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Author Details

Eva Klopocki
Institute for Human Genetics, University of Wurzburg
2004
109
36
PMIDPaper TitleJournal TitlePublished Year
36640471Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in Fabry disease.Stem Cell Res2023
37611607Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.Hamostaseologie2023
37611606State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders.Hamostaseologie2023
37079968Generation of induced pluripotent stem cell line (UKWNLi008) derived from a patient carrying a c.1678C>G variant in the transient receptor potential cation channel subfamily A member (TRPA1) gene potentially associated with small fiber neuropathy.Stem Cell Res2023
36746102Generation of a ST3GAL3 null mutant induced pluripotent stem cell (iPSC) line (UKWMPi002-A-3) by CRISPR/Cas9 genome editing.Stem Cell Res2023
35325818Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease.Stem Cell Res2022
36254247Microarray expression profiling of <i>fndc3a</i> zebrafish mutants.MicroPubl Biol2022
34492570Generation of multiple human iPSC lines from peripheral blood mononuclear cells of two SLC2A3 deletion and two SLC2A3 duplication carriers.Stem Cell Res2021
33486346Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with neurodevelopmental disorders using CRISPR/Cas9.Stem Cell Res2021
33640690CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM).Stem Cell Res2021
33722575Exploration of zebrafish larvae as an alternative whole-animal model for nephrotoxicity testing.Toxicol Lett2021
32521499Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.Stem Cell Res2020
31724816Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.Pediatr Blood Cancer2020
33172359A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.Z Kinder Jugendpsychiatr Psychother2020
33302551Tissue-Nonspecific Alkaline Phosphatase-A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease.Biomolecules2020
33472199Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.Cytogenet Genome Res2020
33294970Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.Clin Genet2020
32659924New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.J Clin Med2020
32770041Investigation of alpl expression and Tnap-activity in zebrafish implies conserved functions during skeletal and neuronal development.Sci Rep2020
30873613Characterization of six Merkel cell polyomavirus-positive Merkel cell carcinoma cell lines: Integration pattern suggest that large T antigen truncating events occur before or during integration.Int J Cancer2019
31527654ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects.Sci Rep2019
31188878On the traces of tcf12: Investigation of the gene expression pattern during development and cranial suture patterning in zebrafish (Danio rerio).PLoS One2019
30924982Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.Hum Mutat2019
30733657Interstitial Deletion of 5q22.2q23.1 Including <i>APC</i> and <i>TSSK1B</i> in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia.Mol Syndromol2019
30731422Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C&gt;A variation in the SCN10A gene potentially associated with small fiber neuropathy.Stem Cell Res2019
29236091Noncoding copy-number variations are associated with congenital limb malformation.Genet Med2018
31249973Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.TH Open2018
30384131Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C&gt;T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5.Stem Cell Res2018
29407414Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.Eur J Med Genet2018
27917594A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.Pediatr Blood Cancer2017
28611549Mutation c.943G&gt;T (p.Ala315Ser) in <i>FGFR2</i> Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.Mol Syndromol2017
28846100Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).Nat Genet2017
28550182Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.Haematologica2017
26803617Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.Mamm Genome2016
25712132Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.Hum Mol Genet2015
26011646DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.Clin Genet2015
25959774Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.Cell2015
26032025Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.J Med Genet2015
24122788De novo partial deletion in GRID2 presenting with complicated spastic paraplegia.Muscle Nerve2014
25606391Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.Meta Gene2014
25231166Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.Orphanet J Rare Dis2014
25332050Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.Orphanet J Rare Dis2014
24311106Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review.Am J Med Genet A2014
24326587X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.Hum Genet2014
24456159Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.Clin Genet2014
24129431Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.Eur J Hum Genet2014
23104991Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.Dis Model Mech2013
23601627CNVs of noncoding cis-regulatory elements in human disease.Curr Opin Genet Dev2013
23768516Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.Am J Hum Genet2013
23733340A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.Blood2013
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Collaborators

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Max Planck Institute for Molecular Genetics
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Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
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Luitgard Graul-Neumann
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Co-authored papers 12
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The Barcelona Institute of Science and Technology
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Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
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Charite-Universitatsmedizin Berlin
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Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
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University of Minnesota
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Birgit Ertl-Wagner
The Hospital for Sick Children
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Kerstin Kutsche
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Axel Visel
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Tim M Strom
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Maximilian Muenke
National Human Genome Research Institute, The National Institutes of Health
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Anthony D Whetton
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Nicole de Leeuw
Radboud University Medical Center
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Bruno Dallapiccola
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Petter Str??mme
University of Oslo
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Paul N Schofield
University of Cambridge
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Paul J R Barton
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Matthias Heinig
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Reiner Siebert
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