Jeannie Visootsak

Summary

Affiliation: Emory University
Country: USA

Publications

  1. pmc Climbing the branches of a family tree: diagnosis of fragile X syndrome
    Jeannie Visootsak
    Department of Human Genetics, Emory University, Atlanta, GA Electronic address
    J Pediatr 164:1292-5. 2014
  2. pmc Noninvasive screening tools for Down syndrome: a review
    Meagan Smith
    Emory University, Department of Human Genetics, Atlanta, GA, USA
    Int J Womens Health 5:125-31. 2013
  3. pmc Effect of congenital heart defects on language development in toddlers with Down syndrome
    J Visootsak
    Human Genetics and Pediatrics, Emory University School of Medicine, Decatur, Georgia 30033, USA
    J Intellect Disabil Res 57:887-92. 2013
  4. pmc Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences
    Jeannie Visootsak
    Department of Human Genetics, Emory University, Atlanta, Georgia 30033, USA
    Am J Med Genet A 161:268-72. 2013
  5. pmc Diagnosis of fragile X syndrome: a qualitative study of African American families
    Jeannie Visootsak
    Department of Human Genetics, Emory University, Atlanta, GA, USA
    J Genet Couns 21:845-53. 2012
  6. pmc Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects
    Jeannie Visootsak
    Department of Human Genetics, Emory University, Atlanta, Georgia, USA
    Am J Med Genet A 155:2688-91. 2011
  7. pmc Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY
    Jeannie Visootsak
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA
    Dev Disabil Res Rev 15:328-32. 2009
  8. ncbi request reprint Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY
    Jeannie Visootsak
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 143:1198-203. 2007
  9. ncbi request reprint Fragile X syndrome: an update and review for the primary pediatrician
    Jeannie Visootsak
    Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA
    Clin Pediatr (Phila) 44:371-81. 2005
  10. pmc Klinefelter syndrome and other sex chromosomal aneuploidies
    Jeannie Visootsak
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30033, USA
    Orphanet J Rare Dis 1:42. 2006

Collaborators

Detail Information

Publications21

  1. pmc Climbing the branches of a family tree: diagnosis of fragile X syndrome
    Jeannie Visootsak
    Department of Human Genetics, Emory University, Atlanta, GA Electronic address
    J Pediatr 164:1292-5. 2014
    ..To determine the average number of family members diagnosed with a Fragile X Mental Retardation-1 (FMR1) mutation after a proband receives the initial diagnosis of fragile X syndrome (FXS)...
  2. pmc Noninvasive screening tools for Down syndrome: a review
    Meagan Smith
    Emory University, Department of Human Genetics, Atlanta, GA, USA
    Int J Womens Health 5:125-31. 2013
    ..By understanding fully each technology and the possible alternatives, the physician will be able to provide their patients with all the information necessary to make an informed decision regarding their medical management...
  3. pmc Effect of congenital heart defects on language development in toddlers with Down syndrome
    J Visootsak
    Human Genetics and Pediatrics, Emory University School of Medicine, Decatur, Georgia 30033, USA
    J Intellect Disabil Res 57:887-92. 2013
    ..Herein, we explore the impact of CHD on language development in children with DS...
  4. pmc Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences
    Jeannie Visootsak
    Department of Human Genetics, Emory University, Atlanta, Georgia 30033, USA
    Am J Med Genet A 161:268-72. 2013
    ....
  5. pmc Diagnosis of fragile X syndrome: a qualitative study of African American families
    Jeannie Visootsak
    Department of Human Genetics, Emory University, Atlanta, GA, USA
    J Genet Couns 21:845-53. 2012
    ....
  6. pmc Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects
    Jeannie 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 +‚ÄČAVSD, the findings may be useful for clinicians in providing anticipatory guidance...
  7. pmc Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY
    Jeannie Visootsak
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA
    Dev Disabil Res Rev 15:328-32. 2009
    ..g., 48,XXYY and 48,XXXY) and an additional Y (e.g., 47,XYY) is less common, but it is important to understand their social functioning as it provides insight into treatment implications...
  8. ncbi request reprint Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY
    Jeannie Visootsak
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 143:1198-203. 2007
    ..Both groups display interests in helping others, but have a low tolerance for being rejected or teased. Specific recommendations and interventional strategies are provided for individuals with 48,XXYY, 48,XXXY, and 49,XXXXY...
  9. ncbi request reprint Fragile X syndrome: an update and review for the primary pediatrician
    Jeannie Visootsak
    Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA
    Clin Pediatr (Phila) 44:371-81. 2005
    ..Here the current state of knowledge is reviewed and a framework is provided for early recognition and diagnosis, along with counseling and treatment implications for the children and family members...
  10. pmc Klinefelter syndrome and other sex chromosomal aneuploidies
    Jeannie Visootsak
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30033, USA
    Orphanet J Rare Dis 1:42. 2006
    ....
  11. ncbi request reprint Neuropsychiatric and behavioral aspects of trisomy 21
    Jeannie Visootsak
    Curr Psychiatry Rep 9:135-40. 2007
    ..Understanding the age-related changes in cognitive functioning and behavioral profiles in individuals with DS provides insight into clinical and treatment implications...
  12. pmc Improving Health Education for Women Who Carry an FMR1 Premutation
    Whitney Espinel
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
    J Genet Couns 25:228-38. 2016
    ..Targeted educational materials will aid in information sharing and awareness for women who carry the FMR1 premutation and their physicians. ..
  13. pmc Fragile X syndrome
    Kathryn B Garber
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    Eur J Hum Genet 16:666-72. 2008
    ..The resulting over abundance of certain proteins results in reduced synaptic strength due to AMPA receptor trafficking abnormalities that lead, at least in part, to the fragile X phenotype...
  14. pmc Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome
    Jeannie Visootsak
    1Department of Human Genetics, Emory University, Atlanta, Georgia, United States of America
    Cardiol Young 26:250-6. 2016
    ..To evaluate the family psycho-social outcomes of children with Down syndrome and atrioventricular septal defect, and examine the impact of these variables on the child's neurodevelopmental outcome...
  15. ncbi request reprint Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6
    Jeannie Visootsak
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    J Pediatr 145:819-25. 2004
    ..To describe clinical and behavioral features of 10 men from 2 families with Borjeson-Forssman-Lehmann syndrome (BFLS) and missense mutations in the PHF6 zinc-finger transcription factor gene...
  16. pmc Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
    Reid S Alisch
    Departments of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    BMC Med Genet 14:18. 2013
    ..Although a dramatic increase in DNA methylation of the FMR1 full mutation allele is well documented, the extent to which these changes affect DNA methylation throughout the rest of the genome has gone unexplored...
  17. ncbi request reprint Prader-Willi syndrome: an update and review for the primary pediatrician
    Christina Chen
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Clin Pediatr (Phila) 46:580-91. 2007
    ..They can also serve as a valuable source of support and advocacy for the family. This article reviews the current state of knowledge about Prader-Willi syndrome and discusses up-to-date understanding of the management of this condition...
  18. ncbi request reprint Turner syndrome: an update and review for the primary pediatrician
    Brandy H Doswell
    Emory University School of Medicine, Atlanta, GA, USA
    Clin Pediatr (Phila) 45:301-13. 2006
    ....
  19. pmc A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR
    Joshua A Suhl
    Department of Human Genetics, Emory University, Atlanta, GA 30322
    Proc Natl Acad Sci U S A 112:E6553-61. 2015
    ..These data suggest that the disrupted interaction of HuR impairs activity-dependent translation of FMRP, which may hinder synaptic plasticity in a clinically significant fashion. ..