Gozde T. Akgumus, MS, CGC

Gozde T. Akgumus, MS, CGC

Gozde Akgumus, MS, CGC, is a genetic counselor in the Division of Genomic Diagnostics at The Children's Hospital of Philadelphia

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

Education and Training

Board Certification

Certified Genetic Counselor (CGC)

Undergraduate Degree

BS in Molecular Biology & Genetics - Bogazici University, Istanbul, Turkey

Graduate Degree

MS in Genetic Counseling - Arcadia University, Glenside, PA

Titles and Academic Titles

Genetic Counselor

Departments and Services



Mishra-Gorur, K., Çağlayan, A.O., Schaffer, A.E., Chabu, C., Henegariu, O., Vonhoff, F., Akgümüş, G.T., … & Günel, M. (2014). Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron, 84(6), 1226-1239.

Caglayan, A. O., Comu, S., Baranoski, J. F., Parman, Y., Kaymakçalan, H., Akgumus, G. T., ... & Gunel, M. (2014). NGLY1 Mutation Causes Neuromotor Impairment, Intellectual Disability, and Neuropathy. European Journal of Medical Genetics, pii: S1769-7212(14)00168-2.

Caglayan, A. O., Baranoski, J. F., Aktar, F., Han, W., Tuysuz, B., Guzel, A., Guclu, B., Kaymakcalan, H., Aktekin, B., Akgumus, G. T., ... & Gunel, M. (2014). Brain Malformations Associated with Knobloch Syndrome–Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations. Pediatric Neurology, 51(6), 806-813.



Akgumus, G., Capezzuto, A., Bailey, A., Nance, M., Adzick, N. S., Emanuel, B., Zackai, E. H. and McDonald-McGinn, D. M. (2014). Congenital Diaphragmatic Hernia as an Important Prenatal Clue to the Diagnosis of 22q11.2 Deletion Syndrome. Abstract submitted to the 9th Biennial International 22q11.2 Deletion Syndrome Meeting in Mallorca, Spain.


Book Translations

Akgumus, G.T. (2014) “Primary Care and the Evolving US Health Care System” in Essentials of Family Medicine, translation to Turkish. Sloane, P. D. Lippincott Williams & Wilkins.

Posters and Presentations


Akgumus, G.T., Fan, J., Wertheim, G.B., Mulchandani, S., Zelley, K., Nichols, K.E., Wilmoth, D.M, Gleason, A.G., Zackai, E.H., Biegel, J.A., Spinner, N.B., Li, M., Conlin, L.K., Deardorff, M.A., Luo, M. (2015). Mosaic Monosomy 7: A New Syndrome with Increased Risk of Hematologic Disease. Selected as a ‘Blue Ribbon’ poster presentation at 2016 ACMG Annual Clinical Genetics Meeting in Tampa, FL.

Awards and Honors

2016, Carolyn Mills Lovell Genetic Counselor’s Award by the American College of Medical Genetics

Ellington Beavers Award for Intellectual Inquiry at Arcadia University, research on “Professional Issues for International Genetic Counselors”

National Society of Genetic Counselors International SIG Scholarship, research on “Professional Issues for International Genetic Counselors”

Arcadia University Genetic Counseling Program Scholarship

Leadership and Memberships

Memberships in Professional Organizations

Member, National Society of Genetic Counselors (NSGC)
Member, NSGC International SIG (Special Interest Group)
Member, NSGC Cancer SIG (Special Interest Group)