| Initial sequencing and analysis of the human genome US DOE Joint Genome Institute: Hawkins Trevor 4 Branscomb Elbert 4 Predki ... nature 409 (6822), 860-921, 2001 | 30198 | 2001 |
| The DNA sequence of human chromosome 21 M Hattori, A Fujiyama, TD Taylor, H Watanabe, T Yada, HS Park, ... Nature 405 (6784), 311-319, 2000 | 1478 | 2000 |
| Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study A Rauch, D Wieczorek, E Graf, T Wieland, S Endele, T Schwarzmayr, ... The Lancet 380 (9854), 1674-1682, 2012 | 1215 | 2012 |
| Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome E Rao, B Weiss, M Fukami, A Rump, B Niesler, A Mertz, K Muroya, ... Nature genetics 16 (1), 54-63, 1997 | 1171 | 1997 |
| Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31 P Mburu, M Mustapha, A Varela, D Weil, A El-Amraoui, RH Holme, ... Nature genetics 34 (4), 421-428, 2003 | 371 | 2003 |
| Nucleotide sequence of a 24,206-base-pair DNA fragment carrying the entire nitrogen fixation gene cluster of Klebsiella pneumoniae W Arnold, A Rump, W Klipp, UB Priefer, A Pühler Journal of molecular biology 203 (3), 715-738, 1988 | 357 | 1988 |
| Erratum: Initial sequencing and analysis of the human genome: international human genome sequencing consortium (Nature (2001) 409 (860-921)) ES Lander, LM Linton, B Birren, C Nusbaum, MC Zody, J Baldwin, ... Nature 412 (6846), 565-566, 2001 | 274 | 2001 |
| Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 268 | 2015 |
| Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary … J Hauke, J Horvath, E Groß, A Gehrig, E Honisch, K Hackmann, ... Cancer medicine 7 (4), 1349-1358, 2018 | 168 | 2018 |
| Identification of a set of seven genes for the monitoring of minimal residual disease in pediatric acute myeloid leukemia D Steinbach, A Schramm, A Eggert, M Onda, K Dawczynski, A Rump, ... Clinical cancer research 12 (8), 2434-2441, 2006 | 166 | 2006 |
| Gene structure and regulation of the murine epithelial calcium channels ECaC1 and 2 K Weber, RG Erben, A Rump, J Adamski Biochemical and biophysical research communications 289 (5), 1287-1294, 2001 | 159 | 2001 |
| Comprehensive genomic and transcriptomic analysis for guiding therapeutic decisions in patients with rare cancers P Horak, C Heining, S Kreutzfeldt, B Hutter, A Mock, J Hüllein, M Fröhlich, ... Cancer discovery 11 (11), 2780-2795, 2021 | 149 | 2021 |
| Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases A Verloes, N Di Donato, J Masliah-Planchon, M Jongmans, ... European Journal of Human Genetics 23 (3), 292-301, 2015 | 140 | 2015 |
| Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants S Li, V Silvestri, G Leslie, TR Rebbeck, SL Neuhausen, JL Hopper, ... Journal of Clinical Oncology 40 (14), 1529-1541, 2022 | 133 | 2022 |
| A misplaced lncRNA causes brachydactyly in humans PG Maass, A Rump, H Schulz, S Stricker, L Schulze, K Platzer, A Aydin, ... The Journal of clinical investigation 122 (11), 3990-4002, 2012 | 129 | 2012 |
| Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ... Human mutation 40 (9), 1557-1578, 2019 | 119 | 2019 |
| Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly N Di Donato, AE Timms, KA Aldinger, GM Mirzaa, JT Bennett, S Collins, ... Genetics in Medicine 20 (11), 1354-1364, 2018 | 116 | 2018 |
| Expression levels of the putative zinc transporter LIV‐1 are associated with a better outcome of breast cancer patients G Kasper, AA Weiser, A Rump, K Sparbier, E Dahl, A Hartmann, P Wild, ... International journal of cancer 117 (6), 961-973, 2005 | 115 | 2005 |
| Chromosome 21 mapping and sequencing consortium M Hattori, A Fujiyama, TD Taylor, H Watanabe, T Yada, HS Park, ... The DNA sequence of human chromosome 21, 311-319, 2000 | 115 | 2000 |
| New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy A Pinggera, L Mackenroth, A Rump, J Schallner, F Beleggia, B Wollnik, ... Human molecular genetics 26 (15), 2923-2932, 2017 | 107 | 2017 |
