Funke B - Search Results

1

Design and Reporting Considerations for Genetic Screening Tests.

Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Hagenkord J, et al. Among authors: funke b. J Mol Diagn. 2020 May;22(5):599-609. doi: 10.1016/j.jmoldx.2020.01.014. Epub 2020 Feb 22. J Mol Diagn. 2020. PMID: 32092541 Free article. Review.

2

Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.

Santani A, Simen BB, Briggs M, Lebo M, Merker JD, Nikiforova M, Vasalos P, Voelkerding K, Pfeifer J, Funke B. Santani A, et al. Among authors: funke b. J Mol Diagn. 2019 May;21(3):369-374. doi: 10.1016/j.jmoldx.2018.11.004. Epub 2018 Dec 31. J Mol Diagn. 2019. PMID: 30605766 Free article. Review.

3

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.

Senol-Cosar O, Schmidt RJ, Qian E, Hoskinson D, Mason-Suares H, Funke B, Lebo MS. Senol-Cosar O, et al. Among authors: funke b. Genet Med. 2019 Dec;21(12):2765-2773. doi: 10.1038/s41436-019-0560-8. Epub 2019 May 31. Genet Med. 2019. PMID: 31147632 Free article.

4

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Santani A, Murrell J, Funke B, Yu Z, Hegde M, Mao R, Ferreira-Gonzalez A, Voelkerding KV, Weck KE. Santani A, et al. Among authors: funke b. Arch Pathol Lab Med. 2017 Jun;141(6):787-797. doi: 10.5858/arpa.2016-0517-RA. Epub 2017 Mar 21. Arch Pathol Lab Med. 2017. PMID: 28322587 Free article.

5

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Alfares AA, et al. Among authors: funke bh. Genet Med. 2015 Nov;17(11):880-8. doi: 10.1038/gim.2014.205. Epub 2015 Jan 22. Genet Med. 2015. PMID: 25611685 Free article.

6

Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Teekakirikul P, et al. J Mol Diagn. 2013 Mar;15(2):158-70. doi: 10.1016/j.jmoldx.2012.09.002. Epub 2012 Dec 27. J Mol Diagn. 2013. PMID: 23274168 Free article. Review.

7

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. Pugh TJ, et al. Among authors: funke bh. Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6. Genet Med. 2014. PMID: 24503780 Free article.

8

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS. Duzkale H, et al. Among authors: funke bh. Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257. Clin Genet. 2013. PMID: 24033266 Free PMC article.

9

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev SR. Jordan DM, et al. Am J Hum Genet. 2011 Feb 11;88(2):183-92. doi: 10.1016/j.ajhg.2011.01.011. Am J Hum Genet. 2011. PMID: 21310275 Free PMC article.

10

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

Mandelker D, Schmidt RJ, Ankala A, McDonald Gibson K, Bowser M, Sharma H, Duffy E, Hegde M, Santani A, Lebo M, Funke B. Mandelker D, et al. Among authors: funke b. Genet Med. 2016 Dec;18(12):1282-1289. doi: 10.1038/gim.2016.58. Epub 2016 May 26. Genet Med. 2016. PMID: 27228465 Free article.

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