| Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ... Nature genetics 42 (10), 827-829, 2010 | 379 | 2010 |
| 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 | 376 | 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 | 303 | 2016 |
| Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ... Science translational medicine 6 (252), 252ra123-252ra123, 2014 | 285 | 2014 |
| Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis CM Arends, J Galan-Sousa, K Hoyer, W Chan, M Jäger, K Yoshida, ... Leukemia 32 (9), 1908-1919, 2018 | 179 | 2018 |
| L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes T Penzkofer, M Jäger, M Figlerowicz, R Badge, S Mundlos, PN Robinson, ... Nucleic acids research, gkw925, 2016 | 140 | 2016 |
| MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3′ UTR and coding-sequence binding sites CE Ott, J Grünhagen, M Jäger, D Horbelt, S Schwill, K Kallenbach, G Guo, ... PloS one 6 (1), e16250, 2011 | 140 | 2011 |
| Microindel detection in short-read sequence data P Krawitz, C Rödelsperger, M Jäger, L Jostins, S Bauer, PN Robinson Bioinformatics 26 (6), 722-729, 2010 | 123 | 2010 |
| 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 |
| J annovar: AJ ava library for exome annotation M Jäger, K Wang, S Bauer, D Smedley, P Krawitz, PN Robinson Human mutation 35 (5), 548-555, 2014 | 86 | 2014 |
| Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing M Jäger, CE Ott, J Grünhagen, J Hecht, H Schell, S Mundlos, GN Duda, ... BMC genomics 12, 1-12, 2011 | 86 | 2011 |
| MiR‐497∼ 195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling J Grünhagen, R Bhushan, E Degenkolbe, M Jäger, P Knaus, S Mundlos, ... Journal of Bone and Mineral Research 30 (5), 796-808, 2015 | 74 | 2015 |
| De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction N Ehmke, L Graul-Neumann, L Smorag, R Koenig, L Segebrecht, ... The American Journal of Human Genetics 101 (5), 833-843, 2017 | 66 | 2017 |
| Live-cell imaging of circadian clock protein dynamics in CRISPR-generated knock-in cells CH Gabriel, M Del Olmo, A Zehtabian, M Jäger, S Reischl, H van Dijk, ... Nature communications 12 (1), 3796, 2021 | 56 | 2021 |
| Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation B Höchsmann, Y Murakami, M Osato, A Knaus, M Kawamoto, N Inoue, ... The Journal of Clinical Investigation 129 (12), 5123-5136, 2019 | 52 | 2019 |
| Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations DM Ibrahim, P Hansen, C Rödelsperger, AC Stiege, SC Doelken, D Horn, ... Genome research 23 (12), 2091-2102, 2013 | 40 | 2013 |
| 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 | 35 | 2022 |
| 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 | 32 | 2018 |
| Functional interest of an articulating spacer in two-stage infected total knee arthroplasty revision T Classen, M Von Knoch, M Wernsmann, S Landgraeber, F Löer, M Jäger Orthopaedics & Traumatology: Surgery & Research 100 (4), 409-412, 2014 | 28 | 2014 |
| Computational exome and genome analysis PN Robinson, RM Piro, M Jager CRC Press, 2017 | 25* | 2017 |
Peter RobinsonBerlin Institute of Health, Charité - Universitätsmedizin, Berlin, GermanyVerified email at bih-charite.de
