E. Klopocki

发表

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

A. Visel, J. Opitz, D. Horn, 2015, Cell.

Phenotypic 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

Damian Smedley, Paul N. Schofield, Sebastian Bauer, 2012, Disease Models & Mechanisms.

Characterization 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

J. Utikal, J. Becker, E. Klopocki, 2019, International journal of cancer.

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

P. Robinson, S. Mundlos, D. Parkhomchuk, 2013, Blood.

Key Point : A carrier of a deleterious splice site mutation in PIGT acquired a second hit in PIGT and developed PNH

P. Robinson, S. Mundlos, D. Parkhomchuk, 2013 .

PIGT mutation and a somatic mutation in A case of paroxysmal nocturnal hemoglobinuria caused by a germline

P. Robinson, S. Mundlos, D. Parkhomchuk, 2013 .

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

S. Mundlos, P. Krawitz, E. Klopocki, 2012, Journal of Medical Genetics.

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

D. Horn, S. Mundlos, H. Ropers, 2007, European Journal of Pediatrics.

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

M. Nöthen, J. Ott, Wei Chen, 2020, Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie.

Distinct secreted Frizzled receptor protein 1 staining pattern in patients with hyperplastic polyposis coli syndrome.

N. Hyman, E. Dahl, A. Hartmann, 2004, Archives of pathology & laboratory medicine.

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype

E. Klopocki, J. Kühnisch, S. Störk, 2019, Human mutation.

Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

E. Klopocki, E. König, T. Kadiyska, 2018, Molecular Syndromology.

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

A. Ekici, E. Klopocki, C. Thiel, 2018, European journal of medical genetics.

Craniosynostosis associated with Partial Monosomy 2q37.3 and Partial Trisomy 5q35 including MSX2

er, E. Klopocki, W. Kress, 2015 .

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

D. Horn, S. Mundlos, Hitesh Shah, 2011, Journal of Medical Genetics.

Microduplications Upstream of Msx2 Are Associated with a Phenocopy of Cleidocranial Dysplasia Copy-number Variation

S. Mundlos, C. Ott, E. Klopocki, 2022 .

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

D. Horn, Soma Das, D. Wieczorek, 2011, Journal of Medical Genetics.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

G. Mortier, B. Menten, E. Klopocki, 2012, Genetics in Medicine.

Catel-Manzke syndrome: two new patients and a critical review of the literature.

E. Klopocki, A. Caliebe, H. Manzke, 2008, European journal of medical genetics.

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism☆

E. Klopocki, L. Graul-Neumann, A. Kaindl, 2014, Meta gene.

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.

D. Horn, S. Mundlos, M. Spielmann, 2011, European journal of medical genetics.

European School of Genetic Medicine 3 rd Course in Next Generation Sequencing

P. Robinson, S. Mundlos, P. Krawitz, 2014 .

Deletion and point mutations of PTHLH cause brachydactyly type E.

S. Mundlos, T. de Ravel, Y. Gillerot, 2010, American journal of human genetics.

Generation 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.

K. Lesch, E. Klopocki, G. Ziegler, 2021, Stem cell research.

A BACH2‐BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE‐1

R. Reinhardt, E. Klopocki, T. Burmeister, 2011, Genes, chromosomes & cancer.

De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.

S. Mundlos, E. Klopocki, L. Graul-Neumann, 2009, European journal of medical genetics.

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature

B. Ertl-Wagner, H. Voss, E. Klopocki, 2007, European Journal of Pediatrics.

Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci

K. Seeger, E. Klopocki, S. Doelken, 2013, American journal of medical genetics. Part A.

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37

E. Klopocki, A. Greinacher, C. Urban, 2017, Haematologica.

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

D. Horn, S. Mundlos, E. Klopocki, 2012, European Journal of Human Genetics.

Microarray expression profiling of fndc3a zebrafish mutants

E. Klopocki, D. Liedtke, 2022, microPublication biology.

Investigation of alpl expression and Tnap-activity in zebrafish implies conserved functions during skeletal and neuronal development

E. Klopocki, F. Jakob, D. Liedtke, 2020, Scientific Reports.

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

S. Mundlos, H. Brunner, C. Ott, 2010, Human mutation.

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

S. Mundlos, Hitesh Shah, E. Klopocki, 2012, European Journal of Human Genetics.

CRISPR/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).

E. Klopocki, S. Ergün, S. Rost, 2021, Stem cell research.

Generation 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.

H. Duff, E. Klopocki, S. Ergün, 2020, Stem cell research.

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities

M. Schuelke, E. Klopocki, W. Kress, 2007, Muscle & nerve.

Brachydactyly type E (BDE) due to deletion and point mutations of PTHLH (parathyroid hormone-like hormone)

E. Klopocki, O. Hiort, P. Seemann, 2010 .

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

D. Horn, E. Klopocki, A. Rauch, 2011, European journal of medical genetics.

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.

B. Seliger, P. Krawitz, E. Klopocki, 2015, Human molecular genetics.

Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

J. Finsterer, S. Uhrig, E. Klopocki, 2012, BMC Medical Genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

Atypical 22q11.2 Microduplication with “Typical” Signs and Overgrowth

E. Klopocki, M. Fischer, 2021, Cytogenetic and Genome Research.

Title Expanded clinical spectrum in HNF1B-MODY

D. Horn, A. Grüters, E. Klopocki, 2009 .

Tissue-Nonspecific Alkaline Phosphatase—A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease

E. Klopocki, F. Jakob, C. Hofmann, 2020, Biomolecules.

Noncoding copy-number variations are associated with congenital limb malformation

D. Horn, S. Mundlos, M. Spielmann, 2017, Genetics in Medicine.

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

D. Horn, S. Mundlos, M. Spielmann, 2015, Journal of Medical Genetics.

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

P. Robinson, S. Mundlos, M. Spielmann, 2012, American journal of human genetics.

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

S. Mundlos, C. Ott, E. Klopocki, 2008, Journal of Medical Genetics.

Prevalence and prognostic significance of chromosome 21 amplifications in children with relapsed acute lymphoblastic leukemia: the ALL-REZ BFM study group

S. Mundlos, C. Eckert, G. Henze, 2010 .

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

D. Horn, E. Klopocki, A. Tzschach, 2014, Muscle & nerve.

A novel two‐nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky–Pudlak syndrome

E. Klopocki, S. Stritt, H. Schulze, 2017, Pediatric blood & cancer.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion

B. Chung, B. Fernandez, R. Weksberg, 2013, American journal of medical genetics. Part A.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

T. Haaf, E. Klopocki, W. Shehata-Dieler, 2014, Clinical genetics.

Composition and dosage of a multipartite enhancer cluster control developmental expression of Indian hedgehog

A. Visel, S. Mundlos, M. Vingron, 2017, Nature Genetics.

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

S. Mundlos, F. Garaci, Mahim Jain, 2011, American journal of human genetics.

ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects

E. Klopocki, D. Liedtke, S. Geuer, 2019, Scientific Reports.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

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

G. Musso, R. Siebert, S. Cook, 2013, American journal of human genetics.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis

D. Horn, S. Uhrig, E. Klopocki, 2013, Clinical genetics.

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis

D. Messroghli, E. Klopocki, C. Maack, 2020, Journal of clinical medicine.

Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder

P. Bugert, E. Klopocki, R. Knöfler, 2018, TH Open.

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

S. Mundlos, A. Wilkie, E. Klopocki, 2009, Nature Genetics.

D. Horn, H. Van Esch, M. Bonin, 2010, American journal of medical genetics. Part A.

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

Reinhard Ullmann, Stefan Mundlos, Lynn Greenhalgh, 2007, American journal of human genetics.

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

M. Nöthen, J. Ott, Wei Chen, 2020, Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie.

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

Gerhard K. H. Przemeck, H. Fuchs, T. Wieland, 2016, Mammalian Genome.

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5

T. Eggermann, E. Klopocki, M. Hempel, 2020, Clinical genetics.

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

G. Kristiansen, E. Dahl, E. Klopocki, 2006, Oncogene.

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

Irina Klaman, Arndt Hartmann, Peter J Wild, 2004, International journal of oncology.

Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing.

K. Huse, D. Horn, J. Hampe, 2010, Gene.

Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

S. Mundlos, H. Ropers, E. Klopocki, 2006, European Journal of Human Genetics.

CNVs of noncoding cis-regulatory elements in human disease.

M. Spielmann, E. Klopocki, 2013, Current opinion in genetics & development.

Partial trisomy 1q41‐qter and partial trisomy 9pter‐9q21.32 in a newborn infant: An array CGH analysis and review

M. Spielmann, E. Klopocki, I. Nanda, 2014, American journal of medical genetics. Part A.

Expanding the phenotype of alopecia–contractures–dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature

B. Ertl-Wagner, H. Voss, E. Klopocki, 2008, European Journal of Pediatrics.

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

A. Monaco, D. Horn, T. Strom, 2010, Human mutation.

On the traces of tcf12: Investigation of the gene expression pattern during development and cranial suture patterning in zebrafish (Danio rerio)

E. Klopocki, M. Zink, D. Liedtke, 2019, PloS one.

A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2

P. Robinson, S. Mundlos, H. Ropers, 2006, American journal of medical genetics. Part A.

Fndc3a (Fibronectin Domain Containing Protein 3A) influences median fin fold development and caudal fin regeneration in zebrafish by ECM alteration

E. Klopocki, D. Liedtke, S. Geuer, 2018, bioRxiv.

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

S. Mundlos, M. Spielmann, E. Klopocki, 2014, Orphanet Journal of Rare Diseases.

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

D. Horn, A. Grüters, E. Klopocki, 2009, The Journal of clinical endocrinology and metabolism.

HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents

D. Horn, A. Grüters, E. Klopocki, 2008, Diabetes Care.

Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome

G. Gaedicke, E. Klopocki, H. Schulze, 2012, Haematologica.

A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures.

