J. Visootsak

Most-cited papers

Advances in the Treatment of Fragile X Syndrome
R. Hagerman, E. Berry-Kravis, W. Kaufmann, M. Ono +9 more
2009Pediatrics561 citations Open access
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Klinefelter syndrome and other sex chromosomal aneuploidies
J. Visootsak, J. M. Jr Graham
2006Orphanet Journal of Rare Diseases313 citations Open access
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Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials
E. Berry-Kravis, Vincent Des Portes, R. Hagerman, S. Jacquemont +10 more
2016Science Translational Medicine253 citations
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Fragile X Syndrome: A Review of Associated Medical Problems
S. Kidd, A. Lachiewicz, D. Barbouth, R. Blitz +4 more
2014Pediatrics218 citations Open access
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Arbaclofen in fragile X syndrome: results of phase 3 trials
E. Berry-Kravis, R. Hagerman, J. Visootsak, D. Budimirovic +7 more
2017Journal of Neurodevelopmental Disorders170 citations Open access
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A new look at XXYY syndrome: Medical and psychological features
N. Tartaglia, S. Davis, Alison Hench, Sheela Nimishakavi +8 more
2008American Journal of Medical Genetics. Part A149 citations Open access
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Fragile X syndrome
Kathryn B. Garber, J. Visootsak, Stephen T. Warren
2008European Journal of Human Genetics146 citations Open access
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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures
L. K. Myrick, Pan-Yue Deng, H. Hashimoto, Young Mi Oh +9 more
2015Proceedings of the National Academy of Sciences of the United States of America131 citations Open access
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Kilnefelter Syndrome and Its Variants: An Update and Review for the Primary Pediatrician
J. Visootsak, M. Aylstock, J. Graham
2001La Clinica pediatrica110 citations
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Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study
Xavier Liogier d'Ardhuy, J. Edgin, C. Bouis, S. de Sola +10 more
2015Frontiers in Behavioral Neuroscience97 citations Open access
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Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY, XXXY
J. Visootsak, J. Graham
2009Developmental Disabilities Research Reviews88 citations Open access
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Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY
J. Visootsak, Beth A. Rosner, E. Dykens, N. Tartaglia +1 more
2007American Journal of Medical Genetics. Part A88 citations
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Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician
Christina Chen, J. Visootsak, Shelley K. Dills, J. Graham
2007La Clinica pediatrica71 citations
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Behavioral features of CHARGE syndrome (Hall–Hittner syndrome) comparison with Down syndrome, Prader–Willi syndrome, and Williams syndrome
J. Graham, Beth A. Rosner, E. Dykens, J. Visootsak
2005American Journal of Medical Genetics. Part A65 citations Open access
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Fragile X Syndrome: An Update and Review for the Primary Pediatrician
J. Visootsak, S. Warren, A. Anido, J. Graham
2005La Clinica pediatrica62 citations
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Neuropsychiatric and behavioral aspects of trisomy 21
J. Visootsak, S. Sherman
2007Current Psychiatry Reports57 citations
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A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome.
E. Berry-Kravis, J. Horrigan, N. Tartaglia, R. Hagerman +19 more
2017Pediatric Neurology56 citations Open access
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22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician
J. Havens, J. Visootsak, M. Phelan, J. Graham
2004La Clinica pediatrica54 citations
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Cognitive Aspects of Fragile X syndrome
Lillie Huddleston, J. Visootsak, S. Sherman
2014Wiley Interdisciplinary Reviews: Cognitive Science51 citations Open access
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Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
Reid S. Alisch, Tao Wang, P. Chopra, J. Visootsak +2 more
2013BMC Medical Genetics49 citations Open access
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Sleep Profiles in Children with Down Syndrome
J. Bassell, Han C. Phan, R. Leu, Rebecca Kronk +1 more
2015American Journal of Medical Genetics. Part A48 citations Open access
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Effect of congenital heart defects on language development in toddlers with Down syndrome
J. Visootsak, B. Hess, R. Bakeman, L. Adamson
2012Journal of Intellectual Disability Research47 citations Open access
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Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date
Sarah J. Hart, J. Visootsak, P. Tamburri, P. Phuong +7 more
2017American Journal of Medical Genetics. Part A46 citations
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Neurodevelopmental Outcomes in Children with Down Syndrome and Congenital Heart Defects
J. Visootsak, W. Mahle, Paul M. Kirshbom, Lillie Huddleston +3 more
2011American Journal of Medical Genetics. Part A44 citations Open access
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A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome
C. Goeldner, P. Kishnani, B. Skotko, J. Casero +45 more
2022Journal of Neurodevelopmental Disorders43 citations Open access
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Timing of Diagnosis of 47,XXY and 48,XXYY: A Survey of Parent Experiences
