| The single-cell transcriptional landscape of mammalian organogenesis J Cao, M Spielmann, X Qiu, X Huang, DM Ibrahim, AJ Hill, F Zhang, ... Nature 566 (7745), 496-502, 2019 | 2651 | 2019 |
| Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati, E Klopocki, ... Cell 161 (5), 1012-1025, 2015 | 2117 | 2015 |
| Formation of new chromatin domains determines pathogenicity of genomic duplications M Franke, DM Ibrahim, G Andrey, W Schwarzer, V Heinrich, R Schöpflin, ... Nature 538 (7624), 265-269, 2016 | 685 | 2016 |
| Structural variation in the 3D genome M Spielmann, DG Lupiáñez, S Mundlos Nature Reviews Genetics 19 (7), 453-467, 2018 | 626 | 2018 |
| A human cell atlas of fetal gene expression J Cao, DR O’day, HA Pliner, PD Kingsley, M Deng, RM Daza, MA Zager, ... Science 370 (6518), eaba7721, 2020 | 529 | 2020 |
| Breaking TADs: how alterations of chromatin domains result in disease DG Lupiáñez, M Spielmann, S Mundlos Trends in Genetics 32 (4), 225-237, 2016 | 460 | 2016 |
| 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 | 287 | 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 | 282 | 2014 |
| Deletions, inversions, duplications: engineering of structural variants using CRISPR/Cas in mice K Kraft, S Geuer, AJ Will, WL Chan, C Paliou, M Borschiwer, I Harabula, ... Cell reports 10 (5), 833-839, 2015 | 246 | 2015 |
| Comparison of exome and genome sequencing technologies for the complete capture of protein‐coding regions SH Lelieveld, M Spielmann, S Mundlos, JA Veltman, C Gilissen Human mutation 36 (8), 815-822, 2015 | 209 | 2015 |
| Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state S Smajić, CA Prada-Medina, Z Landoulsi, J Ghelfi, S Delcambre, ... Brain 145 (3), 964-978, 2022 | 203 | 2022 |
| Enhanced susceptibility to infections in a diabetic wound healing model T Hirsch, M Spielmann, B Zuhaili, T Koehler, M Fossum, HU Steinau, ... BMC surgery 8, 1-8, 2008 | 181 | 2008 |
| Human beta‐defensin‐3 promotes wound healing in infected diabetic wounds T Hirsch, M Spielmann, B Zuhaili, M Fossum, M Metzig, T Koehler, ... The Journal of Gene Medicine: A cross‐disciplinary journal for research on …, 2009 | 180 | 2009 |
| Embryo-scale, single-cell spatial transcriptomics SR Srivatsan, MC Regier, E Barkan, JM Franks, JS Packer, P Grosjean, ... Science 373 (6550), 111-117, 2021 | 179 | 2021 |
| Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis BK Kragesteen, M Spielmann, C Paliou, V Heinrich, R Schöpflin, ... Nature genetics 50 (10), 1463-1473, 2018 | 172 | 2018 |
| Deletions of chromosomal regulatory boundaries are associated with congenital disease J Ibn-Salem, S Köhler, MI Love, HR Chung, N Huang, ME Hurles, ... Genome biology 15, 1-16, 2014 | 171 | 2014 |
| A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) E Giorgio, D Robyr, M Spielmann, E Ferrero, E Di Gregorio, D Imperiale, ... Human molecular genetics 24 (11), 3143-3154, 2015 | 164 | 2015 |
| Looking beyond the genes: the role of non-coding variants in human disease M Spielmann, S Mundlos Human molecular genetics 25 (R2), R157-R165, 2016 | 159 | 2016 |
| Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus M Spielmann, F Brancati, PM Krawitz, PN Robinson, DM Ibrahim, ... The American Journal of Human Genetics 91 (4), 629-635, 2012 | 140 | 2012 |
| Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip±cleft palate and cleft palate only KU Ludwig, AC Böhmer, J Bowes, M Nikolić, N Ishorst, N Wyatt, ... Human molecular genetics 26 (4), 829-842, 2017 | 111 | 2017 |
