Publications by authors named "Ahmad N Abou Tayoun"

31Publications

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.

Genome Res 2019 07 24;29(7):1144-1151. Epub 2019 Jun 24.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1101/gr.240994.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633260PMC
July 2019

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.

Hum Mutat 2019 03 10;40(3):243-257. Epub 2019 Jan 10.

Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.

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http://doi.wiley.com/10.1002/humu.23701
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http://dx.doi.org/10.1002/humu.23701DOI Listing
March 2019

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

Hum Mutat 2018 11 7;39(11):1517-1524. Epub 2018 Sep 7.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/humu.23626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185798PMC
November 2018

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

J Mol Diagn 2018 11 8;20(6):789-801. Epub 2018 Aug 8.

Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Genetics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578183009
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http://dx.doi.org/10.1016/j.jmoldx.2018.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204605PMC
November 2018

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

J Mol Diagn 2018 09 22;20(5):643-652. Epub 2018 Jun 22.

Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Genetics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.05.003DOI Listing
September 2018

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.

Epilepsy Res 2018 09 18;145:89-92. Epub 2018 Jun 18.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pathology & Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211183002
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http://dx.doi.org/10.1016/j.eplepsyres.2018.06.008DOI Listing
September 2018

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

Genet Med 2018 12 29;20(12):1600-1608. Epub 2018 Mar 29.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2018.48DOI Listing
December 2018

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

Prenat Diagn 2018 01 17;38(1):26-32. Epub 2017 Apr 17.

Mother Infant Research Institute, Tufts Medical Center, Boston, MA, USA.

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http://dx.doi.org/10.1002/pd.5038DOI Listing
January 2018

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

Genet Med 2017 05 22;19(5):496-504. Epub 2016 Sep 22.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2016.134DOI Listing
May 2017

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

Expert Rev Mol Diagn 2016 09 17;16(9):987-99. Epub 2016 Aug 17.

a Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine , The Children's Hospital of Philadelphia , Philadelphia , PA , USA.

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http://dx.doi.org/10.1080/14737159.2016.1209411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040519PMC
September 2016

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

Genet Med 2016 06 12;18(6):545-53. Epub 2015 Nov 12.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2015.141DOI Listing
June 2016

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

Hum Mutat 2016 Jan 29;37(1):119-26. Epub 2015 Oct 29.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA.

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http://doi.wiley.com/10.1002/humu.22912
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http://dx.doi.org/10.1002/humu.22912DOI Listing
January 2016

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

Exp Mol Pathol 2015 Apr 13;98(2):214-8. Epub 2015 Jan 13.

Department of Pathology, Geisel School of Medicine at Dartmouth, Hanover, NH, United States; Dartmouth Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.yexmp.2015.01.011DOI Listing
April 2015

Development of a rapid clinical TPMT genotyping assay.

Clin Biochem 2014 Oct 2;47(15):126-9. Epub 2014 Aug 2.

Department of Pathology, The Geisel School of Medicine at Dartmouth, Hanover, NH, USA; Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2014.07.088DOI Listing
October 2014

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

Exp Mol Pathol 2014 Aug 16;97(1):111-5. Epub 2014 Jun 16.

Department of Pathology, Geisel School of Medicine at Dartmouth, Hanover, NH, United States; Dartmouth Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.yexmp.2014.06.005DOI Listing
August 2014

Democratizing molecular diagnostics for the developing world.

Am J Clin Pathol 2014 Jan;141(1):17-24

Dept of Pathology, Dartmouth Hitchcock Medical Center, 1 Medical Center Dr, Lebanon, NH 03756;

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http://dx.doi.org/10.1309/AJCPA1L4KPXBJNPGDOI Listing
January 2014

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

Clin Chem 2013 Oct 17;59(10):1481-8. Epub 2013 Jun 17.

Department of Pathology, Geisel School of Medicine at Dartmouth, Hanover, NH, and Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH;

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http://dx.doi.org/10.1373/clinchem.2013.206466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570467PMC
October 2013

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

Clin Chim Acta 2013 Jun 29;422:1-4. Epub 2013 Mar 29.

Department of Pathology, Geisel School of Medicine at Dartmouth, Hanover, NH, United States.

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http://dx.doi.org/10.1016/j.cca.2013.03.023DOI Listing
June 2013

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

Exp Mol Pathol 2012 Oct 10;93(2):261-3. Epub 2012 May 10.

Department of Pathology, Geisel School of Medicine at Dartmouth, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.

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http://dx.doi.org/10.1016/j.yexmp.2012.05.002DOI Listing
October 2012

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

PLoS One 2012 11;7(4):e34665. Epub 2012 Apr 11.

Department of Biology, Dartmouth College, Hanover, New Hampshire, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0034665PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324495PMC
August 2012

Ceramide kinase regulates phospholipase C and phosphatidylinositol 4, 5, bisphosphate in phototransduction.

Proc Natl Acad Sci U S A 2009 Nov 5;106(47):20063-8. Epub 2009 Nov 5.

Program in Gene Function and Expression and Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA.

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http://dx.doi.org/10.1073/pnas.0911028106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785292PMC
November 2009