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Allele frequencies of BRAFV600 mutations in primary melanomas and matched metastases and their relevance for BRAF inhibitor therapy in metastatic melanoma. Oncotarget 22.
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Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Human Molecular Genetics 23.
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Redefining the MED13L syndrome. European journal of human genetics 24.
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GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 25.
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Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 26.
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High-Affinity Sites Form an Interaction Network to Facilitate Spreading of the MSL Complex across the X Chromosome in Drosophila. Molecular Cell 27.
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36 (10), pp. 688 - 704 (2015)
Ligands for the Nuclear Peroxisome Proliferator-Activated Receptor Gamma. Trends in Pharmacological Sciences 28.
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Neural correlates of valence generalization in an affective conditioning paradigm. Behavioural Brain Research 29.
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An integrated map of structural variation in 2,504 human genomes. Nature 30.
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A global reference for human genetic variation. Nature 31.
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Bioenergetic cues shift FXR splicing towards FXRα2 to modulate hepatic lipolysis and fatty acid metabolism. Molecular Metabolism 32.
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34 (39), pp. 5046 - 5054 (2015)
A long non-coding RNA links calreticulin-mediated immunogenic cell removal to RB1 transcription. Oncogene 33.
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Compassion-based emotion regulation up-regulates experienced positive affect and associated neural networks. Social, Cognitive and Affective Neuroscience 34.
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97 (3), pp. 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 35.
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50, pp. 162 - 170 (2015)
Network analysis for a network disorder: The emerging role of graph theory in the study of epilepsy. Epilepsy and Behavior 36.
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160, pp. 134 - 140 (2015)
Eyes only? Perceiving eye contact is neither sufficient nor necessary for attentional capture by face direction. Acta Psychologica 37.
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Prediction of human population responses to toxic compounds by a collaborative competition. Nat Biotechnol 38.
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47 (9), pp. 1020 - 1029 (2015)
Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options. Nature Genetics 39.
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Distinct neural networks underlying empathy for pleasant and unpleasant touch. Cortex 40.
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Insight into miRNA biogenesis with RNA sequencing. Oncotarget