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Eva Klopocki
Eva Klopocki
Verified email at uni-wuerzburg.de
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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
17302015
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
3322007
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
2972008
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
2852006
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
2382011
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
1972004
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
1962008
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
1952011
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
1872004
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
1832009
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
1772013
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
1542010
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
1512007
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
1332008
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
1282012
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
1262010
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
1262009
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
1082013
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
1062011
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
1062009
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