Nussbaum RL - Search Results

1

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.

Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL. Lincoln SE, et al. Among authors: nussbaum rl. JCO Precis Oncol. 2017 Jul;1:PO.16.00020. doi: 10.1200/PO.16.00020. Epub 2017 Apr 11. JCO Precis Oncol. 2017. PMID: 28782058 Free PMC article.

2

Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.

Nussbaum RL, Yang S, Lincoln SE. Nussbaum RL, et al. J Clin Oncol. 2017 Apr 10;35(11):1259-1261. doi: 10.1200/JCO.2016.70.9451. Epub 2017 Jan 30. J Clin Oncol. 2017. PMID: 28135136 No abstract available.

3

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. Yang S, et al. Among authors: nussbaum rl. Genet Med. 2017 Oct;19(10):1118-1126. doi: 10.1038/gim.2017.60. Epub 2017 Jun 1. Genet Med. 2017. PMID: 28569743 Free PMC article.

4

Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.

Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. Yang S, et al. Among authors: nussbaum rl. Genet Med. 2018 Feb;20(2):282. doi: 10.1038/gim.2017.198. Epub 2017 Dec 7. Genet Med. 2018. PMID: 29215652 Free PMC article.

5

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: nussbaum rl. Genet Med. 2019 Jan;21(1):114-123. doi: 10.1038/s41436-018-0033-5. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895855 Free PMC article.

6

Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark.

Yang S, Axilbund JE, O'Leary E, Michalski ST, Evans R, Lincoln SE, Esplin ED, Nussbaum RL. Yang S, et al. Among authors: nussbaum rl. Ann Surg Oncol. 2018 Oct;25(10):2925-2931. doi: 10.1245/s10434-018-6621-4. Epub 2018 Jul 11. Ann Surg Oncol. 2018. PMID: 29998407

7

Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine.

Esplin ED, Haverfield E, Yang S, Aradhya S, Nussbaum RL. Esplin ED, et al. Among authors: nussbaum rl. Genet Med. 2019 May;21(5):1250-1251. doi: 10.1038/s41436-018-0302-3. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245515 Free article. No abstract available.

8

Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL. Beitsch PD, et al. Among authors: nussbaum rl. J Clin Oncol. 2019 Feb 20;37(6):453-460. doi: 10.1200/JCO.18.01631. Epub 2018 Dec 7. J Clin Oncol. 2019. PMID: 30526229 Free PMC article.

9

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors; Burn J, Chanock S, Rätsch G, Spurdle AB. Cline MS, et al. PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30586411 Free PMC article.

10

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.

Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS. Lincoln SE, et al. Among authors: nussbaum rl. J Mol Diagn. 2019 Mar;21(2):318-329. doi: 10.1016/j.jmoldx.2018.10.009. Epub 2019 Jan 3. J Mol Diagn. 2019. PMID: 30610921 Free PMC article.

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