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Funktionen
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Universitätsprofessor/in, Institut für Humangenetik
Aktuelle Veranstaltungen
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SoSe 2025
Vergangene Veranstaltungen (max. 10)
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WiSe 2024
- Biologie für Mediziner (1. FS)
- Biologie für Mediziner, Teil Genetik u. Evolution, PV
- Begleitvorlesung zum Praktikum Biologie für Mediziner (1. FS)
- Humangenetik, scheinpflichtiges Seminar
- Anleitung zu wissenschaftlichem Arbeiten - Molekulare Tumorgenetik
- Humangenetik, begleitende Vorlesung zum Seminar
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SoSe 2024
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WiSe 2023
Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.
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Presence of tumor DNA in aqueous humor is correlated with high risk uveal melanomaIn: Scientific Reports , Jg. 15 2025, Nr. 1, 19406DOI (Open Access)
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A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastomaIn: Communications Biology , Jg. 7 2024, Nr. 1, 919DOI (Open Access)
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Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastomaIn: Communications Biology , Jg. 7 2024, Nr. 1, 1119DOI (Open Access)
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Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish familyIn: European Journal of Medical Genetics (EJMG) , Jg. 70 2024, 104956DOI (Open Access)
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Adjuvant therapy for children treated by enucleation at diagnosis of retinoblastomaIn: EJC Paediatric Oncology , Jg. 1 2023, 100004DOI (Open Access)
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Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndromeIn: Familial Cancer , Jg. 22 2023, Nr. 2, S. 193 – 202DOI (Open Access)
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Release of Cell-Free Tumor DNA in the Plasma of Uveal Melanoma Patients Under RadiotherapyIn: Investigative Ophthalmology & Visual Science, IOVS , Jg. 64 2023, Nr. 13, 35DOI (Open Access)
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Comparing efficacy and side effects of two systemic chemotherapy regimens for eye-preserving therapy in children with retinoblastomaIn: Pediatric Blood and Cancer , Jg. 69 2022, Nr. 2, e29362DOI (Open Access)
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Exact model comparisons in the plausibility frameworkIn: Journal of Statistical Planning and Inference , Jg. 217 2022, S. 224 – 240DOI (Open Access)
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersIn: Brain: A Journal of Neurology , Jg. 145 2022, Nr. 9, S. 3274 – 3287DOI (Open Access)
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RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal DifferentiationIn: Cancers , Jg. 14 2022, Nr. 9, 2166DOI (Open Access)
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TFF1 in Aqueous Humor : A Potential New Biomarker for RetinoblastomaIn: Cancers , Jg. 14 2022, Nr. 3, 677DOI, Online Volltext (Open Access)
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Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNAIn: Cancer Medicine , Jg. 10 2021, Nr. 17, S. 5974 – 5982DOI, Online Volltext (Open Access)
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Eye tumors in childhood as first sign of tumor predisposition syndromes : Insights from an observational study conducted in Germany and AustriaIn: Cancers , Jg. 13 2021, Nr. 8, S. 1876DOI, Online Volltext (Open Access)
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Introduction of a variant classification system for analysis of genotype-phenotype relationships in heritable retinoblastomaIn: Cancers , Jg. 13 2021, Nr. 7, S. 1605DOI, Online Volltext (Open Access)
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13q deletion syndrome resulting from balanced chromosomal rearrangement in father : The significance of parental karyotypingIn: Molecular Cytogenetics , Jg. 13 2020, Nr. 1, 31DOI (Open Access)
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Corrigendum: “Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity””In: Progress in Retinal and Eye Research , Jg. 78 2020, 100857DOI (Open Access)
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Differentiation Protocol for 3D Retinal Organoids, Immunostaining and Signal QuantitationIn: Current Protocols in Stem Cell Biology , Jg. 55 2020, Nr. 1, S. e120DOI (Open Access)
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Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterationsIn: Acta Neuropathologica , Jg. 139 2020, Nr. 2, S. 243 – 257DOI (Open Access)
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Psychosocial impact of prognostic genetic testing in uveal melanoma patients : a controlled prospective clinical observational studyIn: BMC Psychology , Jg. 8 2020, Nr. 1, S. 8DOI (Open Access)
