| 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 | 293 | 2018 |
| Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia S Topka, J Vijai, MF Walsh, L Jacobs, A Maria, D Villano, P Gaddam, ... PLoS genetics 11 (6), e1005262, 2015 | 167 | 2015 |
| Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia PJ Law, SI Berndt, HE Speedy, NJ Camp, GP Sava, CF Skibola, ... Nature communications 8 (1), 14175, 2017 | 99 | 2017 |
| Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors EM Fiala, G Jayakumaran, A Mauguen, JA Kennedy, N Bouvier, Y Kemel, ... Nature cancer 2 (3), 357-365, 2021 | 93 | 2021 |
| A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer J Vijai, S Topka, D Villano, V Ravichandran, KN Maxwell, A Maria, ... Cancer discovery 6 (11), 1267-1275, 2016 | 49 | 2016 |
| Germline SDHA mutations in children and adults with cancer MD Gault, D Mandelker, D DeLair, CR Stewart, Y Kemel, MR Sheehan, ... Molecular Case Studies 4 (4), a002584, 2018 | 35 | 2018 |
| Basic molecular fingerprinting of immature cerebellar cortical inhibitory interneurons and their precursors A Glassmann, S Topka, L Wang-Eckardt, S Anders, G Weisheit, E Endl, ... Neuroscience 159 (1), 69-82, 2009 | 18 | 2009 |
| Germline pathogenic variants impact clinicopathology of advanced lung cancer S Mukherjee, C Bandlamudi, MD Hellmann, Y Kemel, E Drill, H Rizvi, ... Cancer Epidemiology, Biomarkers & Prevention 31 (7), 1450-1459, 2022 | 14 | 2022 |
| Targeting germline-and tumor-associated nucleotide excision repair defects in cancer S Topka, Z Steinsnyder, V Ravichandran, K Tkachuk, Y Kemel, ... Clinical Cancer Research 27 (7), 1997-2010, 2021 | 14 | 2021 |
| The transcription factor Cux1 in cerebellar granule cell development and medulloblastoma pathogenesis S Topka, A Glassmann, G Weisheit, U Schüller, K Schilling The Cerebellum 13, 698-712, 2014 | 9 | 2014 |
| NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects S Belhadj, A Khurram, C Bandlamudi, G Palou-Márquez, V Ravichandran, ... Clinical Cancer Research 29 (2), 422-431, 2023 | 8 | 2023 |
| Preclinical evaluation of enhanced irofulven antitumor activity in an ERCC3 mutant background by in vitro and in vivo tumor models S Topka, S Khalil, ED Stanchina, J Vijai, K Offit Cancer Research 78 (13_Supplement), 3258-3258, 2018 | 4 | 2018 |
| Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma A Prosz, H Duan, V Tisza, P Sahgal, S Topka, GT Klus, J Börcsök, ... Scientific Reports 13 (1), 20567, 2023 | 3 | 2023 |
| FH (rs367543046, chr1:241661227 A/ATTT) heterozygous carrier status does not confer risk to hereditary leiomyomatosis and renal cell cancer (HLRCC) and … MF Walsh, D Mandelker, J Vijai, D Musheyev, J Kennedy, Z Stadler, ... Cancer Research 77 (13_Supplement), 4280-4280, 2017 | 3 | 2017 |
| Diagnosis & treatment of ercc3-mutant cancer V Joseph, K Offit, S Topka US Patent App. 16/493,214, 2021 | | 2021 |
| Abstract LB-A07: Targeting nucleotide excision repair defects in cancer S Topka, Z Steinsnyder, K Tkachuk, V Ravichandran, MW Madsen, ... Molecular Cancer Therapeutics 18 (12_Supplement), LB-A07-LB-A07, 2019 | | 2019 |
| Germline mutations in NBN conferring DNA damage response defects are found in patients with multiple cancer types S Topka, MF Walsh, A Maria, A Lincoln, D Mandelker, L Zhang, M Ladanyi, ... Cancer Research 77 (13_Supplement), 1281-1281, 2017 | | 2017 |
| Ngago: no evidence of targeted endonuclease activity S Topka, S Kazzaz, K Offit, V Joseph Cancer Research 77 (13_Supplement), 5367-5367, 2017 | | 2017 |
| ERCC3 R109X is a moderate risk breast cancer risk variant in Ashkenazi Jews J Vijai, S Topka, K Maxwell, V Ravichandran, T Thomas, D Villano, ... Cancer Research 76 (14_Supplement), 796-796, 2016 | | 2016 |
| Germline mutations in ETV6 confer risk of thrombocytopenia and acute lymphocytic leukemia V Joseph, MF Walsh, S Topka, G Wu, RB McGee, E Quinn, H Inaba, ... Cancer Research 75 (15_Supplement), 2033-2033, 2015 | | 2015 |
