Klopocki, Eva

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Lupiáñez, D. G., Kraft, K., Heinrich, V., Krawitz, P., Brancati, F., Klopocki, E., Horn, D., Kayserili, H., Opitz, J. M., Laxova, R., et al. (2015) · Cell

Genomics and Chromatin DynamicsGenomic variations and chromosomal abnormalities

Cited by 2,132

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., et al. (2007) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital limb and hand anomalies

Cited by 360

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Horn, D., Kapeller, J., Rivera-Brugués, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., et al. (2010) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 140

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., Dathe, K., Stricker, S., Hecht, J., Bosse, K., et al. (2011) · The American Journal of Human Genetics

Congenital limb and hand anomaliesCraniofacial Disorders and Treatments

Cited by 104