|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
|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
|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
|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
|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
|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
|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
|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), 1-8, 2011
|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
|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
|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
|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
|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
|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
|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
|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
|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
|A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT|
PM Krawitz, B Höchsmann, Y Murakami, B Teubner, U Krüger, E Klopocki, ...
Blood, The Journal of the American Society of Hematology 122 (7), 1312-1315, 2013
|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
|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