Graduate School
Stanford University, Palo Alto, California, 2011

Areas of Interests

Clinical Interests

  • Genetics of Osteogenesis Imperfecta
  • Teratology and Teratogen Counseling

Research Interests

  • Impact of genetic disorders on self-perception, self- esteem, etc.
  • Identification, Classification and Nature of Genetic Variants
  • Medical Genetic Services available Internationally
  • Cultural Diversity and Genetic Counseling


Publication Information

  1. Ashfaq, M., Amanullah, F., Ashfaq, A and Ormond, K.: The Views of Pakistani Doctors Regarding Genetic Counseling Services – Is there a Future? J Genet Couns. 22(6):721-32, 2013.
  2. Rosnau, K., Hashm, S., Northrup, H., Slopis, J., Noblin, S. and Ashfaq, M.: Knowledge and Self-Esteem of Individuals with Neurofibromatosis Type 1 (NF1). J Genet Couns. 26(3):630-627, 2017.
  3. Gambin, T., Yuan, B., Bi, W., Liu, P., Rosenfeld, J.A., Coban-Akdemir, Z., Pursley, A.N., Nagamani, S.C., Marom, R., Golla, S., Dengle, L., Petrie, H.G., Matalon, R., Emrick, L., Proud, M.B., Treadwell-Deering, D., Chao, H.T., Koillinen, H., Brown, C., Urraca, N., Mostafavi, R., Bernes, S., Roeder, E.R., Nugent, K.M., Bader, P.I., Bellus, G., Cummings, M., Northrup, H., Ashfaq, M., Westman, R., Wildin, R., Beck, A. E., Immken, L., Elton, L., Varghese, S., Buchanan, E., Faivre, L., Lefebvre, M., Schaaf, C.P., Walkiewicz, M., Yang, Y., Kang, S.L., Lalani, S.R., Bacino, C.A., Beaudet, A.L., Breman, A.M., Smith, J.L., Cheung, S.W., Lupski, J., Patel, A., Shaw, C.A. and Stankiewicz P.: Identification of novel candidate disease genes from de novo exonic copy number variants Genome Med. 2017 Sep 21;9(1):83.
  4. Zirkelbach, E., Hashmi, S., Ramdaney, A., Dunnington, D., Ashfaq, M., Nugent, E. and Wilson, K.: Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources. J Genet Couns. 2018 Aug; 27(4):761-769.
  5. Ashfaq, M & Northrup, H. Approach to Osteogenesis Imperfect.  In: Toy EC, Toy AL, eds.  Case Files Teaching Cases.  New York: McGraw-Hill, in press.
  6. Mowrey, K. E., Ashfaq, M., Pearson, D. A., Hashmi, S. S., Roberds, S. L., Farach, L. S., & Northrup, H. (2018). The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment. Pediatric Neurology.


American Board of Genetic Counseling, 2012