| Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay IG Bruno, R Karam, L Huang, A Bhardwaj, CH Lou, EY Shum, HW Song, ... Molecular cell 42 (4), 500-510, 2011 | 351 | 2011 |
| RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD L Huang, CH Lou, W Chan, EY Shum, A Shao, E Stone, R Karam, ... Molecular cell 43 (6), 950-961, 2011 | 235 | 2011 |
| Evidence for an association of human papillomavirus and breast carcinomas APS Damin, R Karam, CG Zettler, M Caleffi, COP Alexandre Breast cancer research and treatment 84, 131-137, 2004 | 222 | 2004 |
| Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer T Frebourg, C Oliveira, P Hochain, R Karam, S Manouvrier, C Graziadio, ... Journal of medical genetics 43 (2), 138-142, 2006 | 207 | 2006 |
| Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression C Oliveira, S Sousa, H Pinheiro, R Karam, R Bordeira–Carriço, J Senz, ... Gastroenterology 136 (7), 2137-2148, 2009 | 196 | 2009 |
| Posttranscriptional control of the stem cell and neurogenic programs by the nonsense-mediated RNA decay pathway CH Lou, A Shao, EY Shum, JL Espinoza, L Huang, R Karam, ... Cell reports 6 (4), 748-764, 2014 | 183 | 2014 |
| The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma C Liu, R Karam, YQ Zhou, F Su, Y Ji, G Li, GT Xu, LX Lu, CR Wang, ... Nature medicine 20 (6), 596-598, 2014 | 165 | 2014 |
| Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants K Lee, K Krempely, ME Roberts, MJ Anderson, F Carneiro, E Chao, ... Human mutation 39 (11), 1553-1568, 2018 | 162 | 2018 |
| Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel JL Mester, R Ghosh, T Pesaran, R Huether, R Karam, KS Hruska, ... Human mutation 39 (11), 1581-1592, 2018 | 152 | 2018 |
| Regulation of nonsense-mediated mRNA decay: implications for physiology and disease R Karam, J Wengrod, LB Gardner, MF Wilkinson Biochimica et Biophysica Acta (BBA)-Gene Regulatory Mechanisms 1829 (6-7 …, 2013 | 139 | 2013 |
| The unfolded protein response is shaped by the NMD pathway R Karam, CH Lou, H Kroeger, L Huang, JH Lin, MF Wilkinson EMBO reports 16 (5), 599-609, 2015 | 127 | 2015 |
| Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria RM Xicola, S Li, N Rodriguez, P Reinecke, R Karam, V Speare, MH Black, ... Journal of medical genetics 56 (12), 838-843, 2019 | 112 | 2019 |
| The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers R Karam, J Carvalho, I Bruno, C Graziadio, J Senz, D Huntsman, ... Oncogene 27 (30), 4255-4260, 2008 | 92 | 2008 |
| Targeting cellular heterogeneity with CXCR2 blockade for the treatment of therapy-resistant prostate cancer Y Li, Y He, W Butler, L Xu, Y Chang, K Lei, H Zhang, Y Zhou, AC Gao, ... Science translational medicine 11 (521), eaax0428, 2019 | 84 | 2019 |
| Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect G Corso, J Figueiredo, C La Vecchia, P Veronesi, G Pravettoni, D Macis, ... Journal of medical genetics 55 (7), 431-441, 2018 | 82 | 2018 |
| Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup LC Walker, M de la Hoya, GAR Wiggins, A Lindy, LM Vincent, MT Parsons, ... The American Journal of Human Genetics 110 (7), 1046-1067, 2023 | 67 | 2023 |
| Beyond DNA: an integrated and functional approach for classifying germline variants in breast cancer genes T Pesaran, R Karam, R Huether, S Li, S Farber-Katz, A Chamberlin, ... International Journal of Breast Cancer 2016 (1), 2469523, 2016 | 65 | 2016 |
| Assessment of diagnostic outcomes of RNA genetic testing for hereditary cancer R Karam, B Conner, H LaDuca, K McGoldrick, K Krempely, ... JAMA Network Open 2 (10), e1913900-e1913900, 2019 | 64 | 2019 |
| Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN S Fayer, C Horton, JN Dines, AF Rubin, ME Richardson, K McGoldrick, ... The American Journal of Human Genetics 108 (12), 2248-2258, 2021 | 62 | 2021 |
| Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes T Landrith, B Li, AA Cass, BR Conner, H LaDuca, DB McKenna, ... NPJ precision oncology 4 (1), 4, 2020 | 57 | 2020 |
