PubMed search for Dr. Jeannie Visootsak

Areas of Specialization/Research Interests:
Genotype-phenotype correlations in Down syndrome, Fragile X, sex chromosomal conditions, X-linked mental retardation
Management of genetic mental retardation syndromes
Developmental disabilities and access to care

Education:
2006-2008 M.Sc., Clinical Research, Emory Univeristy, Atlanta, GA
2000-2003 Fellowship in Developmental/Behavioral Pediatrics, King Drew Medical Center and Clinical Research in Genetics, Cedars Sinai Medical Center/UCLA
1997-2000 Residency in Pediatrics, King Drew Medical Center, Los Angeles, CA
1997 M.D., UCLA School of Medicine, Los Angeles, CA
1992 B.S., Chemistry, University of Southern California, Los Angeles, CA

Professional Memberships and Activities:
American Academy of Pediatrics
Society for Developmental and Behavioral Pediatrics
Society for the Study of Behavioral Phenotypes

Board Certifications:
Pediatrics
Developmental and Behavioral Pediatrics

Research Description:
I am a Developmental-Behavioral Pediatrician and Medical Director of the Down Syndrome and Fragile X Syndrome clinics. My area of expertise is in neurodevelopmental disorders, particularly children with genetic syndromes.

My research interests and clinical specialization include management of individuals with Down Syndrome, Fragile X Syndrome, sex chromosomal aneuploidies, and X-linked mental retardation conditions.

Selected Publications:

Visootsak J, Aylstock M, Graham JM, Jr.: Klinefelter syndrome and its variants: an update and review for the primary pediatrician. Clinical Pediatrics, 40:639-651,2001.

Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White S, Szeftel R, Graham JM, Jr.: Clinical and behavioral features of Borjeson-Forssman-Lehmann syndrome patients with mutations in PHF6. Journal of Pediatrics, 145:819-825,2004.

Wang R, Visootsak J, Danielpour M, Graham JM, Jr.: Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype? Journal of Pediatrics, 43(1):371-382, 2005.

Visootsak J. Fragile X syndrome. In “Developmental Disabilities: Delivery of Medical Care for Children and Adults”,2ed. 2005.

Visootsak J, Warren ST, Anido A, Graham JM.  Fragile X syndrome:  an update and review for the primary pediatricians.  Clin Pediatr.  44(5):371-382, 2005.

Visootsak J, Sherman S.  Neuropsychiatric and behavioral aspects of trisomy 21.  Curr Psychiatry Rep.  9(2):135-140, 2007.

Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM.  Behavioral phenotype of sex chromosome aneuploidies:  48,XXYY, 48,XXXY and 49,XXXXY.  Am J Med Genet. 143(11):1198-1203, 2007.