J. Visootsak, N. Ayari, S. Howell, Joash T. Lazarus +1 more
2013American Journal of Medical Genetics. Part A42 citations Open access
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Turner Syndrome: An Update and Review for the Primary Pediatrician
Brandy H Doswell, J. Visootsak, April N. Brady, J. Graham
2006La Clinica pediatrica41 citations
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A Case of False Negative NIPT for Down Syndrome-Lessons Learned
Meagan Smith, Kimberly Lewis, Alexandrea Holmes, J. Visootsak
2014Case Reports in Genetics33 citations Open access
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Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
A. Lee, P. Ventola, D. Budimirovic, E. Berry-Kravis +1 more
2018Brain Science32 citations Open access
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A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs)
J. Grieco, B. Romero, E. Flood, R. Cabo +1 more
2018Patient31 citations Open access
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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, Ravi S. Muddashetty, Bart R. Anderson, Marius F Ifrim +3 more
2015Proceedings of the National Academy of Sciences of the United States of America30 citations Open access
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Neurodevelopmental outcomes in children with Down syndrome and infantile spasms
Sarah Tapp, Tovi Anderson, J. Visootsak
2015Journal of Pediatric Neurology online30 citations Open access
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Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
J. Visootsak, Beth A. Rosner, E. Dykens, C. Schwartz +4 more
2004Jornal de Pediatria29 citations
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Influence of Congenital Heart Defect on Psychosocial and Neurodevelopmental Outcomes in Children with Down Syndrome
J. Visootsak, Lillie Huddleston, Allison Buterbaugh, A. Perkins +2 more
2015Cardiology in the Young28 citations Open access
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Brain magnetic resonance imaging findings in 49,XXXXY syndrome.
Trevor L. Hoffman, A. Vossough, C. Ficicioglu, J. Visootsak
2008Pediatric Neurology26 citations Open access
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Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene
John M. Graham, J. Visootsak, E. Dykens, Lillie Huddleston +10 more
2008American Journal of Medical Genetics. Part A24 citations Open access
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Noninvasive screening tools for Down syndrome: a review
Meagan Smith, J. Visootsak
2013International Journal of Women's Health18 citations Open access
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Diagnosis of Fragile X Syndrome: A Qualitative Study of African American Families
J. Visootsak, Krista H. Charen, Julia Rohr, E. Allen +1 more
2011Journal of Genetic Counseling16 citations Open access
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Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome
Victoria Reines, Krista H. Charen, Tracie C. Rosser, Arri Eisen +2 more
2017Journal of Genetic Counseling14 citations Open access
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Object-related generativity in children with Down syndrome.
D. Fidler, E. Will, L. Daunhauer, Brianne Gerlach-McDonald +1 more
2014Research in Developmental Disabilities14 citations
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Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome
J. Visootsak, H. Hipp, H. Clark, E. Berry-Kravis +2 more
2014Jornal de Pediatria13 citations Open access
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Importance of a specialty clinic for individuals with fragile X syndrome
J. Visootsak, Sharon A. Kidd, Tovi Anderson, Julia L. Bassell +2 more
2016American Journal of Medical Genetics. Part A12 citations
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Developmental outcomes of Down syndrome and Dandy-Walker malformation
Kaitlin M. Love, Lillie Huddleston, Patricia N. Olney, D. Wrubel +1 more
2011Journal of Pediatric Neurology online12 citations Open access
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Improving Health Education for Women Who Carry an FMR1 Premutation
Whitney F. Espinel, Krista H. Charen, Lillie Huddleston, J. Visootsak +1 more
2015Journal of Genetic Counseling11 citations Open access
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A Retrospective, Longitudinal, Claims-Based Comparison of Concomitant Diagnoses Between Individuals with and Without Down Syndrome.
A. Kong, D. Hurley, K. Evans, D. Brixner +2 more
2017Journal of Managed Care & Specialty Pharmacy10 citations Open access
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Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6‐month longitudinal study
G. Spiridigliozzi, C. Goeldner, J. Edgin, Sarah J. Hart +7 more
2018American Journal of Medical Genetics. Part A9 citations
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A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome
C. Goeldner, P. Kishnani, B. Skotko, J. Casero +46 more
2022Journal of Neurodevelopmental Disorders8 citations Open access
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The STARS Phase 2 Study
L. Bird, Cesar Ochoa-Lubinoff, W. Tan, G. Heimer +8 more
2020Neurology8 citations Open access
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Implications of delayed diagnosis of infantile spasm in a child with Down syndrome
Allison Buterbaugh, J. Visootsak
2014Journal of Pediatric Neurology online8 citations
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Behavioral Phenotypes of Males with Sex Chromosome Aneuploidy
N. Tartaglia, Ann Reynolds, J. Visootsak, S. Gronli +2 more
20058 citations
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