Associations between cancer predisposition testing panel genes and breast cancer FJ Couch, H Shimelis, C Hu, SN Hart, EC Polley, J Na, E Hallberg, ... JAMA oncology 3 (9), 1190-1196, 2017 | 630 | 2017 |
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion AN Abou Tayoun, T Pesaran, MT DiStefano, A Oza, HL Rehm, ... Human mutation 39 (11), 1517-1524, 2018 | 616 | 2018 |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients H LaDuca, AJ Stuenkel, JS Dolinsky, S Keiles, S Tandy, T Pesaran, ... Genetics in medicine 16 (11), 830-837, 2014 | 361 | 2014 |
Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing H Shimelis, H LaDuca, C Hu, SN Hart, J Na, A Thomas, M Akinhanmi, ... JNCI: Journal of the National Cancer Institute 110 (8), 855-862, 2018 | 307 | 2018 |
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar SM Harrison, JS Dolinsky, AE Knight Johnson, T Pesaran, DR Azzariti, ... Genetics in Medicine 19 (10), 1096-1104, 2017 | 222 | 2017 |
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high … H LaDuca, EC Polley, A Yussuf, L Hoang, S Gutierrez, SN Hart, S Yadav, ... Genetics in Medicine 22 (2), 407-415, 2020 | 184 | 2020 |
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 | 169 | 2022 |
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 | 158 | 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 | 151 | 2018 |
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants C Fortuno, K Lee, M Olivier, T Pesaran, PL Mai, KC de Andrade, ... Human mutation 42 (3), 223-236, 2021 | 119 | 2021 |
Somatic TP53 variants frequently confound germ-line testing results JN Weitzel, EC Chao, B Nehoray, LR Van Tongeren, H LaDuca, ... Genetics in medicine 20 (8), 809-816, 2018 | 112 | 2018 |
Combined genetic and splicing analysis of BRCA1 c.[594-2A> C; 641A> G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant … M de La Hoya, O Soukarieh, I López-Perolio, A Vega, LC Walker, ... Human molecular genetics 25 (11), 2256-2268, 2016 | 95 | 2016 |
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification Y Tian, T Pesaran, A Chamberlin, RB Fenwick, S Li, CL Gau, EC Chao, ... Scientific Reports 9 (1), 12752, 2019 | 80 | 2019 |
The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort C Hu, EC Polley, S Yadav, J Lilyquist, H Shimelis, J Na, SN Hart, ... JNCI: Journal of the National Cancer Institute 112 (12), 1231-1241, 2020 | 78 | 2020 |
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 |
Multigene hereditary cancer panels reveal high-risk pancreatic cancer susceptibility genes C Hu, H LaDuca, H Shimelis, EC Polley, J Lilyquist, SN Hart, J Na, ... JCO precision oncology 2, 1-28, 2018 | 59 | 2018 |
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 |
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 | 55 | 2023 |
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 | 55 | 2021 |