Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations K Tatton-Brown, J Douglas, K Coleman, G Baujat, TRP Cole, S Das, ... The American Journal of Human Genetics 77 (2), 193-204, 2005 | 358 | 2005 |
Tailoring iron chelation by iron intake and serum ferritin: the prospective EPIC study of deferasirox in 1744 patients with transfusion-dependent anemias MD Cappellini, J Porter, A El-Beshlawy, CK Li, JF Seymour, M Elalfy, ... haematologica 95 (4), 557, 2010 | 342 | 2010 |
Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts O Blau, CD Baldus, WK Hofmann, G Thiel, F Nolte, T Burmeister, ... Blood, The Journal of the American Society of Hematology 118 (20), 5583-5592, 2011 | 214 | 2011 |
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival V Hucthagowder, E Morava, U Kornak, DJ Lefeber, B Fischer, ... Human molecular genetics 18 (12), 2149-2165, 2009 | 159 | 2009 |
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes S Türkmen, G Gillessen-Kaesbach, P Meinecke, B Albrecht, LM Neumann, ... European Journal of Human Genetics 11 (11), 858-865, 2003 | 156 | 2003 |
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait S Türkmen, G Guo, M Garshasbi, K Hoffmann, AJ Alshalah, C Mischung, ... PLoS genetics 5 (5), e1000487, 2009 | 151 | 2009 |
Circulating proteasome levels are an independent prognostic factor for survival in multiple myeloma C Jakob, K Egerer, P Liebisch, S Türkmen, I Zavrski, U Kuckelkorn, ... Blood 109 (5), 2100-2105, 2007 | 150 | 2007 |
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies O Demirhan, S Türkmen, GC Schwabe, S Soyupak, E Akgül, D Taþtemir, ... Journal of Medical Genetics 42 (4), 314-317, 2005 | 113 | 2005 |
Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ... The American Journal of Human Genetics 106 (6), 872-884, 2020 | 104 | 2020 |
Homeobox genes d11–d13 and a13 control mouse autopod cortical bone and joint formation P Villavicencio-Lorini, P Kuss, J Friedrich, J Haupt, M Farooq, S Türkmen, ... The Journal of clinical investigation 120 (6), 1994-2004, 2010 | 100 | 2010 |
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies S Katzke, P Booms, F Tiecke, M Palz, A Pletschacher, S Türkmen, ... Human mutation 20 (3), 197-208, 2002 | 92 | 2002 |
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1 GC Schwabe, S Türkmen, G Leschik, S Palanduz, B Stöver, TO Goecke, ... American journal of medical genetics Part A 124 (4), 356-363, 2004 | 77 | 2004 |
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene S Türkmen, K Hoffmann, O Demirhan, D Aruoba, N Humphrey, S Mundlos European journal of human genetics 16 (9), 1070-1074, 2008 | 65 | 2008 |
Acute myeloid leukemia in the elderly is characterized by a distinct genetic and epigenetic landscape P Silva, M Neumann, MP Schroeder, S Vosberg, C Schlee, K Isaakidis, ... Leukemia 31 (7), 1640-1644, 2017 | 64 | 2017 |
Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia A Bokemeyer, C Eckert, F Meyr, G Koerner, A von Stackelberg, R Ullmann, ... haematologica 99 (4), 706, 2014 | 58 | 2014 |
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p S Türkmen, O Demirhan, K Hoffmann, A Diers, C Zimmer, K Sperling, ... Journal of medical genetics 43 (5), 461-464, 2006 | 58 | 2006 |
Impact of additional chromosomal aberrations and BCR-ABL kinase domain mutations on the response to nilotinib in Philadelphia chromosome-positive chronic myeloid leukemia TD Kim, S Türkmen, M Schwarz, G Koca, H Nogai, C Bommer, B Dörken, ... Haematologica 95 (4), 582, 2010 | 53 | 2010 |
Multilayered omics-based analysis of a head and neck cancer model of cisplatin resistance reveals intratumoral heterogeneity and treatment-induced clonal selection F Niehr, T Eder, T Pilz, R Konschak, D Treue, F Klauschen, M Bockmayr, ... Clinical Cancer Research 24 (1), 158-168, 2018 | 51 | 2018 |
Synergistic action of the novel HSP90 inhibitor NVP‐AUY922 with histone deacetylase inhibitors, melphalan, or doxorubicin in multiple myeloma M Kaiser, B Lamottke, M Mieth, MR Jensen, C Quadt, ... European journal of haematology 84 (4), 337-344, 2010 | 49 | 2010 |
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome F Tufan, K Cefle, S Türkmen, A Türkmen, U Zorba, M Dursun, S Oztürk, ... American Journal of Medical Genetics Part A 136 (2), 185-189, 2005 | 42 | 2005 |