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Max Schubach - Publications

Affiliations: 
Center for Bioinformatics ZBIT Eberhard Karls Universität Tübingen, Tübingen, Baden-Württemberg, Germany 
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28 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Schubach M, Maass T, Nazaretyan L, Röner S, Kircher M. CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions. Nucleic Acids Research. 52: D1143-D1154. PMID 38183205 DOI: 10.1093/nar/gkad989  0.35
2022 Schubach M, Nazaretyan L, Kircher M. The Regulatory Mendelian Mutation score for GRCh38. Gigascience. 12. PMID 37083939 DOI: 10.1093/gigascience/giad024  0.378
2021 Rentzsch P, Schubach M, Shendure J, Kircher M. CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome Medicine. 13: 31. PMID 33618777 DOI: 10.1186/s13073-021-00835-9  0.313
2020 Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulous-Soares I, Yosef N, Ye CJ, Pollard KS, et al. lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature Protocols. PMID 32641802 DOI: 10.1038/S41596-020-0333-5  0.395
2020 Petrini A, Mesiti M, Schubach M, Frasca M, Danis D, Re M, Grossi G, Cappelletti L, Castrignanò T, Robinson PN, Valentini G. parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants. Gigascience. 9. PMID 32444882 DOI: 10.1093/Gigascience/Giaa052  0.392
2019 Kircher M, Xiong C, Martin B, Schubach M, Inoue F, Bell RJA, Costello JF, Shendure J, Ahituv N. Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. Nature Communications. 10: 3583. PMID 31395865 DOI: 10.1038/S41467-019-11526-W  0.435
2019 Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, et al. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. American Journal of Human Genetics. PMID 31353024 DOI: 10.1016/J.Ajhg.2019.07.002  0.378
2019 Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, ... ... Schubach M, et al. PEDIA: prioritization of exome data by image analysis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31164752 DOI: 10.1038/S41436-019-0566-2  0.38
2019 Shigaki D, Adato O, Adhikar AN, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar DP, Schubach M, Xiong C, Yan Z, Boyle AP, et al. Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay. Human Mutation. PMID 31106481 DOI: 10.1002/Humu.23797  0.386
2018 Holtgrewe M, Knaus A, Hildebrand G, Pantel JT, Santos MRL, Neveling K, Goldmann J, Schubach M, Jäger M, Coutelier M, Mundlos S, Beule D, Sperling K, Krawitz PM. Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports. 8: 14611. PMID 30279461 DOI: 10.1038/S41598-018-33066-X  0.373
2018 Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, et al. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine. 10: 3. PMID 29310717 DOI: 10.1186/S13073-017-0510-5  0.375
2017 Notaro M, Schubach M, Robinson PN, Valentini G. Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods. Bmc Bioinformatics. 18: 449. PMID 29025394 DOI: 10.1186/S12859-017-1854-Y  0.364
2017 Schubach M, Re M, Robinson PN, Valentini G. Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants. Scientific Reports. 7: 2959. PMID 28592878 DOI: 10.1038/S41598-017-03011-5  0.379
2016 Jäger M, Schubach M, Zemojtel T, Reinert K, Church DM, Robinson PN. Alternate-locus aware variant calling in whole genome sequencing. Genome Medicine. 8: 130. PMID 27964746 DOI: 10.1186/S13073-016-0383-Z  0.381
2016 Smedley D, Schubach M, Jacobsen JO, Köhler S, Zemojtel T, Spielmann M, Jäger M, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, et al. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. American Journal of Human Genetics. PMID 27569544 DOI: 10.1016/J.Ajhg.2016.07.005  0.447
2016 Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, et al. Strømme Syndrome is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation. PMID 26820108 DOI: 10.1002/Humu.22960  0.43
2016 Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, et al. Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. Plos One. 11: e0145951. PMID 26766544 DOI: 10.1371/Journal.Pone.0145951  0.477
2015 Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN. Next-generation diagnostics and disease-gene discovery with the Exomiser. Nature Protocols. 10: 2004-2015. PMID 26562621 DOI: 10.1038/Nprot.2015.124  0.438
2015 Peveling-Oberhag J, Wolters F, Döring C, Walter D, Sellmann L, Scholtysik R, Lucioni M, Schubach M, Paulli M, Biskup S, Zeuzem S, Küppers R, Hansmann ML. Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations. Bmc Cancer. 15: 773. PMID 26498442 DOI: 10.1186/S12885-015-1766-Z  0.322
2015 Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, et al. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. European Journal of Human Genetics : Ejhg. PMID 26153216 DOI: 10.1038/Ejhg.2015.151  0.429
2015 Kettwig M, Schubach M, Zimmermann FA, Klinge L, Mayr JA, Biskup S, Sperl W, Gärtner J, Huppke P. From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1. Mitochondrion. 21: 12-8. PMID 25583628 DOI: 10.1016/J.Mito.2015.01.001  0.408
2015 Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence? European Journal of Human Genetics : Ejhg. 23: 409-12. PMID 24939587 DOI: 10.1038/Ejhg.2014.118  0.455
2014 Gadzicki D, Döcker D, Schubach M, Menzel M, Schmorl B, Stellmer F, Biskup S, Bartholdi D. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. Clinical Genetics. PMID 25522177 DOI: 10.1111/Cge.12544  0.355
2014 Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, ... ... Schubach M, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53  0.448
2014 Döcker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, Bartholdi D. Further delineation of the SATB2 phenotype. European Journal of Human Genetics : Ejhg. 22: 1034-9. PMID 24301056 DOI: 10.1038/Ejhg.2013.280  0.421
2014 Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European Journal of Human Genetics : Ejhg. 22: 99-104. PMID 23591405 DOI: 10.1038/Ejhg.2013.72  0.475
2012 Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. 53: 1387-98. PMID 22612257 DOI: 10.1111/J.1528-1167.2012.03516.X  0.377
2010 Mitra S, Schubach M, Huson DH. Short clones or long clones? A simulation study on the use of paired reads in metagenomics. Bmc Bioinformatics. 11: S12. PMID 20122183 DOI: 10.1186/1471-2105-11-S1-S12  0.341
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