Sara L Bristow
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Explore the profile of Sara L Bristow including associated specialties, affiliations and a list of published articles.
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31
Citations
252
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Recent Articles
1.
Sha Y, Ortiz J, Bristow S, Loranger K, Meng L, Zhao X, et al.
Genet Med Open
. 2025 Feb;
3:101914.
PMID: 39902189
Purpose: Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional...
2.
Sorscher S, Lopiccolo J, Heald B, Chen E, Bristow S, Michalski S, et al.
JCO Precis Oncol
. 2023 Nov;
7:e2300190.
PMID: 37992258
Purpose: Germline genetic testing (GGT) is now recommended for all patients diagnosed with ovarian or pancreatic cancer and for a large proportion of patients based solely on a diagnosis of...
3.
Ashcraft K, Grande K, Bristow S, Moyer N, Schmidlen T, Moretz C, et al.
J Pers Med
. 2022 Dec;
12(12).
PMID: 36556194
Utilizing pharmacogenomic (PGx) testing and integrating evidence-based guidance in drug therapy enables an improved treatment response and decreases the occurrence of adverse drug events. We conducted a retrospective analysis to...
4.
McKnight D, Morales A, Hatchell K, Bristow S, Bonkowsky J, Perry M, et al.
JAMA Neurol
. 2022 Oct;
79(12):1267-1276.
PMID: 36315135
Importance: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. Objective: To evaluate...
5.
Lieberman K, Chang A, Block G, Robinson K, Bristow S, Morales A, et al.
Kidney360
. 2022 Sep;
3(5):900-909.
PMID: 36128480
Background: Despite increasing recognition that CKD may have underlyi ng genetic causes, genetic testing remains limited. This study evaluated the diagnostic yield and phenotypic spectrum of CKD in individuals tested...
6.
Esplin E, Nielsen S, Bristow S, Garber J, Hampel H, Rana H, et al.
JCO Precis Oncol
. 2022 Sep;
6:e2100516.
PMID: 36108258
No abstract available.
7.
Ossa Gomez C, Achatz M, Hurtado M, Sanabria-Salas M, Sullcahuaman Y, Chavarri-Guerra Y, et al.
JCO Glob Oncol
. 2022 Jul;
8:e2200104.
PMID: 35867948
Purpose: To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic individuals...
8.
Schmidlen T, Bristow S, Hatchell K, Esplin E, Nussbaum R, Haverfield E
Front Genet
. 2022 Jul;
13:867226.
PMID: 35783293
Although multiple factors can influence the uptake of cascade genetic testing, the impact of proband indication has not been studied. We performed a retrospective, cross-sectional study comparing cascade genetic testing...
9.
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...
10.
Leal-Pardinas F, Truty R, McKnight D, Johnson B, Morales A, Bristow S, et al.
Epilepsia
. 2022 Apr;
63(7):e68-e73.
PMID: 35474188
This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel...