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Tina Pesaran
Tina Pesaran
Ambry Genetic
在 ambrygen.com 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
6302017
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
6162018
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
3612014
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
3072018
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
2222017
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
1842020
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
1692022
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
1582018
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
1512018
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
1192021
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
1122018
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
952016
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
802019
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
782020
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
652016
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
642019
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
592018
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
572020
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
552023
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
552021
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