| 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 | 2061 | 2015 |
| 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 | 355 | 2007 |
| Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum J Najm, D Horn, I Wimplinger, JA Golden, VV Chizhikov, J Sudi, ... Nature genetics 40 (9), 1065-1067, 2008 | 320 | 2008 |
| Aberrant methylation of the Wnt antagonist SFRP1 in breast cancer is associated with unfavourable prognosis J Veeck, D Niederacher, H An, E Klopocki, F Wiesmann, B Betz, O Galm, ... Oncogene 25 (24), 3479-3488, 2006 | 302 | 2006 |
| The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis F Kortüm, S Das, M Flindt, DJ Morris-Rosendahl, I Stefanova, A Goldstein, ... Journal of medical genetics 48 (6), 396-406, 2011 | 259 | 2011 |
| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients CC Schell‐Apacik, K Wagner, M Bihler, B Ertl‐Wagner, U Heinrich, ... American journal of medical genetics Part A 146 (19), 2501-2511, 2008 | 224 | 2008 |
| Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients Z Liu, A Fusi, E Klopocki, A Schmittel, I Tinhofer, A Nonnenmacher, ... Journal of translational medicine 9, 1-8, 2011 | 216 | 2011 |
| Loss of SFRP1 is associated with breast cancer progression and poor prognosis in early stage tumors E Klopocki, G Kristiansen, PJ Wild, I Klaman, E Castanos-Velez, G Singer, ... International journal of oncology 25 (3), 641-649, 2004 | 211 | 2004 |
| Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy AK Arndt, S Schafer, JD Drenckhahn, MK Sabeh, ER Plovie, A Caliebe, ... The American Journal of Human Genetics 93 (1), 67-77, 2013 | 201 | 2013 |
| 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 chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer R Stoehr, C Wissmann, H Suzuki, R Knuechel, RC Krieg, E Klopocki, ... Laboratory investigation 84 (4), 465-478, 2004 | 190 | 2004 |
| Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits D Horn, J Kapeller, N Rivera‐Brugués, U Moog, B Lorenz‐Depiereux, ... Human mutation 31 (11), E1851-E1860, 2010 | 170 | 2010 |
| Frequent loss of SFRP1 expression in multiple human solid tumours: association with aberrant promoter methylation in renal cell carcinoma E Dahl, F Wiesmann, M Woenckhaus, R Stoehr, PJ Wild, J Veeck, ... Oncogene 26 (38), 5680-5691, 2007 | 156 | 2007 |
| Deletion and point mutations of PTHLH cause brachydactyly type E E Klopocki, BP Hennig, K Dathe, R Koll, T de Ravel, E Baten, E Blom, ... The American Journal of Human Genetics 86 (3), 434-439, 2010 | 143 | 2010 |
| 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 | 142 | 2008 |
| 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 | 141 | 2012 |
| Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia I Kurth, E Klopocki, S Stricker, J van Oosterwijk, S Vanek, J Altmann, ... Nature genetics 41 (8), 862-863, 2009 | 133 | 2009 |
| Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis E Klopocki, S Lohan, F Brancati, R Koll, A Brehm, P Seemann, K Dathe, ... The American Journal of Human Genetics 88 (1), 70-75, 2011 | 121 | 2011 |
| Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young K Raile, E Klopocki, M Holder, T Wessel, A Galler, D Deiss, D Müller, ... The Journal of Clinical Endocrinology & Metabolism 94 (7), 2658-2664, 2009 | 117 | 2009 |
| Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog) AJ Will, G Cova, M Osterwalder, WL Chan, L Wittler, N Brieske, V Heinrich, ... Nature genetics 49 (10), 1539-1545, 2017 | 114 | 2017 |
