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European Journal of Human Genetics : EJHG|June 23, 2016
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1Julia Vogt, Annekatrin Wernstedt, Tim Ripperger, et al.
Pediatric Blood & Cancer|March 2, 2023
Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based surveyJelena Lazic, Oskar A Haas, Ugur Özbek, et al.
Stem Cell Research|April 22, 2016
GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemiaGeorgi Manukjan, Tim Ripperger, Letizia Venturini, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?Astrid Behnert, Bernd Auber, Doris Steinemann, et al.
Experimental Hematology|June 15, 2015
Expression of the ETS transcription factor GABPα is positively correlated to the BCR-ABL1/ABL1 ratio in CML patients and affects imatinib sensitivity in vitroGeorgi Manukjan, Tim Ripperger, Laura Santer, et al.
European Journal of Medical Genetics|March 5, 2018
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literatureFrederik Heldt, Hannah Wallaschek, Tim Ripperger, et al.
Haematologica|December 18, 2009
Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutationTim Ripperger, Carmela Beger, Nils Rahner, et al.
American Journal of Medical Genetics. Part A|May 8, 2019
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1AMonika M Golas, Bernd Auber, Tim Ripperger, et al.
Pediatric Blood & Cancer|March 20, 2015
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignanciesBrigitte Schlegelberger, Hans Kreipe, Ulrich Lehmann, et al.
Molecular Carcinogenesis|February 21, 2017
Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndromeClaudia Maletzki, Maja Huehns, Ingrid Bauer, et al.
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