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Elizabeth Berry-Kravis to Child

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This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Child.
Elizabeth Berry-Kravis
Connection Strength
3.523
Child
  1. Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C. Pediatr Neurol. 2023 07; 144:99-103.
    View in: PubMed
    Score: 0.162
  2. A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). J Neurodev Disord. 2022 11 25; 14(1):56.
    View in: PubMed
    Score: 0.158
  3. Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers. Am J Intellect Dev Disabil. 2020 11 01; 125(6):449-464.
    View in: PubMed
    Score: 0.137
  4. A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome. Pediatr Neurol. 2020 09; 110:30-41.
    View in: PubMed
    Score: 0.133
  5. Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-?-cyclodextrin injection. Paediatr Anaesth. 2020 07; 30(7):766-772.
    View in: PubMed
    Score: 0.132
  6. Toilet Training in Fragile X Syndrome. J Dev Behav Pediatr. 2019 12; 40(9):751-761.
    View in: PubMed
    Score: 0.128
  7. Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics. 2017 Jun; 139(Suppl 3):S194-S206.
    View in: PubMed
    Score: 0.108
  8. Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future. Pediatr Neurol. 2016 12; 65:1-13.
    View in: PubMed
    Score: 0.102
  9. Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile X syndrome. Am J Intellect Dev Disabil. 2014 Jan; 119(1):1-16.
    View in: PubMed
    Score: 0.085
  10. Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr. 2013 Sep; 34(7):508-22.
    View in: PubMed
    Score: 0.083
  11. Development of an expressive language sampling procedure in fragile X syndrome: a pilot study. J Dev Behav Pediatr. 2013 May; 34(4):245-51.
    View in: PubMed
    Score: 0.081
  12. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
    View in: PubMed
    Score: 0.080
  13. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
    View in: PubMed
    Score: 0.079
  14. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med. 2012 Sep 19; 4(152):152ra127.
    View in: PubMed
    Score: 0.078
  15. Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey. J Dev Behav Pediatr. 2012 Jan; 33(1):62-9.
    View in: PubMed
    Score: 0.074
  16. Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am J Intellect Dev Disabil. 2010 Nov; 115(6):461-72.
    View in: PubMed
    Score: 0.068
  17. Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr. 2008 Aug; 29(4):293-302.
    View in: PubMed
    Score: 0.058
  18. Characterization of potential outcome measures for future clinical trials in fragile X syndrome. J Autism Dev Disord. 2008 Oct; 38(9):1751-7.
    View in: PubMed
    Score: 0.057
  19. Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy. J Am Diet Assoc. 2005 May; 105(5):718-25.
    View in: PubMed
    Score: 0.047
  20. Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. Am J Respir Crit Care Med. 2004 Jul 01; 170(1):16-21.
    View in: PubMed
    Score: 0.043
  21. Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. Mol Genet Metab. 2023 11; 140(3):107656.
    View in: PubMed
    Score: 0.041
  22. The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities. J Appl Res Intellect Disabil. 2023 Mar; 36(2):394-404.
    View in: PubMed
    Score: 0.040
  23. Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry. 2023 05; 62(5):582-592.e2.
    View in: PubMed
    Score: 0.040
  24. FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers. Am J Intellect Dev Disabil. 2023 01 01; 128(1):1-20.
    View in: PubMed
    Score: 0.040
  25. Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability. Neurology. 2023 02 21; 100(8):e778-e789.
    View in: PubMed
    Score: 0.039
  26. The association between expressive language skills and adaptive behavior in individuals with Down syndrome. Sci Rep. 2022 11 21; 12(1):20014.
    View in: PubMed
    Score: 0.039
  27. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8.
    View in: PubMed
    Score: 0.039
  28. Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes (Basel). 2022 09 16; 13(9).
    View in: PubMed
    Score: 0.039
  29. Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome. J Neurosci Methods. 2022 04 01; 371:109501.
    View in: PubMed
    Score: 0.037
  30. Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome. Contemp Clin Trials. 2022 03; 114:106704.
    View in: PubMed
    Score: 0.037
  31. Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort. Am J Med Genet A. 2022 04; 188(4):1029-1039.
    View in: PubMed
    Score: 0.037
  32. Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial. Pediatr Neurol. 2022 02; 127:32-38.
    View in: PubMed
    Score: 0.037
  33. Carnitine levels and the ketogenic diet. Epilepsia. 2001 Nov; 42(11):1445-51.
    View in: PubMed
    Score: 0.037
  34. Normative database of postural sway measures using inertial sensors in typically developing children and young adults. Gait Posture. 2021 10; 90:112-119.
    View in: PubMed
    Score: 0.036
  35. Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome. Psychoneuroendocrinology. 2021 07; 129:105266.
    View in: PubMed
    Score: 0.035
  36. Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling. J Neurodev Disord. 2021 04 08; 13(1):13.
    View in: PubMed
    Score: 0.035
  37. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480.
