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Author Details

Walter E Kaufmann
Emory University School of Medicine
1989
212
66
PMIDPaper TitleJournal TitlePublished Year
36441429Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.J Autism Dev Disord2024
37881024CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.Dev Med Child Neurol2024
37198960Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.Clin Genet2023
37515316Concentration-QTc Relationship from a Single Ascending Dose Study of ANAVEX3-71, a Novel Sigma-1 Receptor and Allosteric M1 Muscarinic Receptor Agonist in Development for the Treatment of Frontotemporal Dementia, Schizophrenia, and Alzheimer's Disease.Clin Pharmacol Drug Dev2023
37840096Sensory Symptoms and Signs of Hyperarousal in Individuals with Fragile X Syndrome: Findings from the FORWARD Registry and Database Multisite Study.J Autism Dev Disord2023
37651202Effects of AFQ056 on language learning in fragile X syndrome.J Clin Invest2023
37104862Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure.Am J Intellect Dev Disabil2023
34664257Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.Clin Genet2022
35568815Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.J Neurodev Disord2022
35852003Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.Mol Genet Genomic Med2022
35661397Brain cell signaling abnormalities are detected in blood in a murine model of Fragile X syndrome and corrected by Sigma-1 receptor agonist Blarcamesine.Am J Med Genet A2022
35712450Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome.Front Neurosci2022
34889523Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.Am J Med Genet A2022
35148024The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.Am J Med Genet A2022
34028805Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.Dev Med Child Neurol2021
34433831Effects of the sigma-1 receptor agonist blarcamesine in a murine model of fragile X syndrome: neurobehavioral phenotypes and receptor occupancy.Sci Rep2021
34818076Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome.J Child Adolesc Psychopharmacol2021
34388423Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.Pediatr Neurol2021
31342442Improving 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 Disord2020
31985047Long QT interval in Rett syndrome: expanding the knowledge of a poorly understood phenomenon.Dev Med Child Neurol2020
33211820A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials.Am J Intellect Dev Disabil2020
33008014A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.Brain Sci2020
32636765Autism Spectrum Disorder Versus Autism Spectrum Disorders: Terminology, Concepts, and Clinical Practice.Front Psychiatry2020
32932789Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis.Brain Sci2020
32756423Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome.Brain Sci2020
32951657Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire.Pediatr Neurol2020
32318621A precision medicine framework using artificial intelligence for the identification and confirmation of genomic biomarkers of response to an Alzheimer's disease therapy: Analysis of the blarcamesine (ANAVEX2-73) Phase 2a clinical study.Alzheimers Dement (N Y)2020
32161522Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.Front Integr Neurosci2020
30536762The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.Am J Med Genet B Neuropsychiatr Genet2019
31704481ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome.Pharmacol Biochem Behav2019
30217666Behavioral profiles in Rett syndrome: Data from the natural history study.Brain Dev2019
31468273Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.J Autism Dev Disord2019
31229631Transcriptomic Studies in Mouse Models of Rett Syndrome: A Review.Neuroscience2019
30918097Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.Neurology2019
31147226Severity Assessment in CDKL5 Deficiency Disorder.Pediatr Neurol2019
31053667Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.Neurology2019
30788845Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.Clin Genet2019
30649225Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.Brain2019
29657083The course of awake breathing disturbances across the lifespan in Rett syndrome.Brain Dev2018
30558274Best Practices in Fragile X Syndrome Treatment Development.Brain Sci2018
29358616Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.Eur J Hum Genet2018
27171548Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Genet Med2017
29875616Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.J Intellect Dev Disabil2017
28390033A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.Curr Neurol Neurosci Rep2017
28132121Assessment of Caregiver Inventory for Rett Syndrome.J Autism Dev Disord2017
28347601Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.Pediatr Neurol2017
29059905Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine.Annu Int Conf IEEE Eng Med Biol Soc2017
29194024Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.Intellect Dev Disabil2017
28814540Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.Pediatrics2017
28814539FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.Pediatrics2017
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Kennedy Krieger Institute, Johns Hopkins Medical Institutions
Co-authored papers 14
Barnard College of Columbia University
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University of California San Diego
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University of Maryland School of Medicine
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Center for Human Development, University of California
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University of California San Diego
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University of California
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The Qualcomm Institute, University of California
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Johns Hopkins University School of Medicine
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Yale School of Medicine, Yale University
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University of Washington.
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Haukeland University Hospital
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