Publications

• Publisher Correction: Rett syndrome.
  Nat Rev Dis Primers Volume: 11 Page(s): 19
  03/24/2025 Authors: Gold WA; Percy AK; Neul JL; Cobb SR; Pozzo-Miller L; Issar JK; Ben-Zeev B; Vignoli A; Kaufmann WE
• The Aberrant Behavior Checklist for Fragile X Syndrome: A Qualitative Clinician Evaluation of Content Validity.
  J Child Adolesc Psychopharmacol
  02/06/2025 Authors: Oberman LM; Berry-Kravis E; Budimirovic DB; Erickson CA; Hagerman RJ; Harris HK; Hessl D; Lozano R; Thurm A; Tartaglia N
• Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related Factors.
  J Child Adolesc Psychopharmacol
  02/05/2025 Authors: Kaufmann WE; Oberman LM; Downs J; Leonard H; Barnes KV
• Blarcamesine for the treatment of Early Alzheimer's Disease: Results from the ANAVEX2-73-AD-004 Phase IIB/III trial.
  J Prev Alzheimers Dis Volume: 12 Page(s): 100016
  01/01/2025 Authors: Macfarlane S; Grimmer T; Teo K; O'Brien TJ; Woodward M; Grunfeld J; Mander A; Brodtmann A; Brew BJ; Morris P
• International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.
  Trials Volume: 25 Page(s): 845
  12/21/2024 Authors: Downs J; Pichard DC; Kaufmann WE; Horrigan JP; Raspa M; Townend G; Marsh ED; Leonard H; Motil K; Dietz AC
• Drug Treatments for Neurodevelopmental Disorders: Targeting Signaling Pathways and Homeostasis.
  Curr Neurol Neurosci Rep Volume: 25 Page(s): 7
  12/06/2024 Authors: Kaufmann WE; Luu S; Budimirovic DB
• Rett syndrome.
  Nat Rev Dis Primers Volume: 10 Page(s): 84
  11/07/2024 Authors: Gold WA; Percy AK; Neul JL; Cobb SR; Pozzo-Miller L; Issar JK; Ben-Zeev B; Vignoli A; Kaufmann WE
• Sensory Symptoms and Signs of Hyperarousal in Individuals with Fragile X Syndrome: Findings from the FORWARD Registry and Database Multisite Study.
  J Autism Dev Disord Volume: 54 Page(s): 4259 - 4277
  11/01/2024 Authors: Lachiewicz AM; Stackhouse TM; Burgess K; Burgess D; Andrews HF; Choo T-H; Kaufmann WE; Kidd SA
• Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.
  Orphanet J Rare Dis Volume: 19 Page(s): 296
  08/13/2024 Authors: Kaufmann WE; Percy AK; Neul JL; Downs J; Leonard H; Nues P; Sharma GD; Bartolotta TE; Townend GS; Curfs LMG
• CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.
  Dev Med Child Neurol Volume: 66 Page(s): 410 - 411
  04/01/2024 Authors: Kaufmann WE
• Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.
  J Autism Dev Disord Volume: 54 Page(s): 725 - 737
  02/01/2024 Authors: Kaufmann WE; Raspa M; Bann CM; Gable JM; Harris HK; Budimirovic DB; Lozano R; FORWARD Consortium
• Effects of AFQ056 on language learning in fragile X syndrome.
  J Clin Invest Volume: 134
  08/31/2023 Authors: Berry-Kravis E; Abbeduto L; Hagerman R; Coffey CS; Cudkowicz M; Erickson CA; McDuffie A; Hessl D; Ethridge L; Tassone F
• Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
  Mol Genet Genomic Med Volume: 10 Page(s): e2001
  08/01/2022 Authors: Albizua I; Charen K; Shubeck L; Talboy A; Berry-Kravis E; Kaufmann WE; Stallworth JL; Drazba KT; Erickson CA; Sweeney JA
• Brain 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 A Volume: 188 Page(s): 2497 - 2500
  08/01/2022 Authors: Cogram P; Deacon RMJ; Klamer D; Rebowe N; Sprouse J; Reyes ST; Missling CU; Kaufmann WE
• Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.
  J Neurodev Disord Volume: 14 Page(s): 31
  05/14/2022 Authors: Buchanan CB; Stallworth JL; Joy AE; Dixon RE; Scott AE; Beisang AA; Benke TA; Glaze DG; Haas RH; Heydemann PT
• Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.
  Am J Med Genet A Volume: 188 Page(s): 1029 - 1039
  04/01/2022 Authors: Budimirovic DB; Protic DD; Delahunty CM; Andrews HF; Choo T-H; Xu Q; Berry-Kravis E; Kaufmann WE; FORWARD Consortium
• The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
  Am J Med Genet A Volume: 188 Page(s): 858 - 866
  03/01/2022 Authors: Meng L; Kaufmann WE; Frye RE; Ong K; Kaminski JW; Velinov M; Berry-Kravis E
• Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
  Clin Genet Volume: 101 Page(s): 87 - 100
  01/01/2022 Authors: Jain L; Oberman LM; Beamer L; Cascio L; May M; Srikanth S; Skinner C; Jones K; Allen B; Rogers C
• Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome.
