Topper SE - Search Results

1

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Kobayashi Y, Yang S, Nykamp K, Garcia J, Lincoln SE, Topper SE. Kobayashi Y, et al. Among authors: topper se. Genome Med. 2017 Feb 6;9(1):13. doi: 10.1186/s13073-017-0403-7. Genome Med. 2017. PMID: 28166811 Free PMC article.

2

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: topper s. 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.

3

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.

Garcia J, Tahiliani J, Johnson NM, Aguilar S, Beltran D, Daly A, Decker E, Haverfield E, Herrera B, Murillo L, Nykamp K, Topper S. Garcia J, et al. Front Cardiovasc Med. 2016 Jun 27;3:20. doi: 10.3389/fcvm.2016.00020. eCollection 2016. Front Cardiovasc Med. 2016. PMID: 27446933 Free PMC article.

4

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.

5

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: topper s. 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.

6

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, Moyer K, Nagan N, Rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL; ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group. Harrison SM, et al. Hum Mutat. 2018 Nov;39(11):1641-1649. doi: 10.1002/humu.23643. Hum Mutat. 2018. PMID: 30311378 Free PMC article.

7

Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9. Genet Med. 2020. PMID: 31346256 Free PMC article.

8

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: topper s. 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.

9

Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.

Friedman E, Efrat N, Soussan-Gutman L, Dvir A, Kaplan Y, Ekstein T, Nykamp K, Powers M, Rabideau M, Sorenson J, Topper S. Friedman E, et al. Br J Cancer. 2015 Feb 17;112(4):765-8. doi: 10.1038/bjc.2015.14. Epub 2015 Jan 29. Br J Cancer. 2015. PMID: 25633036 Free PMC article.

10

Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.

Neben CL, Zimmer AD, Stedden W, van den Akker J, O'Connor R, Chan RC, Chen E, Tan Z, Leon A, Ji J, Topper S, Zhou AY. Neben CL, et al. J Mol Diagn. 2019 Jul;21(4):646-657. doi: 10.1016/j.jmoldx.2019.03.001. Epub 2019 Jun 11. J Mol Diagn. 2019. PMID: 31201024 Free article.

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