Ahmad N. Abou Tayoun, PhD, FACMG

Ahmad N. Abou Tayoun, PhD, FACMG

Ahmad N. Abou Tayoun, PhD, FACMG, is a director in the Division of Genomic Diagnostics at Children's Hospital of Philadelphia.

Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training


Clinical Molecular Genetics, Laboratory for Molecular Medicine, Harvard Medical School, Boston, MA

Board Certification

Diplomate of the American Board of Medical Genetics and Genomics (DABMG)
Fellow of the American College of Medical Genetics and Genomics (FACMG)

Undergraduate Degree

BS in Biology - American University of Beirut, Beirut, Lebanon

Graduate Degree

PhD in Genetics - Geisel School of Medicine at Dartmouth, Hanover, NH
MS in Biology - American University of Beirut, Beirut, Lebanon

Titles and Academic Titles

Director, Division of Genomic Diagnostics

Assistant Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania

Departments and Services




Sami S. Amr, Saeed H. Al Turki, Matthew Lebo, Mahdi Sarmady, Heidi L. Rehm, Ahmad N. Abou Tayoun: Using Large Sequencing Datasets to Refine Intragenic disease regions and Prioritize Clinical Variant Interpretation. Genetics in Medicine . In Press, 2016.

Ahmad N. Abou Tayoun, Bryan Krock, Nancy B. Spinner: Sequencing-based diagnostics for pediatric genetic diseases: progress and potential. Expert Review of Molecular Diagnostics. July 2016.

Abou Tayoun Ahmad N, Al Turki Saeed H, Oza Andrea M, Bowser Mark J, Hernandez Amy L, Funke Birgit H, Rehm Heidi L, Amr Sami S: Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genetics in Medicine 18(6): 545-53, June 2016.

Tayoun Ahmad N Abou, Mason-Suares Heather, Frisella Ashley L, Bowser Mark, Duffy Elizabeth, Mahanta Lisa, Funke Birgit, Rehm Heidi L, Amr Sami S: Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. Human mutation 37(1): 119-26, Jan 2016.


Abou Tayoun Ahmad N, Burchard Paul R, Malik Imran, Scherer Axel, Tsongalis Gregory J: Democratizing molecular diagnostics for the developing world. American journal of clinical pathology 141(1): 17-24, Jan 2014.


Abou Tayoun Ahmad N, Tunkey Christopher D, Pugh Trevor J, Ross Tristen, Shah Minita, Lee Clarence C, Harkins Timothy T, Wells Wendy A, Tafe Laura J, Amos Christopher I, Tsongalis Gregory J: A comprehensive assay for CFTR mutational analysis using next-generation sequencing. Clinical chemistry 59(10): 1481-8, Oct 2013.

Abou Tayoun Ahmad N, de Abreu Francine B, Lefferts Joel A, Tsongalis Gregory J: A clinical PCR fragment analysis assay for TA repeat sizing in the UGT1A1 promoter region. Clinica chimica acta; international journal of clinical chemistry 422: 1-4, Jun 2013.

Xue Yue*, Abou Tayoun Ahmad N*, Abo Kristine M, Pipas J Marc, Gordon Stuart R, Gardner Timothy B, Barth Richard J, Suriawinata Arief A, Tsongalis Gregory J: MicroRNAs as diagnostic markers for pancreatic ductal adenocarcinoma and its precursor, pancreatic intraepithelial neoplasm. Cancer genetics 206(6): 217-21, Jun 2013. *Equal contribution.

Posters and Presentations

Lectures by Invitation

Abou Tayoun AN. Defining Variation Sensitive Regions in Genes Associated with Disease. Platform Presentation, American Society of Human Genetics; 2015; Baltimore, MD.

Awards and Honors

2013-2014, Question of the Week Award, Harvard Medical School Genetics Training Program

2005, Suad El Sabbah Award, American University of Beirut, Best Masters thesis in Faculty of Arts & Sciences

2005-2006, Fellowship Training Award, Molecular and Cellular Biology PhD Program, Dartmouth College

1999, Lebanese Prime Minister Rafic Hariri Scholarship, Country of Lebanon

Editorial and Academic Positions

Editorial Positions


2013-present, International Journal of Pediatric Otorhinolaryngology
2013-present, Clinical Chemistry
2013-present, Cancer Genetics
2013-present, American Journal of Medical Genetics
2013-present, Clinical Biochemistry

Academic and Institutional Committees

2016-present, Group Leader, ClinGen-Clinical Gene Validity Workgroup

Leadership and Memberships

Memberships in Professional Organizations


2011-2013, Association of Molecular Pathology


2016-present, American College of Medical Genetics and Genomics (Fellow)
2013-present, American Society of Human Genetics
2012-2013, American Society for Investigative Pathology
2011-2012, American Association for Clinical Chemistry