D. Horn, S. Mundlos, E. Klopocki, 2008, European journal of medical genetics.

Combined partial trisomy 11q and partial monosomy 10p in a 19‐year‐old female patient: Phenotypic and genotypic findings

R. Heller, E. Klopocki, W. Kiess, 2011, American journal of medical genetics. Part A.

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

S. Mundlos, S. Uhrig, M. Speicher, 2007, American journal of human genetics.

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

Uwe Heinrich, Maximilian Muenke, B. Ertl-Wagner, 2008, American journal of medical genetics. Part A.

Copy-number variations, noncoding sequences, and human phenotypes.

S. Mundlos, E. Klopocki, 2011, Annual review of genomics and human genetics.

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

S. Mundlos, V. Praphanphoj, B. P. Hennig, 2010, European Journal of Human Genetics.

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

S. Baylin, C. Pilarsky, E. Dahl, 2004, Laboratory Investigation.

Frequent loss of SFRP1 expression in multiple human solid tumours: association with aberrant promoter methylation in renal cell carcinoma

E. Dahl, G. Sauter, R. Simon, 2007, Oncogene.

Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia‐derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption

Reinhard Ullmann, Crispin Miller, Crispin J. Miller, 2007, Genes, chromosomes & cancer.

Systematic identification and molecular characterization of genes differentially expressed in breast and ovarian cancer

S. Gelling, J. Nährig, H. Höfler, 2005, The Journal of pathology.

ITIH5, a novel member of the inter-alpha-trypsin inhibitor heavy chain family is downregulated in breast cancer.

Irina Klaman, Bernd Hinzmann, Glen Kristiansen, 2004, Cancer letters.

Exploration of zebrafish larvae as an alternative whole-animal model for nephrotoxicity testing.

A. Mally, E. Klopocki, M. Diefenbacher, 2021, Toxicology letters.

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

Ulrich Keilholz, Zhian Liu, I. Tinhofer, 2010, Journal of Translational Medicine.

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

Gerhard K. H. Przemeck, H. Fuchs, T. Wieland, 2016, Mammalian Genome.

A complex phenotype with cystic renal disease.

S. Mundlos, M. Taupitz, E. Klopocki, 2006, Kidney international.

Generation of a ST3GAL3 null mutant induced pluripotent stem cell (iPSC) line (UKWMPi002-A-3) by CRISPR/Cas9 genome editing.

K. Lesch, E. Klopocki, T. Vanmierlo, 2023, Stem cell research.

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

S. Christian, D. Horn, J. Golden, 2008, Nature genetics.

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

S. Mundlos, M. Spielmann, E. Klopocki, 2014, Clinical genetics.

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

S. Mundlos, C. Ott, E. Klopocki, 2009, American journal of human genetics.

Generation 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.

E. Klopocki, N. Üçeyler, Maximilian Breyer, 2023, Stem Cell Research.

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

S. Mundlos, E. Klopocki, S. Doelken, 2013, European Journal of Human Genetics.

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

S. Mundlos, E. Klopocki, R. Ullmann, 2008, Clinical genetics.

Generation of multiple human iPSC lines from peripheral blood mononuclear cells of two SLC2A3 deletion and two SLC2A3 duplication carriers.

K. Lesch, E. Klopocki, S. Herms, 2021, Stem Cell Research.

Novel variants in FERMT3 and RASGRP2—Genetic linkage in Glanzmann‐like bleeding disorders

E. Klopocki, H. Schulze, G. Strauss, 2019, Pediatric blood & cancer.

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

E. Klopocki, A. Whetton, J. Dorsman, 2012, Familial Cancer.

State-of-the-Art Targeted High-Throughput Sequencing for Detecting Inherited Platelet Disorders

E. Klopocki, H. Schulze, Jennifer Gebetsberger, 2023, Hämostaseologie.

Composition and dosage of a multipartite enhancer cluster control developmental expression of Indian hedgehog

A. Visel, S. Mundlos, M. Vingron, 2017, Nature Genetics.

Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis

E. Klopocki, R. Wegner, H. Tönnies, 2007, Prenatal diagnosis.

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

E. Klopocki, W. Kress, L. Graul-Neumann, 2017, Molecular Syndromology.

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

B. Hartmann, D. Horn, E. Klopocki, 2014, Orphanet Journal of Rare Diseases.

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

M. Rieder, L. Peltonen, D. Altshuler, 2008, Nature Genetics.

Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment

E. Klopocki, H. Schulze, G. Strauss, 2023, Hämostaseologie.