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Genetics

D-Index
47
Citations
9078
World Ranking
4119
National Ranking
275

Overview

Eva Klopocki is affiliated with the University of Würzburg in Germany and has produced extensive research in the fields of biochemistry, genetics, molecular biology, and medicine. Their scholarly work spans multiple subfields, including molecular biology, genetics, physiology, cardiology and cardiovascular medicine, and cell biology.

Their research focuses on several key topics, reflecting a broad interest in genetic and cellular mechanisms. These topics include:

  • Lysosomal Storage Disorders Research
  • Congenital heart defects research
  • Cellular transport and secretion
  • Genetics and Neurodevelopmental Disorders
  • CRISPR and Genetic Engineering
  • Alkaline Phosphatase Research Studies
  • Pluripotent Stem Cells Research

Klopocki's recent publications demonstrate a focus on biochemical and disease-related studies. Notable recent papers include:

  • Tissue-Nonspecific Alkaline Phosphatase-A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease, 2020, Biomolecules
  • Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data, 2024, Brain Communications
  • Investigation of alpl expression and Tnap-activity in zebrafish implies conserved functions during skeletal and neuronal development, 2020, Scientific Reports
  • Exploration of zebrafish larvae as an alternative whole-animal model for nephrotoxicity testing, 2021, Toxicology Letters
  • A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q, 2020, Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie

They frequently publish in journals such as Stem Cell Research, Toxicology Letters, Hämostaseologie, Bone Reports, and Human Genomics. Stem Cell Research features prominently among their publication venues with ten papers.

Klopocki has collaborated extensively with several researchers. Their frequent co-authors include Daniel Liedtke, Nurcan Üçeyler, Maximilian Breyer, Katharina Klug, and Frank Edenhofer.

Best Publications

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

    Darío G. Lupiáñez;Darío G. Lupiáñez;Katerina Kraft;Katerina Kraft;Verena Heinrich;Peter Krawitz;Peter Krawitz

  • Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

    Eva Klopocki;Harald Schulze;Gabriele Strauß;Claus-Eric Ott

  • Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

    Juliane Najm;Denise Horn;Isabella Wimplinger;Jeffrey A Golden

  • Aberrant methylation of the Wnt antagonist SFRP1 in breast cancer is associated with unfavourable prognosis

    J Veeck;D Niederacher;H An;H An;E Klopocki

  • The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

    Fanny Kortüm;Soma Das;Max Flindt;Deborah J Morris-Rosendahl

  • Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

    Chayim Can Schell-Apacik;Kristina Wagner;Moritz Bihler;Birgit Ertl-Wagner

  • Loss of SFRP1 is associated with breast cancer progression and poor prognosis in early stage tumors.

    Eva Klopocki;Glen Kristiansen;Peter J. Wild;Irina Klaman

  • Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients.

    Zhian Liu;Alberto Fusi;Eva Klopocki;Alexander Schmittel

  • Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy

    Anne-Karin Arndt;Sebastian Schafer;Jorg-Detlef Drenckhahn;M. Khaled Sabeh

  • Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer.

    Robert Stoehr;Christoph Wissmann;Hiromu Suzuki;Ruth Knuechel

  • Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

    Katarina Dathe;Klaus W. Kjaer;Anja Brehm;Anja Brehm;Anja Brehm;Peter Meinecke

  • 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

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

    Denise Horn;Johannes Kapeller;Núria Rivera-Brugués;Ute Moog

  • Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

    Ingo Kurth;Eva Klopocki;Sigmar Stricker;Jolieke van Oosterwijk

  • A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome

    Eva Klopocki;Claus-Eric Ott;Niels Benatar;Reinhard Ullmann

  • Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

    Malte Spielmann;Francesco Brancati;Francesco Brancati;Peter M. Krawitz;Peter N. Robinson

  • Deletion and point mutations of PTHLH cause brachydactyly type E.

    Eva Klopocki;Eva Klopocki;Bianca P. Hennig;Katarina Dathe;Randi Koll

  • Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog)

    Anja J Will;Anja J Will;Giulia Cova;Giulia Cova;Marco Osterwalder;Wing-Lee Chan;Wing-Lee Chan

  • Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young

    Klemens Raile;Eva Klopocki;Martin Holder;Theda Wessel

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

    Eva Klopocki;Silke Lohan;Silke Lohan;Silke Lohan;Francesco Brancati;Francesco Brancati;Randi Koll

Frequent Co-Authors

Stefan Mundlos
Stefan Mundlos Max Planck Society
Reinhard Ullmann
Reinhard Ullmann Max Planck Society
Sigmar Stricker
Sigmar Stricker Freie Universität Berlin
Edgar Dahl
Edgar Dahl RWTH Aachen University
Arndt Hartmann
Arndt Hartmann University of Erlangen-Nuremberg
Jochen Hecht
Jochen Hecht Centre for Genomic Regulation
Axel Visel
Axel Visel Lawrence Berkeley National Laboratory
Hans-Hilger Ropers
Hans-Hilger Ropers Max Planck Society
Klaus-Peter Lesch
Klaus-Peter Lesch University of Würzburg
Peter N. Robinson
Peter N. Robinson The Jackson Laboratory

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