Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

75 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS; Clinical Genome Resource Sequence Variant Interpretation Working Group. Brnich SE, et al. Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2. Genome Med. 2019. PMID: 31892348 Free PMC article.
ClinGen and Genetic Testing.
Karam R, Pesaran T, Chao E. Karam R, et al. Among authors: pesaran t. N Engl J Med. 2015 Oct;373(14):1376-7. doi: 10.1056/NEJMc1508700. N Engl J Med. 2015. PMID: 26422737 No abstract available.
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 classification algorithms.
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. de la Hoya M, et al. Among authors: pesaran t. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. doi: 10.1093/hmg/ddw094. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008870 Free PMC article.
Efforts Toward Consensus Variant Interpretation by Commercial Laboratories.
Dolinsky JS, Hruska KS, Pesaran T, Richardson ME, Klein RT, Solomon BD, Gau CL. Dolinsky JS, et al. Among authors: pesaran t. J Clin Oncol. 2017 Apr 10;35(11):1261-1262. doi: 10.1200/JCO.2016.71.2505. Epub 2017 Jan 30. J Clin Oncol. 2017. PMID: 28135139 No abstract available.
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS. Couch FJ, et al. Among authors: pesaran t. JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424. JAMA Oncol. 2017. PMID: 28418444 Free PMC article.
Somatic TP53 variants frequently confound germ-line testing results.
Weitzel JN, Chao EC, Nehoray B, Van Tongeren LR, LaDuca H, Blazer KR, Slavin T, Facmg DABMD, Pesaran T, Rybak C, Solomon I, Niell-Swiller M, Dolinsky JS, Castillo D, Elliott A, Gau CL, Speare V, Jasperson K. Weitzel JN, et al. Among authors: pesaran t. Genet Med. 2018 Aug;20(8):809-816. doi: 10.1038/gim.2017.196. Epub 2017 Nov 30. Genet Med. 2018. PMID: 29189820 Free PMC article.
75 results