| 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 | 539 | 2009 |
| Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia–absent radius syndrome E Klopocki, H Schulze, G Strauß, CE Ott, J Hall, F Trotier, S Fleischhauer, ... The American Journal of Human Genetics 80 (2), 232-240, 2007 | 354 | 2007 |
| Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2 K Dathe, KW Kjaer, A Brehm, P Meinecke, P Nürnberg, JC Neto, ... The American Journal of Human Genetics 84 (4), 483-492, 2009 | 197 | 2009 |
| 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 | 168 | 2014 |
| miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules R Bhushan, J Grünhagen, J Becker, PN Robinson, CE Ott, P Knaus The international journal of biochemistry & cell biology 45 (3), 696-705, 2013 | 156 | 2013 |
| Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders A Michalk, S Stricker, J Becker, R Rupps, T Pantzar, J Miertus, G Botta, ... The American Journal of Human Genetics 82 (2), 464-476, 2008 | 147 | 2008 |
| A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome E Klopocki, CE Ott, N Benatar, R Ullmann, S Mundlos, K Lehmann Journal of medical genetics 45 (6), 370-375, 2008 | 141 | 2008 |
| 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 | 139 | 2011 |
| Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants DR Barnes, MA Rookus, L McGuffog, G Leslie, TM Mooij, J Dennis, ... Genetics in Medicine 22 (10), 1653-1666, 2020 | 101 | 2020 |
| 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 | 86 | 2019 |
| 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 | 82 | 2011 |
| Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia CE Ott, G Leschik, F Trotier, L Brueton, HG Brunner, W Brussel, ... Human mutation 31 (8), E1587-E1593, 2010 | 78 | 2010 |
| 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 | 73 | 2015 |
| Biaxial cell stimulation: A mechanical validation FH Bieler, CE Ott, MS Thompson, R Seidel, S Ahrens, DR Epari, ... Journal of biomechanics 42 (11), 1692-1696, 2009 | 58 | 2009 |
| Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness VL Patel, EL Busch, TM Friebel, A Cronin, G Leslie, L McGuffog, J Adlard, ... Cancer research 80 (3), 624-638, 2020 | 54 | 2020 |
| Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia … WL Chan, M Steiner, T Witkos, J Egerer, B Busse, S Mizumoto, JM Pestka, ... PLoS Genetics 14 (3), e1007242, 2018 | 54 | 2018 |
| BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation I Schreiber, G Dörpholz, CE Ott, B Kragesteen, N Schanze, CT Lee, ... Scientific reports 7 (1), 17192, 2017 | 51 | 2017 |
| Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1 B Fischer, B Callewaert, P Schröter, PJ Coucke, C Schlack, CE Ott, ... Molecular genetics and metabolism 112 (4), 310-316, 2014 | 46 | 2014 |
| The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta S Schwill, P Seppelt, J Grünhagen, CE Ott, M Jugold, A Ruhparwar, ... Journal of vascular surgery 57 (6), 1628-1636. e3, 2013 | 43 | 2013 |
| Efficiency of computer-aided facial phenotyping (DeepGestalt) in individuals with and without a genetic syndrome: diagnostic accuracy study JT Pantel, N Hajjir, M Danyel, J Elsner, AT Abad-Perez, P Hansen, ... Journal of medical Internet research 22 (10), e19263, 2020 | 40 | 2020 |
