stiege, A. C.; Sahebzamani, A.; Hecht, J.; Mundlos, S.; Spielmann, M.: A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A 170 (3), S. 615 - 621 (2016)

Iqbal, Z.; Püttmann, L.; Musante, L.; Razzaq, A.; Zahoor, M. Y.; Hu, H.; Wienker, T. F.; Garshasbi, M.; Fattahi, Z.; Gilissen, C. et al.; Vissers, L. E.; de Brouwer, A. P.; Veltman, J. A.; Pfundt, R.; Najmabadi, H.; Ropers, H. H.; Riazuddin, S.; Kahrizi, K.; van Bokhoven, H.: Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. European journal of human genetics 24 (3), S. 392 - 399 (2016)

Mueller, J. C.; Kuhl, H.; Timmermann, B.; Kempenaers, B.: Characterization of the genome and transcriptome of the blue tit Cyanistes caeruleus: polymorphisms, sex-biased expression and selection signals. Molecular Ecology Resources 16 (2), S. 549 - 561 (2016)

Olech, E. M.; Zemojtel, T.; Sowinska-Seidler, A.; Mundlos, S.; Robinson, P. N.; Karczewski, M.; Jamsheer, A.: Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. Polish Journal of Pathology 67 (1), S. 78 - 83 (2016)

Smith, Z. D.; Sindhu, C.; Meissner, A.: Molecular features of cellular reprogramming and development. Nature Reviews Molecular Cell Biology 17 (3), S. 139 - 154 (2016)

Veenvliet, J. V.: Studying Mesodiencephalic Dopaminergic Neuron Development In Vivo to Improve Stem Cell Therapy in Parkinson’s Disease. The Journal of Neuroscience 36 (6), S. 1794 - 1796 (2016)

Juan, D.; Perner, J.; Carrillo de Santa Pau, E.; Marsili, S.; Ochoa, D.; Chung, H. R.; Vingron, M.; Rico, D.; Valencia, A.: Epigenomic Co-localization and Co-evolution Reveal a Key Role for 5hmC as a Communication Hub in the Chromatin Network of ESCs. Cell Reports 14 (5), S. 1246 - 1257 (2016)

Lin, C. Y.; Erkek, S.; Tong, Y.; Yin, L.; Federation, A. J.; Zapatka, M.; Haldipur, P.; Kawauchi, D.; Risch, T.; Warnatz, H. J. et al.; Worst, B. C.; Ju, B.; Orr, B. A.; Zeid, R.; Polaski, D. R.; Segura-Wang, M.; Waszak, S. M.; Jones, D. T.; Kool, M.; Hovestadt, V.; Buchhalter, I.; Sieber, L.; Johann, P.; Chavez, L.; Groschel, S.; Ryzhova, M.; Korshunov, A.; Chen, W.; Chizhikov, V. V.; Millen, K. J.; Amstislavskiy, V.; Lehrach, H.; Yaspo, M. L.; Eils, R.; Lichter, P.; Korbel, J. O.; Pfister, S. M.; Bradner, J. E.; Northcott, P. A.: Active medulloblastoma enhancers reveal subgroup-specific cellular origins. Nature 530 (7588), S. 57 - 62 (2016)

Alam, M. T.; Zelezniak, A.; Mülleder, M.; Shliaha, P.; Schwarz, R.; Capuano, F.; Vowinckel, J.; Radmanesfahar , E.; Krüger, A.; Calvani , E. et al.; Michel, S.; Börno, S. T.; Christen, S.; Patil , K. R.; Timmermann, B.; Lilley, K. S.; Ralser, M.: The metabolic background is a global player in Saccharomyces gene expression epistasis. Nature Microbiology 2016, 15030 (2016)

Spielmann, M.; Kakar, N.; Tayebi, N.; Leettola, C.; Nürnberg, G.; Sowada, N.; Lupiáñez, D. G.; Harabula, I.; Flöttmann, R.; Horn, D. et al.; Chan, W. L.; Wittler, L.; Yilmaz, R.; Altmüller, J.; Thiele, H.; van Bokhoven,, H.; Schwartz, C. E.; Nürnberg, P.; Bowie, J. U.; Ahmad, J.; Kubisch, C.; Mundlos, S.: Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK as a Cause of Limb Defects in Humans and Mice. Genome Research 26 (2), S. 183 - 191 (2016)

