1. A common ancestral DNMT3A-mutated preleukemic clone giving rise to AML and MDS in an adolescent girl. Issue 3 (4th March 2017) Authors: Göhring, Gudrun; Thomay, Kathrin; Schmidt, Gunnar; Ripperger, Tim; Xu, Michael; Wittner, Nicole; Chao, Mwe Mwe; Baumann, Irith; Niewisch, Marena; Reinhardt, Dirk; Klingebiel, Thomas; Thol, Felicitas; Schlegelberger, Brigitte; Niemeyer, Charlotte M. Journal: Leukemia & lymphoma Issue: Volume 58:Issue 3(2017) Page Start: 718 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. Issue 7 (6th May 2019) Authors: Golas, Monika M.; Auber, Bernd; Ripperger, Tim; Pabst, Brigitte; Schmidt, Gunnar; Morlot, Michel; Diebold, Uta; Steinemann, Doris; Schlegelberger, Brigitte; Morlot, Susanne Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A child with Li–Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. Issue 8 (18th March 2015) Authors: Schlegelberger, Brigitte; Kreipe, Hans; Lehmann, Ulrich; Steinemann, Doris; Ripperger, Tim; Göhring, Gudrun; Thomay, Kathrin; Rump, Andreas; Di Donato, Nataliya; Suttorp, Meinolf Journal: Pediatric blood & cancer Issue: Volume 62:Issue 8(2015:Aug.) Page Start: 1481 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Issue 5 (6th March 2019) Authors: Gallon, Richard; Mühlegger, Barbara; Wenzel, Sören‐Sebastian; Sheth, Harsh; Hayes, Christine; Aretz, Stefan; Dahan, Karin; Foulkes, William; Kratz, Christian P.; Ripperger, Tim; Azizi, Amedeo A.; Baris Feldman, Hagit; Chong, Anne‐Laure; Demirsoy, Ugur; Florkin, Benoît; Imschweiler, Thomas; Janusz... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers. Issue 4 (7th September 2019) Authors: González-Acosta, Maribel; Marín, Fátima; Puliafito, Benjamin; Bonifaci, Nuria; Fernández, Anna; Navarro, Matilde; Salvador, Hector; Balaguer, Francesc; Iglesias, Silvia; Velasco, Angela; Grau Garces, Elia; Moreno, Victor; Gonzalez-Granado, Luis Ignacio; Guerra-García, Pilar; Ayala, Rosa; Florkin,... Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Induced G1 phase arrest of fast-dividing cells improves the quality of genomic profiles generated by array-CGH. (October 2012) Authors: Manukjan, Georgi; Tauscher, Marcel; Ripperger, Tim; Schwarzer, Adrian; Schlegelberger, Brigitte; Steinemann, Doris Journal: Biotechniques Issue: Volume 53:Number 4(2012) Page Start: 245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer. (18th August 2022) Authors: Kratz, Christian P; Smirnov, Dmitrii; Autry, Robert; Jäger, Natalie; Waszak, Sebastian M; Großhennig, Anika; Berutti, Riccardo; Wendorff, Mareike; Hainaut, Pierre; Pfister, Stefan M; Prokisch, Holger; Ripperger, Tim; Malkin, David Journal: Journal of the National Cancer Institute Issue: Volume 114:Number 11(2022) Page Start: 1523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy. Issue 2 (10th November 2018) Authors: Suerink, Manon; Ripperger, Tim; Messiaen, Ludwine; Menko, Fred H; Bourdeaut, Franck; Colas, Chrystelle; Jongmans, Marjolijn; Goldberg, Yael; Nielsen, Maartje; Muleris, Martine; van Kouwen, Mariëtte; Slavc, Irene; Kratz, Christian; Vasen, Hans F; Brugiѐres, Laurence; Legius, Eric; Wimmer, Katharina Journal: Journal of medical genetics Issue: Volume 56:Issue 2(2019) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Issue 4 (7th February 2017) Authors: Ripperger, Tim; Bielack, Stefan S.; Borkhardt, Arndt; Brecht, Ines B.; Burkhardt, Birgit; Calaminus, Gabriele; Debatin, Klaus‐Michael; Deubzer, Hedwig; Dirksen, Uta; Eckert, Cornelia; Eggert, Angelika; Erlacher, Miriam; Fleischhack, Gudrun; Frühwald, Michael C.; Gnekow, Astrid; Goehring, Gudrun; ... Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair‐deficiency and Lynch syndrome. Issue 7 (30th March 2017) Authors: Maletzki, Claudia; Huehns, Maja; Bauer, Ingrid; Ripperger, Tim; Mork, Maureen M.; Vilar, Eduardo; Klöcking, Sabine; Zettl, Heike; Prall, Friedrich; Linnebacher, Michael Journal: Molecular carcinogenesis Issue: Volume 56:Issue 7(2017) Page Start: 1753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