Research Topics
Genomes and GenesSpecies | Stephanie L ShermanSummaryAffiliation: Emory University Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
Epidemiology of Down syndromeStephanie L Sherman
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Ment Retard Dev Disabil Res Rev 13:221-7. 2007..Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances...- Premature ovarian failure in the fragile X syndromeS L Sherman
Department of Genetics, Emory University School of Medicine, 1462 Clifton Road, Atlanta, GA 30322, USA
Am J Med Genet 97:189-94. 2000..Irrespective, women who carry the premutation allele should have not only genetic counseling but also fertility counseling to ensure that they reach their goals for reproduction... - Relationship of recombination patterns and maternal age among non-disjoined chromosomes 21S L Sherman
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA
Biochem Soc Trans 34:578-80. 2006..If confirmed, we will have further evidence for multiple risk factors for non-disjunction that act at different times in the meiotic process... - Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classesS L Sherman
Department of Genetics, Emory University, Atlanta, Georgia 30322, USA
Am J Med Genet 114:458-65. 2002..Spatial Ability scores were not associated with repeat number... - Risk factors for nondisjunction of trisomy 21S L Sherman
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Cytogenet Genome Res 111:273-80. 2005.... 
Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndromeEmily Graves Allen
Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
Neuropsychology 25:404-11. 2011..The purpose of this study was to investigate the neuropsychological profile among older males with the premutation who are at risk for FXTAS...
Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriersJessica Ezzell Hunter
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Biomedical Research Building, Suite 301, Atlanta, GA 30322, USA
Behav Genet 38:493-502. 2008..These results suggest that premutation carriers may be at risk for emotional morbidity; however, phenotypic differences were subtle and of small effect size...- Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphismsJessica Ezzell Hunter
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Am J Med Genet B Neuropsychiatr Genet 159:549-59. 2012..0001). Our data suggest that genetic variants in CRHR1 that associate with differential cortisol activation may also modulate levels of anxiety related to the stress of raising a child with FXS among women who carry an FMR1 premutation... - Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndromeAdam E Locke
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
Genet Epidemiol 34:613-23. 2010..1298A was over-transmitted to cases with AVSD (P=0.05) and under-transmitted to controls (P=0.02). We conclude, therefore, that disruption of the folate pathway contributes to the incidence of AVSD among individuals with DS... - Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome ProjectsEmily Graves Allen
Department of Human Genetics, Emory University, 2165 North Decatur Rd, Decatur, Atlanta, GA 30030, USA
Hum Genet 125:41-52. 2009..6). Lastly, we found no effect of grand-maternal age on the risk for maternal nondisjunction. This study emphasizes the complex association between advanced maternal age and nondisjunction of chromosome 21 during oogenesis... - Investigation of factors associated with paternal nondisjunction of chromosome 21Tiffany Renee Oliver
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Am J Med Genet A 149:1685-90. 2009.... - Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome ProjectSallie B Freeman
Department of Human Genetics, Emory University, Atlanta, Georgia 30033, USA
Genet Med 10:173-80. 2008..The population-based National Down Syndrome Project combined epidemiological and molecular methods to study congenital heart defects in Down syndrome... - Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome ProjectLora J H Bean
Department of Human Genetics, Emory University, Atlanta, Georgia, USA
Birth Defects Res A Clin Mol Teratol 91:885-93. 2011..Individuals with Down syndrome are at high risk for congenital heart defects and have been shown to have abnormal folate metabolism... - Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literatureJessica Ezzell Hunter
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Genet Med 11:79-89. 2009..The primary conclusion from this review is the need for further research using a standard protocol in a large multisite project to ensure the necessary sample size... - New insights into human nondisjunction of chromosome 21 in oocytesTiffany Renee Oliver
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America
PLoS Genet 4:e1000033. 2008..Our results emphasize the fact that human nondisjunction is a multifactorial trait that must be dissected into its component parts to identify specific associated risk factors... - The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritanceJessica Ezzell Hunter
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
