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Year Number of Results
2008 1
2010 2
2011 1
2013 1
2014 1
2016 2
2017 1
2018 1
2019 4
2020 1
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14 results
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Page 1
MutationTaster2: mutation prediction for the deep-sequencing age.
Schwarz JM, Cooper DN, Schuelke M, Seelow D. Schwarz JM, et al. Nat Methods. 2014 Apr;11(4):361-2. doi: 10.1038/nmeth.2890. Nat Methods. 2014. PMID: 24681721 No abstract available.
MutationTaster evaluates disease-causing potential of sequence alterations.
Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. Schwarz JM, et al. Nat Methods. 2010 Aug;7(8):575-6. doi: 10.1038/nmeth0810-575. Nat Methods. 2010. PMID: 20676075 No abstract available.
Phenotero: Annotate as you write.
Hombach D, Schwarz JM, Knierim E, Schuelke M, Seelow D, Köhler S. Hombach D, et al. Among authors: schwarz jm. Clin Genet. 2019 Feb;95(2):287-292. doi: 10.1111/cge.13471. Epub 2018 Dec 7. Clin Genet. 2019. PMID: 30417324
MutationDistiller: user-driven identification of pathogenic DNA variants.
Hombach D, Schuelke M, Knierim E, Ehmke N, Schwarz JM, Fischer-Zirnsak B, Seelow D. Hombach D, et al. Among authors: schwarz jm. Nucleic Acids Res. 2019 Jul 2;47(W1):W114-W120. doi: 10.1093/nar/gkz330. Nucleic Acids Res. 2019. PMID: 31106342 Free PMC article.
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.
Schwarz JM, Hombach D, Köhler S, Cooper DN, Schuelke M, Seelow D. Schwarz JM, et al. Nucleic Acids Res. 2019 Jul 2;47(W1):W106-W113. doi: 10.1093/nar/gkz327. Nucleic Acids Res. 2019. PMID: 31106382 Free PMC article.
A dynamic view on agricultural trade patterns and virtual water flows in Peru.
Schwarz J, Mathijs E, Maertens M. Schwarz J, et al. Sci Total Environ. 2019 Sep 15;683:719-728. doi: 10.1016/j.scitotenv.2019.05.118. Epub 2019 May 14. Sci Total Environ. 2019. PMID: 31150892
A systematic, large-scale comparison of transcription factor binding site models.
Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D. Hombach D, et al. Among authors: schwarz jm. BMC Genomics. 2016 May 21;17:388. doi: 10.1186/s12864-016-2729-8. BMC Genomics. 2016. PMID: 27209209 Free PMC article.
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.
Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M. Schottmann G, et al. Among authors: schwarz jm. Mitochondrion. 2017 Nov;37:46-54. doi: 10.1016/j.mito.2017.06.007. Epub 2017 Jul 4. Mitochondrion. 2017. PMID: 28687512
GeneDistiller--distilling candidate genes from linkage intervals.
Seelow D, Schwarz JM, Schuelke M. Seelow D, et al. Among authors: schwarz jm. PLoS One. 2008;3(12):e3874. doi: 10.1371/journal.pone.0003874. Epub 2008 Dec 5. PLoS One. 2008. PMID: 19057649 Free PMC article.
A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.
Schwarz JM, Pedrazza L, Stenzel W, Rosa JL, Schuelke M, Straussberg R. Schwarz JM, et al. Mol Genet Metab. 2020 Sep 4:S1096-7192(20)30190-6. doi: 10.1016/j.ymgme.2020.08.008. Online ahead of print. Mol Genet Metab. 2020. PMID: 32921582
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