| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, ... Human mutation 39 (5), 593-620, 2018 | 334 | 2018 |
| 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 | 210 | 2022 |
| GRIN2A-related disorders: genotype and functional consequence predict phenotype V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ... Brain 142 (1), 80-92, 2019 | 210 | 2019 |
| Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ... Neurology 86 (23), 2171-2178, 2016 | 203 | 2016 |
| 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 | 185 | 2018 |
| Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants DR Barnes, MA Rookus, L McGuffog, G Leslie, TM Mooij, J Dennis, ... Genetics in Medicine 22 (10), 1653-1666, 2020 | 117 | 2020 |
| Sinonasal persistence of Pseudomonas aeruginosa after lung transplantation JG Mainz, J Hentschel, C Schien, N Cramer, W Pfister, JF Beck, ... Journal of Cystic Fibrosis 11 (2), 158-161, 2012 | 80 | 2012 |
| Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease I Ottlewski, J Münch, T Wagner, R Schönauer, A Bachmann, A Weimann, ... Kidney international 96 (1), 222-230, 2019 | 73 | 2019 |
| Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function N Terliesner, M Vogel, A Steighardt, R Gausche, C Henn, J Hentschel, ... Journal of Pediatric Endocrinology and Metabolism 30 (8), 815-821, 2017 | 71 | 2017 |
| Intestinal current measurements detect activation of mutant CFTR in patients with cystic fibrosis with the G551D mutation treated with ivacaftor SY Graeber, MJ Hug, O Sommerburg, S Hirtz, J Hentschel, A Heinzmann, ... American journal of respiratory and critical care medicine 192 (10), 1252-1255, 2015 | 69 | 2015 |
| Influences of nasal lavage collection-, processing-and storage methods on inflammatory markers—evaluation of a method for non-invasive sampling of epithelial lining fluid in … J Hentschel, U Müller, F Doht, N Fischer, K Böer, J Sonnemann, C Hipler, ... Journal of immunological methods 404, 41-51, 2014 | 61 | 2014 |
| A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia KL Helbig, UBS Hedrich, DN Shinde, I Krey, AC Teichmann, J Hentschel, ... Annals of neurology 80 (4), 2016 | 57 | 2016 |
| Rad54B targeting to DNA double-strand break repair sites requires complex formation with S100A11 U Murzik, P Hemmerich, S Weidtkamp-Peters, T Ulbricht, W Bussen, ... Molecular biology of the cell 19 (7), 2926-2935, 2008 | 53 | 2008 |
| Parental mosaicism in epilepsies due to alleged de novo variants RS Møller, N Liebmann, LHG Larsen, M Stiller, J Hentschel, N Kako, ... Epilepsia 60 (6), e63-e66, 2019 | 51 | 2019 |
| Sino nasal inhalation of isotonic versus hypertonic saline (6.0%) in CF patients with chronic rhinosinusitis—results of a multicenter, prospective, randomized, double-blind … JG Mainz, U Schumacher, K Schädlich, J Hentschel, C Koitschev, ... Journal of Cystic Fibrosis 15 (6), e57-e66, 2016 | 50 | 2016 |
| The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals P Zacher, T Mayer, F Brandhoff, T Bartolomaeus, D Le Duc, M Finzel, ... Genetics in Medicine 23 (8), 1492-1497, 2021 | 43 | 2021 |
| Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers J Borde, C Ernst, B Wappenschmidt, D Niederacher, K Weber-Lassalle, ... JNCI: Journal of the National Cancer Institute 113 (7), 893-899, 2021 | 38 | 2021 |
| Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores DR Barnes, V Silvestri, G Leslie, L McGuffog, J Dennis, X Yang, J Adlard, ... JNCI: Journal of the National Cancer Institute 114 (1), 109-122, 2022 | 35 | 2022 |
| Non‐invasive assessment of upper and lower airway infection and inflammation in CF patients N Fischer, J Hentschel, UR Markert, PM Keller, MW Pletz, JG Mainz Pediatric Pulmonology 49 (11), 1065-1075, 2014 | 35 | 2014 |
| BCR-ABL-and Ras-independent activation of Raf as a novel mechanism of Imatinib resistance in CML J Hentschel, I Rubio, M Eberhart, C Hipler, J Schiefner, K Schubert, ... International journal of oncology 39 (3), 585-591, 2011 | 35 | 2011 |
