Funke BH - Search Results

1

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.

Kudalkar EM, Almontashiri NA, Huang C, Anekella B, Bowser M, Hynes E, Garlick R, Funke BH. Kudalkar EM, et al. Among authors: funke bh. J Mol Diagn. 2016 Nov;18(6):882-889. doi: 10.1016/j.jmoldx.2016.07.005. Epub 2016 Sep 15. J Mol Diagn. 2016. PMID: 27639548 Free article.

2

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.

Pugh TJ, Amr SS, Bowser MJ, Gowrisankar S, Hynes E, Mahanta LM, Rehm HL, Funke B, Lebo MS. Pugh TJ, et al. Genet Med. 2016 Jul;18(7):712-9. doi: 10.1038/gim.2015.156. Epub 2015 Dec 17. Genet Med. 2016. PMID: 26681316 Free PMC article.

3

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. 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.

4

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.

5

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH. Mandelker D, et al. Among authors: funke bh. J Mol Diagn. 2014 Nov;16(6):639-47. doi: 10.1016/j.jmoldx.2014.06.003. Epub 2014 Aug 23. J Mol Diagn. 2014. PMID: 25157971 Free article.

6

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, Rehm HL, Amr SS. Abou Tayoun AN, et al. Among authors: funke bh. Genet Med. 2016 Jun;18(6):545-53. doi: 10.1038/gim.2015.141. Epub 2015 Nov 12. Genet Med. 2016. PMID: 26562227 Free article. Review.

7

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.

Rehm HL, Hynes E, Funke BH. Rehm HL, et al. Among authors: funke bh. J Pers Med. 2016 Jan 27;6(1):8. doi: 10.3390/jpm6010008. J Pers Med. 2016. PMID: 26828522 Free PMC article.

8

NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

Ceyhan-Birsoy O, Miatkowski MM, Hynes E, Funke BH, Mason-Suares H. Ceyhan-Birsoy O, et al. Among authors: funke bh. Hum Mutat. 2018 Jul;39(7):954-958. doi: 10.1002/humu.23535. Epub 2018 May 16. Hum Mutat. 2018. PMID: 29696744 Free PMC article.

9

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.

Tayoun AN, Mason-Suares H, Frisella AL, Bowser M, Duffy E, Mahanta L, Funke B, Rehm HL, Amr SS. Tayoun AN, et al. Hum Mutat. 2016 Jan;37(1):119-26. doi: 10.1002/humu.22912. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26444186

10

Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

Gowrisankar S, Lerner-Ellis JP, Cox S, White ET, Manion M, LeVan K, Liu J, Farwell LM, Iartchouk O, Rehm HL, Funke BH. Gowrisankar S, et al. Among authors: funke bh. J Mol Diagn. 2010 Nov;12(6):818-27. doi: 10.2353/jmoldx.2010.100014. Epub 2010 Sep 23. J Mol Diagn. 2010. PMID: 20864638 Free PMC article.

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