Abou Tayoun AN - Search Results

1

Evaluating the impact of in silico predictors on clinical variant classification.

Wilcox EH, Sarmady M, Wulf B, Wright MW, Rehm HL, Biesecker LG, Abou Tayoun AN. Wilcox EH, et al. Among authors: abou tayoun an. Genet Med. 2022 Apr;24(4):924-930. doi: 10.1016/j.gim.2021.11.018. Epub 2021 Dec 23. Genet Med. 2022. PMID: 34955381 Free PMC article.

2

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. 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.

3

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. Among authors: abou tayoun an. 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.

4

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.

Abou Tayoun AN, Spinner NB, Rehm HL, Green RC, Bianchi DW. Abou Tayoun AN, et al. Prenat Diagn. 2018 Jan;38(1):26-32. doi: 10.1002/pd.5038. Epub 2017 Apr 17. Prenat Diagn. 2018. PMID: 28345240 Free PMC article. Review.

5

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. Among authors: abou tayoun an. Clin Chem. 2018 Apr;64(4):705-714. doi: 10.1373/clinchem.2017.280685. Epub 2018 Jan 16. Clin Chem. 2018. PMID: 29339441

6

AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Guan Q, Balciuniene J, Cao K, Fan Z, Biswas S, Wilkens A, Gallo DJ, Bedoukian E, Tarpinian J, Jayaraman P, Sarmady M, Dulik M, Santani A, Spinner N, Abou Tayoun AN, Krantz ID, Conlin LK, Luo M. Guan Q, et al. Among authors: abou tayoun an. Genet Med. 2018 Dec;20(12):1600-1608. doi: 10.1038/gim.2018.48. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595809 Free article.

7

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel.

Niazi R, Gonzalez MA, Balciuniene J, Evans P, Sarmady M, Abou Tayoun AN. Niazi R, et al. Among authors: abou tayoun an. J Mol Diagn. 2018 Sep;20(5):643-652. doi: 10.1016/j.jmoldx.2018.05.003. Epub 2018 Jun 22. J Mol Diagn. 2018. PMID: 29936260 Free article.

8

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: abou tayoun an. 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.

9

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI). Abou Tayoun AN, et al. Hum Mutat. 2018 Nov;39(11):1517-1524. doi: 10.1002/humu.23626. Epub 2018 Sep 7. Hum Mutat. 2018. PMID: 30192042 Free PMC article.

10

Need for Automated Interactive Genomic Interpretation and Ongoing Reanalysis.

Sarmady M, Abou Tayoun A. Sarmady M, et al. JAMA Pediatr. 2018 Dec 1;172(12):1113-1114. doi: 10.1001/jamapediatrics.2018.2675. JAMA Pediatr. 2018. PMID: 30285033 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

70 results

Search Page

Filters