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Items: 21

1.

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PMID:
30311386
2.

Need for Automated Interactive Genomic Interpretation and Ongoing Reanalysis.

Sarmady M, Abou Tayoun A.

JAMA Pediatr. 2018 Oct 1. doi: 10.1001/jamapediatrics.2018.2675. [Epub ahead of print] No abstract available.

PMID:
30285033
3.

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).

Hum Mutat. 2018 Nov;39(11):1517-1524. doi: 10.1002/humu.23626. Epub 2018 Sep 7.

PMID:
30192042
4.

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.

J Mol Diagn. 2018 Aug 8. pii: S1525-1578(18)30099-0. doi: 10.1016/j.jmoldx.2018.06.005. [Epub ahead of print]

PMID:
30096381
5.

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.

J Mol Diagn. 2018 Sep;20(5):643-652. doi: 10.1016/j.jmoldx.2018.05.003. Epub 2018 Jun 22.

PMID:
29936260
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.

Genet Med. 2018 Mar 29. doi: 10.1038/gim.2018.48. [Epub ahead of print]

PMID:
29595809
7.

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.

Clin Chem. 2018 Apr;64(4):705-714. doi: 10.1373/clinchem.2017.280685. Epub 2018 Jan 16.

PMID:
29339441
8.

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

Abou Tayoun AN, Spinner NB, Rehm HL, Green RC, Bianchi DW.

Prenat Diagn. 2018 Jan;38(1):26-32. doi: 10.1002/pd.5038. Epub 2017 Apr 17.

PMID:
28345240
9.

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.

Genet Med. 2017 May;19(5):496-504. doi: 10.1038/gim.2016.134. Epub 2016 Sep 22.

PMID:
27657688
10.

Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.

Abou Tayoun AN, Krock B, Spinner NB.

Expert Rev Mol Diagn. 2016 Sep;16(9):987-99. doi: 10.1080/14737159.2016.1209411. Epub 2016 Aug 17. Review.

11.

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.

Genet Med. 2016 Jun;18(6):545-53. doi: 10.1038/gim.2015.141. Epub 2015 Nov 12. Review.

PMID:
26562227
12.

A multiplex PCR assay for the simultaneous detection of Chlamydia trachomatis, Neisseria gonorrhoeae, and Trichomonas vaginalis.

Abou Tayoun AN, Burchard PR, Caliendo AM, Scherer A, Tsongalis GJ.

Exp Mol Pathol. 2015 Apr;98(2):214-8. doi: 10.1016/j.yexmp.2015.01.011. Epub 2015 Jan 13.

PMID:
25595915
13.

Development of a rapid clinical TPMT genotyping assay.

Burchard PR, Abou Tayoun AN, Lefferts JA, Lewis LD, Tsongalis GJ, Cervinski MA.

Clin Biochem. 2014 Oct;47(15):126-9. doi: 10.1016/j.clinbiochem.2014.07.088. Epub 2014 Aug 2.

PMID:
25093923
14.

A rapid RT-PCR assay for the detection of HIV-1 in human plasma specimens.

Burchard PR, Abou Tayoun AN, Scherer A, Tsongalis GJ.

Exp Mol Pathol. 2014 Aug;97(1):111-5. doi: 10.1016/j.yexmp.2014.06.005. Epub 2014 Jun 16.

PMID:
24945443
15.

Democratizing molecular diagnostics for the developing world.

Abou Tayoun AN, Burchard PR, Malik I, Scherer A, Tsongalis GJ.

Am J Clin Pathol. 2014 Jan;141(1):17-24. doi: 10.1309/AJCPA1L4KPXBJNPG. Review.

PMID:
24343733
16.

MicroRNAs as diagnostic markers for pancreatic ductal adenocarcinoma and its precursor, pancreatic intraepithelial neoplasm.

Xue Y, Abou Tayoun AN, Abo KM, Pipas JM, Gordon SR, Gardner TB, Barth RJ Jr, Suriawinata AA, Tsongalis GJ.

Cancer Genet. 2013 Jun;206(6):217-21. doi: 10.1016/j.cancergen.2013.05.020. Epub 2013 Aug 9.

PMID:
23933230
17.

A comprehensive assay for CFTR mutational analysis using next-generation sequencing.

Abou Tayoun AN, Tunkey CD, Pugh TJ, Ross T, Shah M, Lee CC, Harkins TT, Wells WA, Tafe LJ, Amos CI, Tsongalis GJ.

Clin Chem. 2013 Oct;59(10):1481-8. doi: 10.1373/clinchem.2013.206466. Epub 2013 Jun 17.

18.

A clinical PCR fragment analysis assay for TA repeat sizing in the UGT1A1 promoter region.

Abou Tayoun AN, de Abreu FB, Lefferts JA, Tsongalis GJ.

Clin Chim Acta. 2013 Jun 25;422:1-4. doi: 10.1016/j.cca.2013.03.023. Epub 2013 Mar 29.

PMID:
23545277
19.

Evaluating the thermostability of commercial fast real-time PCR master mixes.

Abou Tayoun AN, Ward BP, Maltezos G, Scherer A, Tsongalis GJ.

Exp Mol Pathol. 2012 Oct;93(2):261-3. doi: 10.1016/j.yexmp.2012.05.002. Epub 2012 May 10.

PMID:
22579954
20.

Roles of the Drosophila SK channel (dSK) in courtship memory.

Abou Tayoun AN, Pikielny C, Dolph PJ.

PLoS One. 2012;7(4):e34665. doi: 10.1371/journal.pone.0034665. Epub 2012 Apr 11.

21.

The Drosophila SK channel (dSK) contributes to photoreceptor performance by mediating sensitivity control at the first visual network.

Abou Tayoun AN, Li X, Chu B, Hardie RC, Juusola M, Dolph PJ.

J Neurosci. 2011 Sep 28;31(39):13897-910. doi: 10.1523/JNEUROSCI.3134-11.2011.

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