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RetinoblastomIn: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft , Jg. 117 2020, Nr. 4, S. 389 – 402
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The impact of RB1 genotype on incidence of second tumours in heritable retinoblastomaIn: European Journal of Cancer (EJC) , Jg. 133 2020, S. 47 – 55
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Chromosome 3 is a valid marker for prognostic testing of biopsy material from uveal melanoma later treated by brachytherapyIn: Biomarkers , Jg. 24 2019, Nr. 2, S. 134 – 140
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Conservative management of retinoblastoma : Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”In: Progress in Retinal and Eye Research , Jg. 73 2019, 100764DOI (Open Access)
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Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritabilityIn: Pediatric Blood and Cancer , Jg. 66 2019, Nr. 5, e27599
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GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal HemangiomaIn: Cancers , Jg. 11 2019, Nr. 7, S. 1031DOI, Online Volltext (Open Access)
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Retinoblastoma with late metastatic spread : a case reportIn: Pediatric Blood and Cancer , Jg. 66 2019, Nr. 6, e27656
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DNA methylation-based classification of central nervous system tumoursIn: Nature , Jg. 555 2018, Nr. 7697, S. 469 – 474DOI (Open Access)
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The Interdisciplinary Diagnosis and Treatment of Intraocular TumorsIn: Deutsches Ärzteblatt international , Jg. 115 2018, Nr. 7, S. 106 – 111DOI (Open Access)
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The landscape of genomic alterations across childhood cancersIn: Nature , Jg. 555 2018, Nr. 7696, S. 321 – 327DOI (Open Access)
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Childhood cancer predisposition syndromes : A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and HematologyIn: American Journal of Medical Genetics, Part A , Jg. 173 2017, Nr. 4, S. 1017 – 1037
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Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors : a report from the German reference centerIn: Pediatric Blood and Cancer , Jg. 64 2017, Nr. 1, S. 71 – 80
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Comparing the prognostic value of BAP1 mutation pattern, chromosome 3 status, and BAP1 immunohistochemistry in uveal melanomaIn: The American Journal of Surgical Pathology , Jg. 40 2016, Nr. 6, S. 796 – 805
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Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian DiseaseIn: Human Mutation , Jg. 37 2016, Nr. 5, S. 488 – 494DOI (Open Access)
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Hereditary Diffuse Infiltrating RetinoblastomaIn: Ophthalmic Genetics , Jg. 37 2016, Nr. 1, S. 95 – 97
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How Eye-Preserving Therapy Affects Long-Term Overall Survival in Heritable Retinoblastoma SurvivorsIn: Journal of Clinical Oncology (JCO) , Jg. 34 2016, Nr. 26, S. 3183 – 3188
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Psychosocial impact of prognostic genetic testing in the care of uveal melanoma patients : protocol of a controlled prospective clinical observational studyIn: BMC Cancer , Jg. 16 2016, S. 408DOI (Open Access)
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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A DysfunctionIn: The American Journal of Human Genetics , Jg. 96 2015, Nr. 5, S. 765 – 774DOI (Open Access)
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Neoadjuvant/adjuvant treatment of high-risk retinoblastoma : a report from the German Retinoblastoma Referral CentreIn: British Journal of Ophthalmology (BJO) , Jg. 99 2015, Nr. 7, S. 949 – 953
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Pediatric second primary malignancies after retinoblastoma treatmentIn: Pediatric Blood and Cancer , Jg. 62 2015, Nr. 10, S. 1799 – 1804DOI (Open Access)
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndromeIn: Genetics in Medicine , Jg. 16 2014, Nr. 9, S. 720 – 724
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BAP1 germline mutation in two first grade family members with uveal melanomaIn: British Journal of Ophthalmology (BJO) , Jg. 98 2014, Nr. 2, S. 224 – 227DOI, Online Volltext (Open Access)
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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown SyndromeIn: The American Journal of Human Genetics , Jg. 95 2014, Nr. 6, S. 698 – 707DOI (Open Access)
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Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adultsIn: Experimental Eye Research , Jg. 124 2014, S. 48 – 55
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Aktuelles zur klinischen Bedeutung genetischer Veränderungen bei malignen Melanomen der UveaIn: Klinische Monatsblätter für Augenheilkunde , Jg. 230 2013, Nr. 7, S. 686 – 691