Behav Genet 42:415-22. 2012..For both measures, FMR1 accounts for ~5% of the variance while polygenes account for ~50% of the residual variance, suggesting that the premutation acts in concert with additional genetic loci to influence the severity of ADHD symptoms... - Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21Tiffany Renee Oliver
Department of Human Genetics, Emory University School of Medicine, 615 Michael St, Suite 301, Whitehead Bldg, Atlanta, GA 30322, USA
Hum Genet 131:1039-46. 2012..These findings are important as they help us better understand mechanisms that may underlie both age-related and nonage-related meiotic chromosome mal-segregation... - Fragile X analysis of 1112 prenatal samples from 1991 to 2010Sarah L Nolin
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Prenat Diagn 31:925-31. 2011..To determine risks of expansion for normal, intermediate, and premutation FMR1 CGG repeats... - No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50Jessica Ezzell Hunter
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Am J Hum Genet 83:692-702. 2008..No significant interactions between repeat length and age were detected. Overall, these results indicate the lack of a global neuropsychological impact of carrying a premutation allele among adults under the age of 50... - Prevalence of the fragile X syndrome in African-AmericansDana C Crawford
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Am J Med Genet 110:226-33. 2002..Further population-based studies in diverse populations are necessary to explore the possibility that the prevalence of the fragile X syndrome differs among world populations... - Olfactory dysfunction in fragile X tremor ataxia syndromeJorge L Juncos
Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA
Mov Disord 27:1556-9. 2012..We investigated olfactory defects in fragile X-associated tremor/ataxia syndrome (FXTAS), a finding reported on in other neurodegenerative disorders with clinical features that overlap those of FXTAS... - Attitudes toward fragile X mutation carrier testing from women identified in a general population surveyAimee Anido
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
J Genet Couns 16:97-104. 2007..Counselors can assist in setting up a personalized road map with specific types of services that will be more applicable to the woman as her carrier status becomes more relevant... - A study of the distributional characteristics of FMR1 transcript levels in 238 individualsEmily G Allen
Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
Hum Genet 114:439-47. 2004..We have confirmed a significant linear relationship between transcript level and repeat size in males and females. The evidence for the linear effect is primarily within the premutation size alleles... - Association between maternal age and meiotic recombination for trisomy 21Neil E Lamb
Department of Human Genetics, Emory University, 615 Michael Street, Atlanta, GA 30322, USA
Am J Hum Genet 76:91-9. 2005..It is this risk, due to recombination-independent factors, that would be most influenced by increasing age, leading to the observed maternal age effect... - New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS)Jorge L Juncos
Department of Neurology, Emory University, Atlanta, GA 30032, USA
Neurogenetics 12:123-35. 2011..In both, global cognitive decline appears to track ataxia. Prospective longitudinal studies are needed to validate this proposed evolution of FXTAS and its relevance to future clinical trials design... - FMR1 and the fragile X syndrome: human genome epidemiology reviewD C Crawford
Centers for Disease Control and Prevention, Epidemic Intelligence Service, Division of Applied Public Health Training, Epidemiology Program Office, Atlanta, Georgia, USA
Genet Med 3:359-71. 2001..The timing as well as benefits and harms associated with the different screening strategies are the subject of current research and discussion... - Association of FMR1 repeat size with ovarian dysfunctionA K Sullivan
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Hum Reprod 20:402-12. 2005..Women who carry the FMR1 premutation allele have a significantly increased risk for ovarian dysfunction. We hypothesize that molecular characteristics of the FMR1 gene may explain this increased risk... - Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severityJessica Ezzell Hunter
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Genet Epidemiol 32:553-9. 2008..This result is important for proper counseling of women who carry FMR1 premutation alleles and for guidance of future studies to identify additional genes that influence ovarian insufficiency... - Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndromeKimberly F Kerstann
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Genet Epidemiol 27:240-51. 2004..As an example, we have applied these tools to a pilot study of Down syndrome-associated congenital heart defects... - Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African populationEmmanuel K Peprah
Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
