| Sustainable data analysis with Snakemake F Mölder, KP Jablonski, B Letcher, MB Hall, CH Tomkins-Tinch, V Sochat, ... F1000Research 10, 2021 | 960 | 2021 |
| Bioconda: sustainable and comprehensive software distribution for the life sciences B Grüning, R Dale, A Sjödin, BA Chapman, J Rowe, CH Tomkins-Tinch, ... Nature methods 15 (7), 475-476, 2018 | 853 | 2018 |
| 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 | 362 | 2015 |
| Mason–a read simulator for second generation sequencing data M Holtgrewe Technical Report FU Berlin, 2010 | 267 | 2010 |
| RazerS 3: faster, fully sensitive read mapping D Weese, M Holtgrewe, K Reinert Bioinformatics 28 (20), 2592-2599, 2012 | 191 | 2012 |
| Engineering a scalable high quality graph partitioner M Holtgrewe, P Sanders, C Schulz 2010 IEEE International Symposium on Parallel & Distributed Processing …, 2010 | 141 | 2010 |
| Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ... The American Journal of Human Genetics 106 (6), 872-884, 2020 | 107 | 2020 |
| A novel and well-defined benchmarking method for second generation read mapping M Holtgrewe, AK Emde, D Weese, K Reinert BMC bioinformatics 12, 1-10, 2011 | 101 | 2011 |
| Fiona: a parallel and automatic strategy for read error correction MH Schulz, D Weese, M Holtgrewe, V Dimitrova, S Niu, K Reinert, ... Bioinformatics 30 (17), i356-i363, 2014 | 94 | 2014 |
| Increased risk of severe clinical course of COVID-19 in carriers of HLA-C* 04: 01 J Weiner, P Suwalski, M Holtgrewe, A Rakitko, C Thibeault, M Mueller, ... EClinicalMedicine 40, 2021 | 73 | 2021 |
| Interpretable clinical genomics with a likelihood ratio paradigm PN Robinson, V Ravanmehr, JOB Jacobsen, D Danis, XA Zhang, ... The American Journal of Human Genetics 107 (3), 403-417, 2020 | 72 | 2020 |
| Genome alignment with graph data structures: a comparison B Kehr, K Trappe, M Holtgrewe, K Reinert BMC bioinformatics 15, 1-20, 2014 | 56 | 2014 |
| VarFish: comprehensive DNA variant analysis for diagnostics and research M Holtgrewe, O Stolpe, M Nieminen, S Mundlos, A Knaus, U Kornak, ... Nucleic acids research 48 (W1), W162-W169, 2020 | 55 | 2020 |
| Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies MD Fountain, DS Oleson, ME Rech, L Segebrecht, JV Hunter, ... Genetics in medicine 21 (8), 1797-1807, 2019 | 54 | 2019 |
| Pathogenic variants associated with dilated cardiomyopathy predict outcome in pediatric myocarditis F Seidel, M Holtgrewe, N Al-Wakeel-Marquard, B Opgen-Rhein, J Dartsch, ... Circulation: Genomic and Precision Medicine 14 (4), e003250, 2021 | 38 | 2021 |
| Sustainable data analysis with Snakemake. F1000Res. 2021; 10: 33 F Mölder, KP Jablonski, B Letcher, MB Hall, CH Tomkins-Tinch, V Sochat, ... PubMed Abstract| Publisher Full Text, 0 | 36 | |
| Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3 J Kühnisch, C Herbst, N Al‐Wakeel‐Marquard, J Dartsch, M Holtgrewe, ... Clinical genetics 96 (6), 549-559, 2019 | 35 | 2019 |
| Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, MR Santos, K Neveling, ... Scientific reports 8 (1), 14611, 2018 | 31 | 2018 |
| Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders F Mochel, A Rastetter, B Ceulemans, K Platzer, S Yang, DN Shinde, ... Brain 143 (12), 3564-3573, 2020 | 28 | 2020 |
| Combining callers improves the detection of copy number variants from whole-genome sequencing M Coutelier, M Holtgrewe, M Jäger, R Flöttman, MA Mensah, ... European Journal of Human Genetics 30 (2), 178-186, 2022 | 26 | 2022 |
Dieter BeuleBerlin Institute of Health, Charité在 bih-charite.de 的电子邮件经过验证
