MutationTaster2021
Steinhaus, Robin, Proft, Sebastian, Schuelke, Markus, Cooper, David N, Schwarz, Jana Marie, Seelow, Dominik
Published in Nucleic acids research (02.07.2021)
Published in Nucleic acids research (02.07.2021)
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Journal Article
MutationTaster2: mutation prediction for the deep-sequencing age
Schwarz, Jana Marie, Cooper, David N, Schuelke, Markus, Seelow, Dominik
Published in Nature methods (01.04.2014)
Published in Nature methods (01.04.2014)
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Journal Article
MutationTaster evaluates disease-causing potential of sequence alterations
Seelow, Dominik, Schwarz, Jana Marie, Rödelsperger, Christian, Schuelke, Markus
Published in Nature methods (01.08.2010)
Published in Nature methods (01.08.2010)
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Journal Article
MutationDistiller: user-driven identification of pathogenic DNA variants
Hombach, Daniela, Schuelke, Markus, Knierim, Ellen, Ehmke, Nadja, Schwarz, Jana Marie, Fischer-Zirnsak, Björn, Seelow, Dominik
Published in Nucleic acids research (02.07.2019)
Published in Nucleic acids research (02.07.2019)
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Journal Article
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants
Schwarz, Jana Marie, Hombach, Daniela, Köhler, Sebastian, Cooper, David N, Schuelke, Markus, Seelow, Dominik
Published in Nucleic acids research (02.07.2019)
Published in Nucleic acids research (02.07.2019)
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Journal Article
A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism
Schwarz, Jana Marie, Pedrazza, Leonardo, Stenzel, Werner, Rosa, Jose Luis, Schuelke, Markus, Straussberg, Rachel
Published in Molecular genetics and metabolism (01.09.2020)
Published in Molecular genetics and metabolism (01.09.2020)
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Journal Article
A systematic, large-scale comparison of transcription factor binding site models
Hombach, Daniela, Schwarz, Jana Marie, Robinson, Peter N, Schuelke, Markus, Seelow, Dominik
Published in BMC genomics (21.05.2016)
Published in BMC genomics (21.05.2016)
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Journal Article
Public data sources for regulatory genomic features
Garda, Samuele, Schwarz, Jana Marie, Schuelke, Markus, Leser, Ulf, Seelow, Dominik
Published in Medizinische Genetik (01.06.2021)
Published in Medizinische Genetik (01.06.2021)
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Journal Article
Novel sequencing technologies and bioinformatic tools for deciphering the non-coding genome
Schwarz, Jana Marie, Lüpken, Richard, Seelow, Dominik, Kehr, Birte
Published in Medizinische Genetik (01.06.2021)
Published in Medizinische Genetik (01.06.2021)
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Journal Article
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia
Schottmann, Gudrun, Picker-Minh, Sylvie, Schwarz, Jana Marie, Gill, Esther, Rodenburg, Richard J T, Stenzel, Werner, Kaindl, Angela M, Schuelke, Markus
Published in Mitochondrion (01.11.2017)
Published in Mitochondrion (01.11.2017)
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Journal Article
Erratum to: A systematic, large-scale comparison of transcription factor binding site models
Hombach, Daniela, Schwarz, Jana Marie, Robinson, Peter N, Schuelke, Markus, Seelow, Dominik
Published in BMC genomics (20.07.2016)
Published in BMC genomics (20.07.2016)
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Journal Article
Phenotero: annotate as you write
Hombach, Daniela, Schwarz, Jana Marie, Knierim, Ellen, Schuelke, Markus, Seelow, Dominik, Koehler, Sebastian
Published in bioRxiv (16.05.2018)
Published in bioRxiv (16.05.2018)
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