Vandana Shashi

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. pmc De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
    Vandana Shashi
    Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA Electronic address
    Am J Hum Genet 99:991-999. 2016
  2. pmc Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome
    R Das Chakraborty
    Department of Radiation Oncology, Duke University Medical Center, Durham, NC 27710, USA
    Transl Psychiatry 2:e105. 2012
  3. pmc Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms
    Vandana Shashi
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Eur J Hum Genet 20:1051-7. 2012
  4. doi request reprint Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions
    V Shashi
    Pediatric Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Intellect Disabil Res 56:865-78. 2012
  5. pmc Altered development of the dorsolateral prefrontal cortex in chromosome 22q11.2 deletion syndrome: an in vivo proton spectroscopy study
    Vandana Shashi
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Biol Psychiatry 72:684-91. 2012
  6. pmc Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Psychiatry Res 181:1-8. 2010
  7. pmc COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome
    Vandana Shashi
    Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carolina 27710, USA
    Psychiatry Res 178:433-6. 2010
  8. pmc Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling
    Vandana Shashi
    Department of Pediatrics, Division of Medical Genetics, Duke University Health Sciences, Durham, NC, USA
    J Genet Couns 19:535-44. 2010
  9. ncbi request reprint Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Neuroimage 21:1399-406. 2004
  10. pmc Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome
    Waverly Harrell
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States
    Res Dev Disabil 34:2606-13. 2013

