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Faculty Profile

Nicole B. Schreiber-Agus, Ph.D.

Dr. Nicole B. Schreiber-Agus

Professional Interests

Program for Jewish Genetic Health

               The overarching mission of the Program for Jewish Genetic Health (PJGH) of Yeshiva University and Einstein is to provide a centralized resource for the Jewish community and its future generations, addressing Jewish genetic health concerns from before birth to old age.  This is accomplished through education/awareness, genetic testing, and population research.  Many of the directors of the PJGH are faculty at Einstein and at Montefiore Medical Center. 

Please see for additional information and resources, including our online education series called (


Selected Publications


Schneider, A., Schreiber-Agus, N., Gross, S., et al. (2009). Population based Tay-Sachs Screening among Ashkenazi Jewish Young Adults in the 21st Century: Hexosaminidase A Enzyme Assay is Essential for Accurate Testing Am J Med Genet. Part A.149A:2444-2447.

Gross, SJ, Bajaj, K, Garry, D, Klugman, S, Karpel, BM, Roe, AM, Wagner, B, Zhan, J, Apfelroth, S, and  Schreiber-Agus N. (2011). Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes. Pren Diag. 31(3):259-66.

Nakagawa, S., Zhan, J., Sun, W.,  Ferreira, J.C.,  Keiles, S., Hambuch, T., Kammesheidt, A., Mark, B., Schneider, A., Gross, S., and Schreiber-Agus,  N.  (2012). Platelet Hexosaminidase A enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.  JIMD Reports.  6:1-6.

Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A. (2013) The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology. 80(17):1606-10.

Schreiber-Agus, N.  (2013). "The science of genetic testing.”  Invited chapter for Genetics and Genetic Diseases: Jewish Legal and Ethical Perspectives, Ed. Deena Cohen Zimmerman, Ktav Publishing House.

Klugman S, Schreiber-Agus N, Nazareth S, Evans EA. (2013) Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing. Genet Test Mol Biomarkers. 17(10):763-7. 

Ferreira JC, Schreiber-Agus N, Carter SM, Klugman S, Gregg AR, Gross SJ. (2014) Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze. Am J Obstet Gynecol. 211(3):197-204.
Hoffman JD, Park JJ, Schreiber-Agus N, Kornreich R, Tanner AK, Keiles S, Friedman KJ, Heim RA. (2014) The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities. Prenat Diagn. 34(12):1161-7. 


More Information About Dr. Nicole Schreiber-Agus

Genetics Department Faculty

Program for Jewish Genetic Health

Material in this section is provided by individual faculty members who are solely responsible for its accuracy and content.


Albert Einstein College of Medicine
Jack and Pearl Resnick Campus
1300 Morris Park Avenue
Block, Room 623
Bronx, NY 10461

Tel: 718.839.7911
Fax: 718.430.3140

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