Spier, I.; Kerick, M.; Drichel, D.; Horpaopan, S.; Altmüller, J.; Laner, A.; Holzapfel, S.; Peters, S.; Adam, R.; Zhao, B. et al.; Becker, T.; Lifton, R. P.; Holinski-Feder, E.; Perner, S.; Thiele, H.; Nöthen, M. M.; Hoffmann, P.; Timmermann, B.; Schweiger, M. R.; Aretz, S.: Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Famillial Cancer 2016, S. 1 - 8 (2016)

Kalscheuer, V. M.; James, V. M.; Himelright, M. L.; Long, P.; Oegema, R.; Jensen, C.; Bienek, M.; Hu, H.; Haas, S. A.; Topf, M. et al.; Hoogeboom, A. J.; Harvey, K.; Walikonis, R.; Harvey, R. J.: Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. Frontiers in Molecular Neuroscience 8, 8:85 (2016)

Marks, M.; Pennimpede, T.; Lange, L.; Grote, P.; Herrmann, B. G.; Wittler, L.: Analysis of the Fam181 gene family during mouse development reveals distinct strain-specific expression patterns, suggesting a role in nervous system development and function. Gene 575 (2 Pt 2), S. 438 - 451 (2016)

Ancherbak, S.; Kuruoglu, E. E.; Vingron, M.: Time-Dependent Gene Network Modelling by Sequential Monte Carlo. IEEE ACM Transactions on Computational Biology and Bioinformatics 13 (6), S. 1183 - 1193 (2016)

Chen, L.; Ge, B.; Casale, F. P.; Vasquez, L.; Kwan, T.; Garrido-Martin, D.; Watt, S.; Yan, Y.; Kundu, K.; Ecker, S. et al.; Datta, A.; Richardson, D.; Burden, F.; Mead, D.; Mann, A. L.; Fernandez, J. M.; Rowlston, S.; Wilder, S. P.; Farrow, S.; Shao, X.; Lambourne, J. J.; Redensek, A.; Albers, C. A.; Amstislavskiy, V.; Ashford, S.; Berentsen, K.; Bomba, L.; Bourque, G.; Bujold, D.; Busche, S.; Caron, M.; Chen, S. H.; Cheung, W.; Delaneau, O.; Dermitzakis, E. T.; Elding, H.; Colgiu, I.; Bagger, F. O.; Flicek, P.; Habibi, E.; Iotchkova, V.; Janssen-Megens, E.; Kim, B.; Lehrach, H.; Lowy, E.; Mandoli, A.; Matarese, F.; Maurano, M. T.; Morris, J. A.; Pancaldi, V.; Pourfarzad, F.; Rehnstrom, K.; Rendon, A.; Risch, T.; Sharifi, N.; Simon, M. M.; Sultan, M.; Valencia, A.; Walter, K.; Wang, S. Y.; Frontini, M.; Antonarakis, S. E.; Clarke, L.; Yaspo, M. L.; Beck, S.; Guigo, R.; Rico, D.; Martens, J. H. A.; Ouwehand, W. H.; Kuijpers, T. W.; Paul, D. S.; Stunnenberg, H. G.; Stegle, O.; Downes, K.; Pastinen, T.; Soranzo, N.: Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. Cell 167 (5), e24, S. 1398 - 1414 (2016)

Esmaeeli-Nieh, S.; Fenckova, M.; Porter, I. M.; Motazacker, M. M.; Nijhof, B.; Castells-Nobau, A.; Asztalos, Z.; Weissmann, R.; Behjati, F.; Tzschach, A. et al.; Felbor, U.; Scherthan, H.; Sayfati, S. M.; Ropers, H. H.; Kahrizi, K.; Najmabadi, H.; Swedlow, J. R.; Schenck, A.; Kuss, A. W.: BOD1 Is Required for Cognitive Function in Humans and Drosophila. PLoS Genetics 12 (5), e1006022 (2016)

Hackmann, K.; Rump, A.; Haas, S. A.; Lemke, J. R.; Fryns, J. P.; Tzschach, A.; Wieczorek, D.; Albrecht, B.; Kuechler, A.; Ripperger, T. et al.; Kobelt, A.; Oexle, K.; Tinschert, S.; Schrock, E.; Kalscheuer, V. M.; Di Donato, N.: Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? American Journal of Medical Genetics Part A 170 (1), S. 94 - 102 (2016)

Hartmann, B.; Wai, T.; Hu, H.; MacVicar, T.; Musante, L.; Fischer-Zirnsak, B.; Stenzel, W.; Graf, R.; van den Heuvel, L.; Ropers, H. H. et al.; Wienker, T. F.; Hübner, C.; Langer, T.; Kaindl, A. M.: Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife 5, e16078 (2016)