    View in: PubMed
    Score: 0.034
  38. Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord. 2020 Sep; 50(9):3276-3295.
    View in: PubMed
    Score: 0.034
  39. Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults. Gait Posture. 2020 07; 80:206-213.
    View in: PubMed
    Score: 0.033
  40. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396.
    View in: PubMed
    Score: 0.033
  41. Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. Pediatr Neurol. 2020 09; 110:64-70.
    View in: PubMed
    Score: 0.033
  42. Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity. J Neurodev Disord. 2020 03 24; 12(1):10.
    View in: PubMed
    Score: 0.033
  43. Validation of the NIH Toolbox Cognitive Battery in intellectual disability. Neurology. 2020 03 24; 94(12):e1229-e1240.
    View in: PubMed
    Score: 0.033
  44. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31.
    View in: PubMed
    Score: 0.032
  45. Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302.
    View in: PubMed
    Score: 0.032
  46. Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. Mol Autism. 2019; 10:50.
    View in: PubMed
    Score: 0.032
  47. Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis. J Autism Dev Disord. 2019 Nov; 49(11):4595-4602.
    View in: PubMed
    Score: 0.032
  48. Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
    View in: PubMed
    Score: 0.031
  49. Preventive care services and health behaviors in children with fragile X syndrome. Disabil Health J. 2019 10; 12(4):564-573.
    View in: PubMed
    Score: 0.031
  50. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology. 2019 04 16; 92(16):e1912-e1925.
    View in: PubMed
    Score: 0.031
  51. Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents. Sci Rep. 2018 11 19; 8(1):16970.
    View in: PubMed
    Score: 0.030
  52. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43.
    View in: PubMed
    Score: 0.030
  53. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. 2017 Nov 02; 101(5):856-865.
    View in: PubMed
    Score: 0.028
  54. Intrathecal 2-hydroxypropyl-?-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017 Oct 14; 390(10104):1758-1768.
    View in: PubMed
    Score: 0.027
  55. The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary. Pediatrics. 2017 06; 139(Suppl 3):S147-S152.
    View in: PubMed
    Score: 0.027
  56. FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun; 139(Suppl 3):S183-S193.
    View in: PubMed
    Score: 0.027
  57. Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. Respir Physiol Neurobiol. 2016 Jan 15; 221:59-63.
    View in: PubMed
    Score: 0.024
  58. Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations. Pediatr Res. 1995 Nov; 38(5):638-43.
    View in: PubMed
    Score: 0.024
  59. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. Orphanet J Rare Dis. 2015 Aug 25; 10:103.
    View in: PubMed
    Score: 0.024
  60. Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome. Gait Posture. 2014 Feb; 39(2):827-30.
    View in: PubMed
    Score: 0.021
  61. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77.
    View in: PubMed
    Score: 0.020
  62. Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome. Am J Med Genet. 1993 Jan 01; 45(1):81-7.
    View in: PubMed
    Score: 0.020
  63. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013 Jan 15; 80(3):268-75.
    View in: PubMed
    Score: 0.020
  64. Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. J Autism Dev Disord. 2012 Jul; 42(7):1377-92.
    View in: PubMed
    Score: 0.019
  65. Cyclic AMP metabolism in fragile X syndrome. Ann Neurol. 1992 Jan; 31(1):22-6.
    View in: PubMed
    Score: 0.019
  66. Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord. 2011 Nov; 41(11):1515-22.
    View in: PubMed
    Score: 0.018
  67. Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. Neuropsychopharmacology. 2012 Jan; 37(1):178-95.
    View in: PubMed
    Score: 0.018
  68. Autonomic regulation in fragile X syndrome. Dev Psychobiol. 2011 Dec; 53(8):785-95.
    View in: PubMed
    Score: 0.018
  69. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15; 181(6):626-44.
    View in: PubMed
    Score: 0.016
  70. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol. 2010 Jan; 45(1):92-8.
    View in: PubMed
    Score: 0.016
  71. A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62.
    View in: PubMed
    Score: 0.015
  72. A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome. J Intellect Disabil Res. 2009 Feb; 53(2):125-42.
    View in: PubMed
    Score: 0.015
  73. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan; 43(1):77-86.
    View in: PubMed
    Score: 0.014
  74. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007 Jul; 120(1):e179-88.
    View in: PubMed
    Score: 0.014
  75. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14.
    View in: PubMed
    Score: 0.013
  76. Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res. 2006 Jan; 59(1):39-45.
    View in: PubMed
    Score: 0.012
  77. In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol. 2005 Nov 15; 149(1-3):73-82.
    View in: PubMed
    Score: 0.012
  78. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62.
    View in: PubMed
    Score: 0.011
  79. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A. 2003 Dec 15; 123A(3):267-78.
    View in: PubMed
    Score: 0.011
  80. Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder. Life Sci. 1993; 52(25):2005-15.
    View in: PubMed
    Score: 0.005
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Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.