Graduate School
Stanford University, Palo Alto, California, 2011

Areas of Interest

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


  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.
  7. Nunley PB, Hashmi SS, Johnson A, Ashfaq M, Farach LS, Singletary CN, Stevens BK. Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities using a novel mathematical model. Prenatal Diagn. 2020 Oct 31. doi: 10.1002/pd.5858. Epub ahead of print.