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Characterisation of retinoblastomas without RB1 mutations: Genomic, gene expression, and clinical studiesIn: The Lancet Oncology , Jg. 14 2013, Nr. 4, S. 327 – 334
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Chemoreduction improves eye retention in patients with retinoblastoma : a report from the German Retinoblastoma Reference CentreIn: British Journal of Ophthalmology (BJO) , Jg. 97 2013, Nr. 10, S. 1277 – 1283
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Diagnose und Behandlung des Retinoblastoms: aktuelle Konzepte zur sicheren Tumorkontrolle bei Erhalt des SehvermögensIn: Klinische Monatsblätter für Augenheilkunde , Jg. 230 2013, Nr. 3, S. 232 – 242
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Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3In: Nature Genetics , Jg. 45 2013, Nr. 8, S. 933 – 936
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Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1In: PLoS ONE , Jg. 8 2013, Nr. 9, S. e74159DOI (Open Access)
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Sporadic unilateral retinoblastoma or first sign of bilateral disease?In: British Journal of Ophthalmology (BJO) , Jg. 97 2013, Nr. 4, S. 475 – 480
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Trilateral retinoblastoma in a patient with Peutz-Jeghers syndromeIn: American Journal of Medical Genetics, Part A , Jg. 161 2013, Nr. 5, S. 1096 – 1100
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Ultradeep sequencing detects GNAQ and GNA11 mutations in cell-free DNA from plasma of patients with uveal melanomaIn: Cancer Medicine , Jg. 2 2013, Nr. 2, S. 208 – 215
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Current Concepts for Diagnosis and Treatment of Retinoblastoma in Germany : Aiming for Safe Tumor Control and Vision PreservationIn: Klinische Pädiatrie , Jg. 224 2012, Nr. 6, S. 339 – 347
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Erhaltend heilen : interdisziplinäre Ansätze zur augenerhaltenden Therapie des einseitigen RetinoblastomsIn: Unikate: Berichte aus Forschung und Lehre 2012, Nr. 42: Translationale Krebsforschung: Auf dem Weg zu neuen Therapien, S. 116 – 123DOI, Online Volltext (Open Access)
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First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeIn: Molecular Syndromology , Jg. 2 2012, Nr. 2, S. 53 – 59
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyIn: The American Journal of Human Genetics , Jg. 90 2012, Nr. 2, S. 369 – 377DOI (Open Access)
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Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma : a long-term follow-up studyIn: British Journal of Cancer (BJC) , Jg. 106 2012, Nr. 6, S. 1171 – 1176
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Retinoblastoma tumorigenesis : genetic and epigenetic changes walk hand in handIn: Future Oncology , Jg. 8 2012, Nr. 5, S. 525 – 528
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Sporadic unilateral retinoblastoma or first sign of bilateral disease?
44th Congress of the International Society of Paediatric Oncology (SIOP) 2012, 5th–8th October, 2012, London, UK,In: Pediatric Blood and Cancer , Jg. 59 2012, Nr. 6, S. 1064 – 1064 -
Treacher Collins syndrome : clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literatureIn: European Journal of Pediatrics , Jg. 171 2012, Nr. 11, S. 1611 – 1618
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Anthropogenic greenhouse gas contribution to flood risk in England and Wales in autumn 2000In: Nature , Jg. 470 2011, Nr. 7334, S. 382 – 385
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Clinical utility gene card for : RetinoblastomaIn: European Journal of Human Genetics , Jg. 19 2011, Nr. 3DOI (Open Access)
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EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylationIn: BMC Cancer , Jg. 11 2011, S. 380DOI, Online Volltext (Open Access)
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Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletionsIn: European Journal of Human Genetics , Jg. 19 2011, Nr. 9, S. 947 – 958DOI (Open Access)
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Loss at chromosome arm 16q in retinoblastoma : confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted regionIn: Genes, Chromosomes and Cancer , Jg. 50 2011, Nr. 5, S. 327 – 337
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeIn: Nature Genetics , Jg. 43 2011, Nr. 1, S. 20 – 22
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Neue Entwicklungen zur Genetik und Therapie des RetinoblastomsIn: Klinische Monatsblätter für Augenheilkunde , Jg. 228 2011, Nr. 7, S. 593 – 598
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A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemiaIn: Blood , Jg. 115 2010, Nr. 12, S. 2462 – 2472
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Chemosensitivity of conjunctival melanoma cell lines
Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Onkologie. Berlin, 1.–5. Oktober 2010,In: Onkologie , Jg. 33 2010, Nr. Suppl. 6, S. 66 -
Imprinting des RB1-Gens und „Parent-of-Origin-Effekte“ beim RetinoblastomIn: Medizinische Genetik , Jg. 22 2010, Nr. 4, S. 429 – 433
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Imprinting of RB1 (the new kid on the block)In: Briefings in Functional Genomics and Proteomics , Jg. 9 2010, Nr. 4, S. 347 – 353
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The miR-17-92 gene cluster is amplified and overexpressed in retinoblastomaIn: Klinische Pädiatrie , Jg. 221 2009, Nr. 3, S. 195
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Neurotrophin receptor expression in human primary retinoblastomas and retinoblastoma cell linesIn: Pediatric Blood and Cancer , Jg. 50 2008, Nr. 2, S. 218 – 222
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RetinoblastomaIn: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft , Jg. 103 2006, Nr. 1, S. 59 – 76
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Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effectIn: European Journal of Cancer , Jg. 41 2005, Nr. 5, S. 735 – 740
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Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastomaIn: Oncogene , Jg. 24 2005, Nr. 42, S. 6441 – 6449
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Loss of heterozygosity of 1p in uveal melanomas with monosomy 3In: International Journal of Cancer , Jg. 116 2005, Nr. 6, S. 909 – 913
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Author Correction : The landscape of genomic alterations across childhood cancersIn: Nature , Jg. 559 2018, Nr. 7714, S. E10
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OTHR-34. Identifying mechanisms of microglia-tumor cell interactions in retinoblastoma
20th International Symposium on Pediatric Neuro-Oncology (ISPNO 2022),In: Neuro-Oncology , Jg. 24 2022, Nr. Supplement_1: Abstracts from the 20th International Symposium on Pediatric Neuro-Oncology (ISPNO 2022), S. i154 – i154DOI (Open Access) -
cf-DNA and EVs as sources for biomarkers for early detection of second primary malignancies in patients with heritable retinoblastomaIn: European Journal of Human Genetics , Jg. 30 2022, Nr. Suppl. 1, S. 427
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The Impact of the Type of Constitutional RB1 Mutation on Incidence of Second Primary Malignancy Depends on Previous Radiotherapy
50th Congress of the International Society of Paediatric Oncology (SIOP), November 16–19, 2018, Kyoto, Japan,In: Pediatric Blood and Cancer , Jg. 65 2018, Nr. Suppl. 2, S. S47DOI (Open Access) -
First Prospective National Registry for Pediatric Eye Cancer in Germany and Austria
49th Congress of the International Society of Paediatric Oncology (SIOP), October 12–15, 2017, Washington, DC, USA,In: Pediatric Blood and Cancer , Jg. 64 2017, Nr. Suppl. 3, S. S276 – S277 -
Long-term overall survival for patients with retinoblastoma : A report from the German referral center from 1940-2008
Krebsmedizin heute: präventiv, personalisiert, präzise und partizipativ ; 32. Deutscher Krebskongress ; 24.-27. Februar 2016, Berlin,In: Oncology Research and Treatment , Jg. 39 2016, Nr. Suppl. 1, S. 29 – 30 -
Psychosocial Impact of prognostic Biomarker Study for Patients with Uveal MelanomaIn: Zeitschrift für Psychosomatische Medizin und Psychotherapie , Jg. 62 2016, Nr. 1, S. 37 – 38
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A new mandibulofacial dysostosis syndrome caused by a mutation of POLR1A
35th Annual David W Smith Workshop on Malformations and Morphogenesis, 25–30 July 2014, Madison, Wisconsin,In: American Journal of Medical Genetics, Part A , Jg. 167 2015, Nr. 8, S. 1727 – 1728 -
Second primary malignancies in children and adolescents after retinoblastoma treatment
47th Congress of the International Society of Paediatric Oncology (SIOP), October 8–11, 2015, Cape Town, South Africa,In: Pediatric Blood and Cancer , Jg. 62 2015, Nr. Suppl. 4, S. S232 -
Late effects in children and adolescents treated for retinoblastoma
45th Congress of the International society of Paediatric Oncology (SIOP), 25th - 28th September, 2013, Hong Kong, China,In: Pediatric Blood and Cancer , Jg. 60 2013, Nr. Suppl. 3, S. S12 -
Long-term follow-up of patients receiving chemoreduction for intraocular rettinoblatoma in the German RB Center (1995-2004)
43rd Congress of the International Society of Paediatric Oncology (SIOP) 2011 ; 28th–30th October, 2011, Auckland, New Zealand,In: Pediatric Blood and Cancer , Jg. 57 2011, Nr. 5, S. 785 -
The MIR-17-92 Gene Cluster is Amplified an overexpressed in Rettinoblastoma
41st Annual conference of International Society of Paediatric Oncology SIOP 2009, Sao Paulo, Brazil, October 5–9, 2009,In: Pediatric Blood and Cancer , Jg. 53 2009, Nr. 5, S. 735 -
Prognostic Testing in Uveal MelanomaIn: Cancer Genomics: Molecular Classification, Prognosis and Response Prediction / Pfeffer, Ulrich 2013, S. 79 – 96