Bowser M - Search Results

1

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: bowser m. 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.

2

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: bowser m. 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.

3

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. Among authors: bowser m. Hum Mutat. 2016 Jan;37(1):119-26. doi: 10.1002/humu.22912. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26444186

4

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: bowser mj. 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.

5

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. Among authors: bowser mj. 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.

6

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH. Ceyhan-Birsoy O, et al. Among authors: bowser mj. Mol Genet Genomic Med. 2015 Dec 16;4(2):143-51. doi: 10.1002/mgg3.187. eCollection 2016 Mar. Mol Genet Genomic Med. 2015. PMID: 27066507 Free PMC article.

7

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: bowser m. 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.

8

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: bowser m. 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.

9

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

DiStefano MT, Hemphill SE, Cushman BJ, Bowser MJ, Hynes E, Grant AR, Siegert RK, Oza AM, Gonzalez MA, Amr SS, Rehm HL, Abou Tayoun AN. DiStefano MT, et al. Among authors: bowser mj. J Mol Diagn. 2018 Nov;20(6):789-801. doi: 10.1016/j.jmoldx.2018.06.005. Epub 2018 Aug 8. J Mol Diagn. 2018. PMID: 30096381 Free PMC article.

10

Neptune: an environment for the delivery of genomic medicine.

Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.

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