Ann Hum Genet 74:316-25. 2010..Overall, we demonstrate that allelic diversity of the FMR1 locus among Ghanaians is comparable to African Americans, but includes a minority of CGG array structures not found in other populations... - The National Down Syndrome Project: design and implementationSallie B Freeman
Department of Human Genetics, Emory University, Atlanta, GA, USA
Public Health Rep 122:62-72. 2007.... - Examination of FMR1 transcript and protein levels among 74 premutation carriersEmmanuel Peprah
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
J Hum Genet 55:66-8. 2010..Taken together, these results suggest that the 80-89-repeat group may lead to different properties that increase the efficiency of translation compared with other premutation repeat size groups... - Smarter clustering methods for SNP genotype callingYan Lin
Department of Biostatistics, Department of Medicine, Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA
Bioinformatics 24:2665-71. 2008..Calling trisomic genotypes is a more complicated problem, and the addition of external information becomes very important... - Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNABradford Coffee
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Am J Hum Genet 85:503-14. 2009..Given the trials now underway for possible FXS treatments, this method could be used in newborn or infant screening as a way of ensuring early interventions for FXS... - Effect of meiotic recombination on the production of aneuploid gametes in humansN E Lamb
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Cytogenet Genome Res 111:250-5. 2005..Future studies are expected to shed new light on the timing and placement of recombination, providing additional clues to the link between altered recombination and chromosome nondisjunction... - Behavioral genetics '97: ASHG statement. Recent developments in human behavioral genetics: past accomplishments and future directionsS L Sherman
Department of Genetics, Emory University, Atlanta, GA, USA
Am J Hum Genet 60:1265-75. 1997..These issues are pervasive in all areas of human research, and they are especially salient in human behavioral genetics... - Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subtype and severityI D Waldman
Department of Psychology, Emory University, Atlanta, Georgia, USA
Am J Hum Genet 63:1767-76. 1998..Our results replicate and extend previous findings of the association between the DAT1 gene and childhood ADHD. This represents one of the first replicated relations of a candidate gene and a psychiatric disorder in children... - Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control studyQ Yang
Division of Birth Defects and Developmental Disabilities and the Office of Genetics and Disease Prevention, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Genet Med 1:80-8. 1999..This is the first epidemiological study to categorize cases of trisomy 21 by parent of origin and timing of the meiotic error before assessing possible risk factors... - Women with a reduced ovarian complement may have an increased risk for a child with Down syndromeS B Freeman
Department of Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Am J Hum Genet 66:1680-3. 2000..In addition, it suggests that women with a reduced ovarian complement should be offered prenatal diagnosis... - Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21A S Brown
Department of Genetics, Emory University School of Medicine, 1462 Clifton Road North East, Atlanta, GA 30322, USA
Hum Mol Genet 9:515-23. 2000..Further studies are required to confirm these results, to determine the importance of genetic and environmental factors that regulate recombination and to determine their impact on non-disjunction... - Examination of reproductive aging milestones among women who carry the FMR1 premutationE G Allen
Department of Human Genetics, Emory University, 615 Michael Street, Atlanta, GA 30322, USA
Hum Reprod 22:2142-52. 2007..We hypothesize that the premutation-associated ovarian insufficiency is due to a diminished oocyte pool and examined reproductive aging milestones by repeat size group to determine if the same non-linear association is observed... - Population-based study of congenital heart defects in Down syndromeS B Freeman
Department of Genetics, Emory University, Atlanta, Georgia 30322, USA
Am J Med Genet 80:213-7. 1998..This report is unique in that it contains the largest number of trisomy 21 infants ascertained in a population-based study where modern techniques for diagnosing cardiac abnormalities predominate... - Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test batteryE G Allen
Emory University, Department of Human Genetics, 615 Michael Street, Suite 301, Whitehead Research Building, Atlanta, Georgia 30322, USA
J Med Genet 45:290-7. 2008..The primary features of FXTAS are late-onset intention tremor and gait ataxia. Associated features include parkinsonism, neuropsychological dysfunction, autonomic dysfunction and peripheral neuropathy... - Neurodevelopmental outcomes in children with Down syndrome and congenital heart defectsJeannie Visootsak
Department of Human Genetics, Emory University, Atlanta, Georgia, USA
