| CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores P Rentzsch, M Schubach, J Shendure, M Kircher Genome medicine 13, 1-12, 2021 | 494 | 2021 |
| Targeted next generation sequencing as a diagnostic tool in epileptic disorders JR Lemke, E Riesch, T Scheurenbrand, M Schubach, C Wilhelm, I Steiner, ... Epilepsia 53 (8), 1387-1398, 2012 | 407 | 2012 |
| Next-generation diagnostics and disease-gene discovery with the Exomiser D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ... Nature protocols 10 (12), 2004-2015, 2015 | 377 | 2015 |
| A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ... The American Journal of Human Genetics 99 (3), 595-606, 2016 | 302 | 2016 |
| Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies N Glöckle, S Kohl, J Mohr, T Scheurenbrand, A Sprecher, N Weisschuh, ... European journal of human genetics 22 (1), 99-104, 2014 | 290 | 2014 |
| Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution M Kircher, C Xiong, B Martin, M Schubach, F Inoue, RJA Bell, JF Costello, ... Nature communications 10 (1), 3583, 2019 | 209 | 2019 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 125 | 2014 |
| Mutation detection in patients with retinal dystrophies using targeted next generation sequencing N Weisschuh, AK Mayer, TM Strom, S Kohl, N Glöckle, M Schubach, ... PloS one 11 (1), e0145951, 2016 | 113 | 2016 |
| Imbalance-aware machine learning for predicting rare and common disease-associated non-coding variants M Schubach, M Re, PN Robinson, G Valentini Scientific reports 7 (1), 2959, 2017 | 112 | 2017 |
| Further delineation of the SATB2 phenotype D Döcker, M Schubach, M Menzel, M Munz, C Spaich, S Biskup, ... European Journal of Human Genetics 22 (8), 1034-1039, 2014 | 110 | 2014 |
| PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 95 | 2019 |
| lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements MG Gordon, F Inoue, B Martin, M Schubach, V Agarwal, S Whalen, ... Nature protocols 15 (8), 2387-2412, 2020 | 91 | 2020 |
| Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ... Genome medicine 10, 1-13, 2018 | 88 | 2018 |
| From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1 M Kettwig, M Schubach, FA Zimmermann, L Klinge, JA Mayr, S Biskup, ... Mitochondrion 21, 12-18, 2015 | 59 | 2015 |
| Haploinsufficiency of the notch ligand DLL1 causes variable neurodevelopmental disorders B Fischer-Zirnsak, L Segebrecht, M Schubach, P Charles, E Alderman, ... The American Journal of Human Genetics 105 (3), 631-639, 2019 | 54 | 2019 |
| Loss-of-function variants in HIVEP2 are a cause of intellectual disability S Srivastava, H Engels, I Schanze, K Cremer, T Wieland, M Menzel, ... European Journal of Human Genetics 24 (4), 556-561, 2016 | 53 | 2016 |
| Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope … K Sonntag, H Hashimoto, M Eyrich, M Menzel, M Schubach, D Döcker, ... Journal of translational medicine 16, 1-13, 2018 | 52 | 2018 |
| CADD v1. 7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions M Schubach, T Maass, L Nazaretyan, S Röner, M Kircher Nucleic acids research 52 (D1), D1143-D1154, 2024 | 47 | 2024 |
| Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay D Shigaki, O Adato, AN Adhikari, S Dong, A Hawkins‐Hooker, F Inoue, ... Human mutation 40 (9), 1280-1291, 2019 | 47 | 2019 |
| Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF I Filges, E Bruder, K Brandal, S Meier, DE Undlien, TR Waage, I Hoesli, ... Human mutation 37 (4), 359-363, 2016 | 44 | 2016 |
