Stephen E Lincoln
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Explore the profile of Stephen E Lincoln including associated specialties, affiliations and a list of published articles.
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26
Citations
1827
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Recent Articles
1.
Crooks K, Farwell Hagman K, Mandelker D, Santani A, Schmidt R, Temple-Smolkin R, et al.
J Mol Diagn
. 2023 May;
25(7):411-427.
PMID: 37207865
Clinical laboratory implementation of next-generation sequencing (NGS)-based constitutional genetic testing has been rapid and widespread. In the absence of widely adopted comprehensive guidance, there remains substantial variability among laboratories in...
2.
Espinel W, Champine M, Hampel H, Jeter J, Sweet K, Pilarski R, et al.
Cancers (Basel)
. 2022 May;
14(10).
PMID: 35626031
Consensus guidelines for hereditary breast and ovarian cancer include management recommendations for pathogenic/likely pathogenic (P/LP) variants in , , and other DNA damage repair (DDR) genes beyond or . We...
3.
Wagner J, Olson N, Harris L, McDaniel J, Cheng H, Fungtammasan A, et al.
Nat Biotechnol
. 2022 Feb;
40(5):672-680.
PMID: 35132260
The repetitive nature and complexity of some medically relevant genes poses a challenge for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has provided variant...
4.
Lincoln S, Hambuch T, Zook J, Bristow S, Hatchell K, Truty R, et al.
Genet Med
. 2021 May;
23(9):1673-1680.
PMID: 34007000
Purpose: To evaluate the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic tests. Such variants include large indels, small copy-number variants...
5.
Lincoln S, Nussbaum R, Kurian A, Nielsen S, Das K, Michalski S, et al.
JAMA Netw Open
. 2020 Oct;
3(10):e2019452.
PMID: 33026450
Importance: Both germline genetic testing and tumor DNA sequencing are increasingly used in cancer care. The indications for testing and utility of these 2 tests differ, and guidelines recommend that...
6.
Lincoln S, Truty R, Lin C, Zook J, Paul J, Ramey V, et al.
J Mol Diagn
. 2019 Jan;
21(2):318-329.
PMID: 30610921
Orthogonal confirmation of next-generation sequencing (NGS)-detected germline variants is standard practice, although published studies have suggested that confirmation of the highest-quality calls may not always be necessary. The key question...
7.
Yang S, Axilbund J, OLeary E, Michalski S, Evans R, Lincoln S, et al.
Ann Surg Oncol
. 2018 Jul;
25(10):2925-2931.
PMID: 29998407
Background: An estimated 5-10% of breast and ovarian cancers are due to hereditary causes such as hereditary breast and ovarian cancer (HBOC) syndrome. Medicare, the third-party payer that covers 44...
8.
Truty R, Paul J, Kennemer M, Lincoln S, Olivares E, Nussbaum R, et al.
Genet Med
. 2018 Jun;
21(1):114-123.
PMID: 29895855
Purpose: We investigated the frequencies and characteristics of intragenic copy-number variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders. Methods: Subsets of 1507 genes were tested...
9.
Dudley B, Karloski E, Monzon F, Singhi A, Lincoln S, Bahary N, et al.
Cancer
. 2018 Jan;
124(8):1691-1700.
PMID: 29360161
Background: Approximately 10% of pancreatic adenocarcinoma (PC) cases are attributed to hereditary causes. Individuals with PC and a personal history of another cancer associated with hereditary breast and ovarian cancer...
10.
Jun G, Manning A, Almeida M, Zawistowski M, Wood A, Teslovich T, et al.
Proc Natl Acad Sci U S A
. 2017 Dec;
115(2):379-384.
PMID: 29279374
A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution...