| 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 | 2292 | 2015 |
| Identifying facial phenotypes of genetic disorders using deep learning Y Gurovich, Y Hanani, O Bar, G Nadav, N Fleischer, D Gelbman, ... Nature medicine 25 (1), 60-64, 2019 | 701 | 2019 |
| Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish A Hruscha, P Krawitz, A Rechenberg, V Heinrich, J Hecht, C Haass, ... Development 140 (24), 4982-4987, 2013 | 605 | 2013 |
| Clinical diagnostics in human genetics with semantic similarity searches in ontologies S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ... The American Journal of Human Genetics 85 (4), 457-464, 2009 | 587 | 2009 |
| Improved exome prioritization of disease genes through cross-species phenotype comparison PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ... Genome research 24 (2), 340-348, 2014 | 398 | 2014 |
| 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 | 385 | 2010 |
| Mutations in WNT1 cause different forms of bone fragility K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ... The American Journal of Human Genetics 92 (4), 565-574, 2013 | 318 | 2013 |
| 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 | 296 | 2014 |
| Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome D Kotlarz, N Ziętara, G Uzel, T Weidemann, CJ Braun, J Diestelhorst, ... Journal of Experimental Medicine 210 (3), 433-443, 2013 | 242 | 2013 |
| Multimodal machine learning workflows for prediction of psychosis in patients with clinical high-risk syndromes and recent-onset depression N Koutsouleris, DB Dwyer, F Degenhardt, C Maj, MF Urquijo-Castro, ... JAMA psychiatry 78 (2), 195-209, 2021 | 230 | 2021 |
| PDE3A mutations cause autosomal dominant hypertension with brachydactyly PG Maass, A Aydin, FC Luft, C Schächterle, A Weise, S Stricker, ... Nature genetics 47 (6), 647-653, 2015 | 205 | 2015 |
| Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation PM Krawitz, Y Murakami, J Hecht, U Krüger, SE Holder, GR Mortier, ... The American Journal of Human Genetics 91 (1), 146-151, 2012 | 173 | 2012 |
| GestaltMatcher facilitates rare disease matching using facial phenotype descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... Nature genetics 54 (3), 349-357, 2022 | 151 | 2022 |
| Strategies for exome and genome sequence data analysis in disease‐gene discovery projects PN Robinson, P Krawitz, S Mundlos Clinical genetics 80 (2), 127-132, 2011 | 143 | 2011 |
| 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 | 139 | 2012 |
| PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome PM Krawitz, Y Murakami, A Rieß, M Hietala, U Krüger, N Zhu, T Kinoshita, ... The American Journal of Human Genetics 92 (4), 584-589, 2013 | 137 | 2013 |
| Differential localization and identification of a critical aspartate suggest non-redundant proteolytic functions of the presenilin homologues SPPL2b and SPPL3 P Krawitz, C Haffner, R Fluhrer, H Steiner, B Schmid, C Haass Journal of Biological Chemistry 280 (47), 39515-39523, 2005 | 123 | 2005 |
| Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome Y Murakami, N Kanzawa, K Saito, PM Krawitz, S Mundlos, PN Robinson, ... Journal of Biological Chemistry 287 (9), 6318-6325, 2012 | 122 | 2012 |
| 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 | 122 | 2010 |
| Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation MF Howard, Y Murakami, AT Pagnamenta, C Daumer-Haas, B Fischer, ... The American Journal of Human Genetics 94 (2), 278-287, 2014 | 121 | 2014 |
Stefan MundlosInstitut für Medizinische Genetik und Humangenetik, CharitéE-mailová adresa ověřena na: molgen.mpg.de
