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| HGVS recommendations for the description of sequence variants: 2016 update JT Den Dunnen, R Dalgleish, DR Maglott, RK Hart, MS Greenblatt, ... Human mutation 37 (6), 564-569, 2016 | 1473 | 2016 |
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| Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results SE Plon, DM Eccles, D Easton, WD Foulkes, M Genuardi, MS Greenblatt, ... Human mutation 29 (11), 1282-1291, 2008 | 1006 | 2008 |
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| Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer P Kaurah, A MacMillan, N Boyd, J Senz, A De Luca, N Chun, G Suriano, ... Jama 297 (21), 2360-2372, 2007 | 524 | 2007 |
| Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database M Dominguez-Valentin, JR Sampson, TT Seppälä, SW Ten Broeke, ... Genetics in Medicine 22 (1), 15-25, 2020 | 498 | 2020 |
| Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database BA Thompson, AB Spurdle, JP Plazzer, MS Greenblatt, K Akagi, ... Nature genetics 46 (2), 107-115, 2014 | 488 | 2014 |
| Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework SV Tavtigian, MS Greenblatt, SM Harrison, RL Nussbaum, SA Prabhu, ... Genetics in medicine 20 (9), 1054-1060, 2018 | 410 | 2018 |
| Database of p53 gene somatic mutations in human tumors and cell lines: updated compilation and future prospects P Hainaut, T Soussi, B Shomer, M Hollstein, M Greenblatt, E Hovig, ... Nucleic acids research 25 (1), 151-157, 1997 | 399 | 1997 |
| Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting, MS Greenblatt, ... Genome medicine 12, 1-12, 2020 | 379 | 2020 |
| TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution MS Greenblatt, PO Chappuis, JP Bond, N Hamel, WD Foulkes Cancer research 61 (10), 4092-4097, 2001 | 274 | 2001 |
| In silico analysis of missense substitutions using sequence‐alignment based methods SV Tavtigian, MS Greenblatt, F Lesueur, GB Byrnes, ... Human mutation 29 (11), 1327-1336, 2008 | 232 | 2008 |
| Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features DR Walker, JP Bond, RE Tarone, CC Harris, W Makalowski, MS Boguski, ... Oncogene 18 (1), 211-218, 1999 | 230 | 1999 |
| Genetic evidence and integration of various data sources for classifying uncertain variants into a single model DE Goldgar, DF Easton, GB Byrnes, AB Spurdle, ES Iversen, ... Human mutation 29 (11), 1265-1272, 2008 | 226 | 2008 |
| Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1 TE Raevaara, MK Korhonen, H Lohi, H Hampel, E Lynch, KE Lönnqvist, ... Gastroenterology 129 (2), 537-549, 2005 | 224 | 2005 |
| Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR) PA Chan, S Duraisamy, PJ Miller, JA Newell, C McBride, JP Bond, ... Human mutation 28 (7), 683-693, 2007 | 157 | 2007 |
| Deletions and Insertions in the p53 Tumor Suppressor Gene in Human Cancers: Confirmation of the DNA Polymerase Slippage/Misalignment Model MS Greenblatt, AP Grollman, CC Harris Cancer Research 56 (9), 2130-2136, 1996 | 157 | 1996 |
| Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ... The American Journal of Human Genetics 109 (12), 2163-2177, 2022 | 143 | 2022 |
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