Publications by authors named "Michael Gombert"

32Publications

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

Infection as a cause of childhood leukemia: virus detection employing whole genome sequencing.

Haematologica 2017 05 2;102(5):e179-e183. Epub 2017 Feb 2.

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.2016.155382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685284PMC
May 2017

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

Characterization of an Additional Splice Acceptor Site Introduced into CYP4B1 in Hominoidae during Evolution.

PLoS One 2015 10;10(9):e0137110. Epub 2015 Sep 10.

Department of Otorhinolaryngology and Head/Neck Surgery, Heinrich Heine University, 40225 Düsseldorf, Germany; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, United States of America; Department of Pediatrics III, University Children's Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0137110PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565547PMC
May 2016

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

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.

Clin Immunol 2015 Jul 27;159(1):84-92. Epub 2015 Apr 27.

Pediatric Hematology/Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.clim.2015.04.007DOI Listing
July 2015

A new workflow for whole-genome sequencing of single human cells.

Hum Mutat 2014 Oct 18;35(10):1260-70. Epub 2014 Aug 18.

Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, University of Duesseldorf, Duesseldorf, Germany.

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http://dx.doi.org/10.1002/humu.22625DOI Listing
October 2014

Mycoplasma salivarium as a dominant coloniser of Fanconi anaemia associated oral carcinoma.

PLoS One 2014 18;9(3):e92297. Epub 2014 Mar 18.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0092297PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3958540PMC
November 2014

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