Amr SS - Search Results

1

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. DiStefano MT, et al. Among authors: amr ss. Genet Med. 2019 Oct;21(10):2239-2247. doi: 10.1038/s41436-019-0487-0. Epub 2019 Mar 21. Genet Med. 2019. PMID: 30894701 Free PMC 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: amr ss. 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: amr ss. 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: amr ss. 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.

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: amr ss. 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

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

Amr SS, Al Turki SH, Lebo M, Sarmady M, Rehm HL, Abou Tayoun AN. Amr SS, et al. Genet Med. 2017 May;19(5):496-504. doi: 10.1038/gim.2016.134. Epub 2016 Sep 22. Genet Med. 2017. PMID: 27657688 Free article.

7

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Almontashiri NAM, Alswaid A, Oza A, Al-Mazrou KA, Elrehim O, Tayoun AA, Rehm HL, Amr SS. Almontashiri NAM, et al. Among authors: amr ss. Genet Med. 2018 Apr;20(5):536-544. doi: 10.1038/gim.2017.143. Epub 2017 Oct 19. Genet Med. 2018. PMID: 29048421 Free PMC article.

8

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.

Amr SS, Murphy E, Duffy E, Niazi R, Balciuniene J, Luo M, Rehm HL, Abou Tayoun AN. Amr SS, et al. Clin Chem. 2018 Apr;64(4):705-714. doi: 10.1373/clinchem.2017.280685. Epub 2018 Jan 16. Clin Chem. 2018. PMID: 29339441

9

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.

Austin-Tse CA, Mandelker DL, Oza AM, Mason-Suares H, Rehm HL, Amr SS. Austin-Tse CA, et al. Among authors: amr ss. Eur J Med Genet. 2018 Oct;61(10):621-626. doi: 10.1016/j.ejmg.2018.04.006. Epub 2018 Apr 12. Eur J Med Genet. 2018. PMID: 29655801

10

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: amr ss. 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.

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