Publications by authors named "Sebastian Ginzel"

20Publications

Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.

Fam Cancer 2019 07;18(3):353-358

Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany.

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http://link.springer.com/10.1007/s10689-019-00121-z
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http://dx.doi.org/10.1007/s10689-019-00121-zDOI Listing
July 2019

Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.

Eur J Hum Genet 2018 03 4;26(3):440-444. Epub 2018 Jan 4.

Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.

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http://dx.doi.org/10.1038/s41431-017-0071-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839041PMC
March 2018

Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations.

Eur J Hum Genet 2018 01 11;26(1):137-142. Epub 2017 Dec 11.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.

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http://dx.doi.org/10.1038/s41431-017-0048-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839031PMC
January 2018

Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency.

Haematologica 2017 02 15;102(2):e69-e72. Epub 2016 Dec 15.

Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Germany.

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http://dx.doi.org/10.3324/haematol.2016.155838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286958PMC
February 2017

Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24.

J Clin Immunol 2016 10 29;36(7):684-92. Epub 2016 Jul 29.

Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich Heine University, Moorenstrasse 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s10875-016-0317-yDOI Listing
October 2016

A novel homozygous mutation in UNC13D presenting as Epstein-Barr-virus-associated lymphoproliferative disease at 9 years of age.

Leuk Lymphoma 2016 12 28;57(12):2949-2951. Epub 2016 Apr 28.

a Pediatric Oncology, Hematology and Clinical Immunology , Heinrich Heine University Medical Center , Düsseldorf , Germany.

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http://dx.doi.org/10.1080/10428194.2016.1177724DOI Listing
December 2016

Identification of TEL-AML1 (ETV6-RUNX1) associated DNA and its impact on mRNA and protein output using ChIP, mRNA expression arrays and SILAC.

Genom Data 2014 Dec 27;2:85-8. Epub 2014 May 27.

Heinrich-Heine-University Düsseldorf, Medical Faculty, Clinic for Pediatric Oncology, Hematology and Clinical Immunology, Duesseldorf, Germany.

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http://dx.doi.org/10.1016/j.gdata.2014.05.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536161PMC
December 2014

Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options.

Nat Genet 2015 Sep 27;47(9):1020-1029. Epub 2015 Jul 27.

Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1038/ng.3362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603357PMC
September 2015

Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients.

Leuk Res 2015 Sep 14;39(9):990-1001. Epub 2015 Jun 14.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.leukres.2015.06.005DOI Listing
September 2015

Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease.

Haematologica 2015 Sep 25;100(9):1189-98. Epub 2015 Jun 25.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany

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http://dx.doi.org/10.3324/haematol.2014.114967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800681PMC
September 2015

Next-generation-sequencing-based risk stratification and identification of new genes involved in structural and sequence variations in near haploid lymphoblastic leukemia.

Genes Chromosomes Cancer 2013 Jun 18;52(6):564-79. Epub 2013 Mar 18.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.

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http://dx.doi.org/10.1002/gcc.22054DOI Listing
June 2013