Collaborators

Detail Information

Publications27

  1. pmc De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
    Vandana Shashi
    Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA Electronic address
    Am J Hum Genet 99:991-999. 2016
    ..In conclusion, de novo truncating variants in ASXL2 underlie a neurodevelopmental syndrome with a clinically recognizable phenotype. This report expands the germline disorders that are linked to the ASXL genes...
  2. pmc Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome
    R Das Chakraborty
    Department of Radiation Oncology, Duke University Medical Center, Durham, NC 27710, USA
    Transl Psychiatry 2:e105. 2012
    ..Further studies are now needed to test the usefulness of DGCR6 and DGCR6L expression and alterations in the epigenome at these loci in predicting childhood anxiety and associated adult-onset pathologies in 22q11DS subjects...
  3. pmc Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms
    Vandana Shashi
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Eur J Hum Genet 20:1051-7. 2012
    ..These findings indicate that alterations in the CC volume in children with 22q11DS are associated with cognition and specific genotypes in the 22q11.2 interval...
  4. doi request reprint Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions
    V Shashi
    Pediatric Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Intellect Disabil Res 56:865-78. 2012
    ..Although distinctive neuropsychological impairments have been delineated in children with chromosome 22q11 deletion syndrome (22q11DS), social skills and social cognition remain less well-characterised...
  5. pmc Altered development of the dorsolateral prefrontal cortex in chromosome 22q11.2 deletion syndrome: an in vivo proton spectroscopy study
    Vandana Shashi
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Biol Psychiatry 72:684-91. 2012
    ..However, studies have not characterized any possible metabolite alterations within the DLPFC of children with 22q11DS and their correlations with the psychological findings...
  6. pmc Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Psychiatry Res 181:1-8. 2010
    ..The correlation of these volumetric reductions with poor neurocognition indicates that these brain regions may mediate higher neurocognitive functions implicated in schizophrenia...
  7. pmc COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome
    Vandana Shashi
    Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carolina 27710, USA
    Psychiatry Res 178:433-6. 2010
    ..The Val allele was associated with poor IQ, processing speed, executive function and a higher frequency of anxiety disorders, underscoring the importance of the COMT gene in the childhood psychopathology in 22q11DS...
  8. pmc Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling
    Vandana Shashi
    Department of Pediatrics, Division of Medical Genetics, Duke University Health Sciences, Durham, NC, USA
    J Genet Couns 19:535-44. 2010
    ..As such, genetic counseling for families with 22q11DS may include consideration of family resources and inclusion of other health professionals, such as social workers, to explore with the family available social supports and resources...
  9. ncbi request reprint Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Neuroimage 21:1399-406. 2004
    ..Further longitudinal studies on these children will help determine which of these structural abnormalities is/are pertinent to the development of psychosis...
  10. pmc Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome
    Waverly Harrell
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States
    Res Dev Disabil 34:2606-13. 2013
    ..Our preliminary analyses indicate that gains in cognition occur with the intervention. Further study in a larger randomized controlled trial would enable assessment of efficacy of this novel intervention...
  11. doi request reprint Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
    Allyn McConkie Rosell
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103757, Durham, NC, 27710, USA
    J Genet Couns 25:1019-31. 2016
    ..Our findings highlight a need for continued communication with families as we navigate the new landscape of genomic sequencing. ..
  12. doi request reprint The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome
    Aravindhan Veerapandiyan
    Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carlolina 27710, USA
    Laryngoscope 121:732-7. 2011
    ..To report our experience with cephalometry in evaluating velopharyngeal dysfunction (VPD) in velocardiofacial syndrome (VCFS) and its utility in assessing the role of cervical spine abnormalities in VPD, prior to surgical correction of VPD...
  13. pmc Applicability of the nonverbal learning disability paradigm for children with 22q11.2 deletion syndrome
    Kelly Schoch
    1Duke University Health Systems, Durham, NC, USA
    J Learn Disabil 47:153-66. 2014
    ..All three groups showed a heightened risk for psychiatric illness, highlighting the importance of careful mental health monitoring for all children with 22qllDS. ..
  14. doi request reprint Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation
    Aravindhan Veerapandiyan
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27712, USA
    Eur J Med Genet 54:63-6. 2011
    ..2 deletion syndrome and a BRCA2 mutation. Further cases with a similar presentation should be reported and studies should be directed to identify the possible mechanisms involved...
  15. doi request reprint Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge
    Aravindhan Veerapandiyan
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet A 155:2186-95. 2011
    ..Therefore, a high index of suspicion is needed to recognize 22q11DS in African-American individuals...
  16. ncbi request reprint Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome
    Waverly Harrell
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA
    J Child Neurol . 2016
    ..Understanding differences in brain function will provide a foundation for future interventions to address the wide range of neurodevelopmental deficits observed in 22q11 deletion syndrome...
  17. doi request reprint The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
    Vandana Shashi
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA
    Genet Med 16:176-82. 2014
    ....
  18. pmc Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians
    Dana Faux
    Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA
    J Genet Couns 21:835-44. 2012
    ..Our results demonstrate that genetics professionals should help prepare caregivers for conversations with their children about the diagnosis of 22q11DS, monitor the understanding of the diagnosis over time, and provide ongoing support...
  19. pmc A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome
    Stephen R Hooper
    Department of Psychiatry and the Carolina Institute for Developmental Disabilities, University of North Carolina School of Medicine, CB 7255, Chapel Hill, NC 27599 7255, USA
    Res Dev Disabil 34:1758-69. 2013
    ..These findings begin to elucidate the trajectory of changes in psychopathology in children with 22q11DS in the years leading up to the onset of major psychiatric illnesses...
  20. doi request reprint Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome
    Rebecca Okashah
    Department of Pediatrics, Children s Hospital of San Antonio, 333 North Santa Rosa Street, San Antonio, TX, 78207, USA
    J Genet Couns 24:752-9. 2015
    ..Genetic counselors can use the results of this study to develop anticipatory guidance for parents of children with 22q11DS in talking with their unaffected children about the condition. ..
  21. doi request reprint Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project
    Sarah J Hart
    Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA
    J Genet Couns 25:6-17. 2016
    ..2DS and to provide improved information, support and resources to affected families. ..
  22. pmc A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
    Kelly Schoch
    Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA
    Am J Hum Genet . 2017
    ..Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1...
  23. pmc Quinidine in the treatment of KCNT1-positive epilepsies
    Mohamad A Mikati
    Division of Pediatric Neurology, Department of Pediatrics and Department of Neurobiology, Duke University School of Medicine, Durham, NC
    Ann Neurol 78:995-9. 2015
    ..Ann Neurol 2015;78:995-999. ..
  24. pmc Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children s Hospital, Stanford University, Stanford, California, USA
    Genet Med 16:751-8. 2014
    ..To define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway dysfunction, we studied a series of eight patients with deficiency of N-glycanase 1...
  25. pmc Clinical application of exome sequencing in undiagnosed genetic conditions
    Anna C Need
    Center for Human Genome Variation, Duke University School of Medicine, Box 91009, Durham, NC 27708, USA
    J Med Genet 49:353-61. 2012
    ....
  26. ncbi request reprint Vasomotor instability in neonates with chromosome 22q11 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Am J Med Genet A 121:231-4. 2003
    ..This could have implications for the surgical management of patients with 22q11DS. Further studies on this topic would establish or refute the association between 22q11DS and dysautonomia...
  27. ncbi request reprint Vincristine-induced neuropathy as the initial presentation of charcot-marie-tooth disease in acute lymphoblastic leukemia: a Pediatric Oncology Group study
    Allen R Chauvenet
    Department of Pediatrics, Wake Forest University, Winston Salem, North Carolina 27157 1081, USA
    J Pediatr Hematol Oncol 25:316-20. 2003
    ..The goal was to provide preliminary information about patients with undiagnosed CMT who develop ALL...