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Automated inference of molecular mechanisms of disease from amino acid substitutions., , , , , , , and . Bioinformatics, 25 (21): 2744-2750 (2009)When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants., , , , , , , , , and . Bioinformatics, 33 (14): i389-i398 (2017)FATHMM-XF: accurate prediction of pathogenic point mutations via extended features., , , , , and . Bioinformatics, 34 (3): 511-513 (2018)A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing., , , , , , , , , and 2 other author(s). PLoS Computational Biology, (2014)An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome., , , , , , and . BMC Bioinformatics, 18 (1): 442:1-442:8 (2017)Mining clinical attributes of genomic variants through assisted literature curation in Egas., , , , , , and . Database, (2016)Mutational signatures and mutable motifs in cancer genomes., , , , , , , and . Briefings in Bioinformatics, 19 (6): 1085-1101 (2018)CRAVAT: cancer-related analysis of variants toolkit., , , , , , , , and . Bioinformatics, 29 (5): 647-648 (2013)Predicting the functional consequences of cancer-associated amino acid substitutions., , , , and . Bioinformatics, 29 (12): 1504-1510 (2013)In Silico Discrimination of Single Nucleotide Polymorphisms and Pathological Mutations in Human Gene Promoter Regions by Means of Local DNA Sequence Context and Regularity., , , , , and . In Silico Biology, 6 (1-2): 23-34 (2006)