Emily Graves Allen, PhD

Office: 1462 Clifton Road, 300

Phone: 404-778-8480

Email: emgrave@emory.edu

Additional Contact Information

Mailing Address:

1462 Clifton Rd
Suite 300

Atlanta, GA 30322


My research interests focus on two major areas: understanding the phenotypic consequence of carrying the premutation form of the FMR1 gene and understanding the risk factors leading to nondisjunction in Down syndrome cases. I work with Dr. Stephanie Sherman on these two distinct population based studies.

Fragile X syndrome is an inherited form of mental retardation that is a result of silencing of the FMR1 gene. In more than 98% of cases the silencing is caused by an expansion of a CGG repeat in the 5’ untranslated region of the gene to greater than 200 repeats. Premutation carriers, those with 55-199 repeats, were originally thought to have no phenotypic consequence. There is now convincing evidence of several premutation-associated phenotypes: female premutation carriers are at increased risk for primary ovarian insufficiency (FXPOI) and older premutation males, and some females, are at increased risk for fragile X-associated tremor/ataxia syndrome (FXTAS). We are interested in studying features of these known disorders in conjunction with neuropsychological measures and molecular tests.

Down syndrome is caused by abnormal segregation of chromosome 21 during the formation of eggs and sperm in approximately 95% of cases. Our lab has established a large population-based study of Down syndrome live births and the parents. We have combined cytogenetic, molecular, and epidemiological measures to understand the cause of the chromosomal error.

Areas of Specialization

  • Genetic causes of intellectual and developmental disorders
  • Nondisjunction of human chromosomes
  • Primary ovarian insufficiency
  • Genetic mapping of complex traits
  • Fragile X syndrome
  • Down syndrome


  • PhD, Human Genetics, Emory University, 1999-2004
  • BS, University of Georgia, 1995-1998


Allen EG, He W, Yadav-Shah M, and Sherman SL. A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Human Genetics (2004) 114(5):439-47.

Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Brown J, Edwards I, Harkreader K, He W, Leslie ML, Novak G, Paquin JJ, Scott EH, Shubeck LJ, Sowemimo DJ, Taft L, Yadav-Shah M, Sherman SL. Association of FMR1 repeat size with  ovarian dysfunction. Human Reproduction (2005) 20(2): 402-12. 

Allen EG,  Sherman SL, Abramowitz A, Leslie M, Novak G, Rusin M, Scott E, Letz R. Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance. Behavior Genetics (2005) 35(4):435-45.

Sherman SL, Freeman SB, Allen EG, Lamb NE. Risk factors for nondisjunction of trisomy 21. Cytogenet Genome Res (2005) 111(3-4):273-80.

Freeman SB, Allen EG, Oxford-Wright CL, Tinker SW, Druschel C, Hobbs CA, O’Leary LA, Romitti PA, Royle MH, Torfs CP, Sherman SL.  The National Down Syndrome Project: design and implementation. Public Health Rep. (2007) 122(1):62-72.

Sherman SL, Taylor K, Allen EG. FMR1 premutation: a leading cause of inherited ovarian dysfunction. In: Arrieta I, Penagarikano O, Telez M (eds). Fragile Sites: New Discoveries and Changing Perspectives. Nova Science Publishers, 2007.

Allen EG, Sullivan AK, Marcus M, Small C, Dominguez C, Epstein MP, Charen K, He W, Taylor K, Sherman SL. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Human Reproduction (2007) 22(8): 2142-2152.

Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down Syndrome. Ment Retard Dev Disabil Res Rev (2007) 13(3): 221-7.  

Allen EG, Juncos J, Letz R, Rusin M, Hamilton D, Novak G, Shubeck L, Tinker SW, Sherman SL. Detection of early FXTAS motor symptoms using the CATSYS computerized neuromotor test battery. J Med Genet (2008) 45 (5): 290-7.

Rohr J, Allen EG, Charen K, Giles J, He W, Dominguez C, Sherman SL. Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study. Human Reproduction (2008) 23(5): 1220-5.

Freeman SB, Bean LH, Allen EG, Tinker SW, Locke AE, Druschel C, Hobbs CA, Romitti PA, Royle MH, Torfs CP, Dooley KJ, Sherman SL. Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med (2008) 10(3): 173-80.

Hunter JE, Allen EG, Abramowitz A, Rusin M, Leslie M, Novak G, Hamilton D, Shubeck L, Charen K, Sherman SL. Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behav Genet (2008) 38(5): 493-502.

Hunter JE, Allen EG, Abramowitz A, Rusin M, Leslie M, Novak G, Hamilton D, Shubeck L, Charen K, Sherman SL. No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet (2008) 83(6): 692-702.

Allen EG, Freeman SB, Druschel C, Hobbs CA, O’Leary LA, Romitti PA, Royle MH, Torfs CP, Sherman SL. Maternal age and risk for trisomy 21 asses by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet (2009) 125(1): 41-52.

Epstein MP, Hunter JE, Allen EG, Sherman SL, Lin X, Boehnke. A Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes. Stat Biosci (2009) 1: 181-198.