Am J Med Genet A 155:2688-91. 2011..Since this is the first study to examine the early developmental outcomes of children with DS + AVSD, the findings may be useful for clinicians in providing anticipatory guidance... - Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiencyJohn J De Caro
Department of Human Genetics, School of Medicine, Emory University, Atlanta, Georgia 30322, USA
Ann N Y Acad Sci 1135:99-111. 2008..We discuss the expected reproductive phenotype among FMR1 premutation carriers during adolescence, the associated health considerations based on our current understanding of FXPOI, and the directions for future studies... - CYP17 genotype predicts serum hormone levels among pre-menopausal womenChanley M Small
Department of Epidemiology, Emory University, Atlanta, Georgia and American Cancer Society, Atlanta, Georgia 30322, USA
Hum Reprod 20:2162-7. 2005..There is evidence that a common polymorphism in CYP17 (T27C) is associated with estrogen levels, making it a potential marker of disease risk... - Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesSarah L Nolin
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Am J Hum Genet 72:454-64. 2003..9% for 55-59, and 80% for 60-65 repeats). These studies should allow improved risk assessments for genetic counseling of women with premutation or intermediate-size alleles... - Co-occurring diagnoses among FMR1 premutation allele carriersJ E Hunter
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Clin Genet 77:374-81. 2010..Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions... - Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary studyJ Rohr
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Whitehead Building, Atlanta, GA 30322, USA
Hum Reprod 23:1220-5. 2008..As anti-Mullerian hormone (AMH) has been shown as an excellent marker of ovarian decline, we examined AMH levels among premutation carriers to characterize their ovarian function... - Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size rangeAmy K Sullivan
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
Am J Hum Genet 70:1532-44. 2002..This difference that depends on repeat size suggests either a different mutational mechanism of instability or an increase in selection against sperm as their repeat size increases... - Multipoint estimation of genetic maps for human trisomies with one parent or other partial dataE Feingold
Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, 15261, USA
Am J Hum Genet 66:958-68. 2000..We wrote a FORTRAN program to maximize our multipoint likelihoods and used it in simulation studies to demonstrate the biases in the previous methods... - Women's attitudes toward testing for fragile X carrier status: a qualitative analysisAimee Anido
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
J Genet Couns 14:295-306. 2005..There was evidence that non-carrier women from the general population would be wholly unprepared for positive carrier results. These findings have significant implications for genetic counseling as well as for population screening... - Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome ProjectsS B Freeman
Department of Human Genetics, Emory University, Atlanta, GA 30033, USA
Clin Genet 75:180-4. 2009.... - Germline mutation of microRNA-125a is associated with breast cancerW Li
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
J Med Genet 46:358-60. 2009..Here we show that a germline mutation in mature miR-125a is highly associated with breast cancer tumorigenesis, suggesting that miR-125a is likely to function as a tumour suppressor gene in human cancer... - Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunctionSue Ann Berend
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 72:488-95. 2003..Additionally, we have demonstrated that events that occur in meiosis I can influence events, such as chromatid segregation in meiosis II, many decades later... - Maternal meiosis II nondisjunction in trisomy 21 is associated with maternal low socioeconomic statusRoberta E Christianson
Child Health and Development Studies, Berkeley, California, USA
Genet Med 6:487-94. 2004..50; 95% confidence interval = 1.8-49.8). CONCLUSION: Maternal lifetime exposure to poor socioeconomic environment is a risk factor for a trisomy 21, particularly if nondisjunction leads to a maternal meiosis II... - A trisomic transmission disequilibrium testZhiying Xu
Department of Biostatistics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA
Genet Epidemiol 26:125-31. 2004..We demonstrate the method on a dataset of parent-child trios in which the child has Down syndrome... - CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndromeCheryl L Maslen
Department of Medicine, Division of Endocrinology, Oregon Health and Science University, Portland 97239, USA
Am J Med Genet A 140:2501-5. 2006 - The FMR1 premutation and reproductionMichael D Wittenberger
Intramural Research Program, Section on Women s Health Research, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1103, USA
Fertil Steril 87:456-65. 2007..It is now recognized that this was incorrect, specifically with respect to female reproduction...
Research Grants
- Phenotype consequence of high repeat FMR1 allelesStephanie Sherman; Fiscal Year: 2002..abstract_text> ..