Roya Mostafavi, MS, LCGC

Roya Mostafavi, MS, LCGC

  • Genetic Counselor II

Departments

Divisions

Education

BS – Biology, University of Memphis, Memphis, TN
MS – Genetic Counseling, University of Texas Health Science Center, Houston, TX

Honors & Awards

  • 2011 Barbara L. Kennedy Memorial Scholarship in Genetic Counseling

Professional Organizations

  • National Society of Genetic Counselors, 2012-Present
  • Texas Society of Genetic Counselors,  2010-2012
  • Tennessee Genetic Counselors Association, 2012-Present

Research Interests

I am a genetic counselor with an interest in the outcomes of genetic counseling in the clinical environment, particularly with regards to the impact genetic counselors have on patients. Specific interests include: understanding patient considerations in deciding to undergo genetic testing and psychosocial impact of a genetic diagnosis on patients and their families.

Selected Publications

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U: Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet 2015 Sep 3; 97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001.

Gambin T, Yuan B, Bi W, Coban-Akdemir Z, Liu P, Rosenfeld J, Pursley A,. Nagamani S, Marom R, Golla S, Dengle L, Petrie H, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao H, Hannele K, Brown CW, Urraca-Gutierrez N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck A, Immken L, Elton LE, Varghese S, Buchanan E, Schaaf CP, Walkiewicz M, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Yang Y, Breman AM, Smith JL, Cheung S, Lupski, JR, Patel A, Shaw CA, Stankiewicz P: Identification of novel disease genes from de novo exonic copy-number variants. Genome Medicine. Genome Med. 2017 Sep 21; 9(1):83. doi: 10.1186/s13073-017-0472-7.

Last update: June 2018