Zeitschriftenartikel (90)
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36 (10), S. 688 - 704 (2015)
Ligands for the Nuclear Peroxisome Proliferator-Activated Receptor Gamma. Trends in Pharmacological Sciences 22.
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526 (7571), S. 75 - 81 (2015)
An integrated map of structural variation in 2,504 human genomes. Nature 23.
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526 (7571), S. 68 - 74 (2015)
A global reference for human genetic variation. Nature 24.
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4 (12), S. 891 - 901 (2015)
Bioenergetic cues shift FXR splicing towards FXRα2 to modulate hepatic lipolysis and fatty acid metabolism. Molecular Metabolism 25.
Zeitschriftenartikel
97 (3), S. 483 - 492 (2015)
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. The American Journal of Human Genetics 26.
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33 (9), S. 933 - 940 (2015)
Prediction of human population responses to toxic compounds by a collaborative competition. Nat Biotechnol 27.
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47 (9), S. 1020 - 1029 (2015)
Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options. Nature Genetics 28.
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6 (29), S. 26546 - 26547 (2015)
Insight into miRNA biogenesis with RNA sequencing. Oncotarget 29.
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15, S. 33 - 40 (2015)
Network and systems biology: essential steps in virtualising drug discovery and development. Drug Discovery Today: Technology 30.
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524 (7563), S. 47 - 53 (2015)
Comprehensive genomic profiles of small cell lung cancer. Nature 31.
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97 (2), S. 302 - 310 (2015)
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. The American Journal of Human Genetics 32.
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97 (2), S. 343 - 352 (2015)
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. The American Journal of Human Genetics 33.
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112 (31), S. E4236 - E4245 (2015)
Simultaneous deletion of the methylcytosine oxidases Tet1 and Tet3 increases transcriptome variability in early embryogenesis. Proceedings of the National Academy of Sciences of the United States of America 34.
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58 (8), S. 376 - 380 (2015)
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 35.
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25 (8), S. 1215 - 1228 (2015)
Quantification of GC-biased gene conversion in the human genome. Genome Research 36.
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36 (8), S. 815 - 822 (2015)
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 37.
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469 (3), S. 409 - 420 (2015)
Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16. Biochemical Journal 38.
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60 (8), S. 419 - 425 (2015)
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? JOURNAL OF HUMAN GENETICS 39.
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52 (7), S. 476 - 483 (2015)
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 40.
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47 (7), S. 822 - 826 (2015)
Genome-wide patterns and properties of de novo mutations in humans. Nature Genetics