  Front Neurosci Volume: 16 Page(s): 868008
  01/01/2022 Authors: Shovlin S; Delepine C; Swanson L; Bach S; Sahin M; Sur M; Kaufmann WE; Tropea D
• Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome.
  J Child Adolesc Psychopharmacol Volume: 31 Page(s): 659 - 669
  12/01/2021 Authors: Dominick KC; Andrews HF; Kaufmann WE; Berry-Kravis E; Erickson CA
• Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.
  Dev Med Child Neurol Volume: 63 Page(s): 1308 - 1315
  11/01/2021 Authors: Olson HE; Costantini JG; Swanson LC; Kaufmann WE; Benke TA; Fulton AB; Hansen R; Poduri A; Heidary G
• Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.
  Pediatr Neurol Volume: 123 Page(s): 30 - 37
  10/01/2021 Authors: Veatch OJ; Malow BA; Lee H-S; Knight A; Barrish JO; Neul JL; Lane JB; Skinner SA; Kaufmann WE; Miller JL
• Effects of the sigma-1 receptor agonist blarcamesine in a murine model of fragile X syndrome: neurobehavioral phenotypes and receptor occupancy.
  Sci Rep Volume: 11 Page(s): 17150
  08/25/2021 Authors: Reyes ST; Deacon RMJ; Guo SG; Altimiras FJ; Castillo JB; van der Wildt B; Morales AP; Park JH; Klamer D; Rosenberg J
• Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort.
  Front Pediatr Volume: 9 Page(s): 736255
  01/01/2021 Authors: Berry-Kravis E; Filipink RA; Frye RE; Golla S; Morris SM; Andrews H; Choo T-H; Kaufmann WE; FORWARD Consortium
• A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials.
  Am J Intellect Dev Disabil Volume: 125 Page(s): 493 - 509
  11/01/2020 Authors: Raspa M; Bann CM; Gwaltney A; Benke TA; Fu C; Glaze DG; Haas R; Heydemann P; Jones M; Kaufmann WE
• Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire.
  Pediatr Neurol Volume: 111 Page(s): 4
  10/01/2020 Authors: Oberman LM; Downs J; Cianfaglione R; Leonard H; Kaufmann WE
• A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
  Brain Sci Volume: 10
  09/30/2020 Authors: Budimirovic DB; Schlageter A; Filipovic-Sadic S; Protic DD; Bram E; Mahone EM; Nicholson K; Culp K; Javanmardi K; Kemppainen J
• Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis.
  Brain Sci Volume: 10
  09/11/2020 Authors: Luu S; Province H; Berry-Kravis E; Hagerman R; Hessl D; Vaidya D; Lozano R; Rosselot H; Erickson C; Kaufmann WE
• 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 Volume: 50 Page(s): 3276 - 3295
  09/01/2020 Authors: Kidd SA; Berry-Kravis E; Choo TH; Chen C; Esler A; Hoffmann A; Andrews HF; Kaufmann WE
• Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome.
  Brain Sci Volume: 10
  08/03/2020 Authors: Keogh C; Pini G; Gemo I; Kaufmann WE; Tropea D
• Long QT interval in Rett syndrome: expanding the knowledge of a poorly understood phenomenon.
  Dev Med Child Neurol Volume: 62 Page(s): 775
  07/01/2020 Authors: Kaufmann WE
• A 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) Volume: 6 Page(s): e12013
  01/01/2020 Authors: Hampel H; Williams C; Etcheto A; Goodsaid F; Parmentier F; Sallantin J; Kaufmann WE; Missling CU; Afshar M
• Autism Spectrum Disorder Versus Autism Spectrum Disorders: Terminology, Concepts, and Clinical Practice.
  Front Psychiatry Volume: 11 Page(s): 484
  01/01/2020 Authors: Oberman LM; Kaufmann WE
• ANAVEX2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome.
  Pharmacol Biochem Behav Volume: 187 Page(s): 172796
  12/01/2019 Authors: Kaufmann WE; Sprouse J; Rebowe N; Hanania T; Klamer D; Missling CU
• Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.
  J Autism Dev Disord Volume: 49 Page(s): 4595 - 4602
  11/01/2019 Authors: Eckert EM; Dominick KC; Pedapati EV; Wink LK; Shaffer RC; Andrews H; Choo T-H; Chen C; Kaufmann WE; Tartaglia N
• Transcriptomic Studies in Mouse Models of Rett Syndrome: A Review.
  Neuroscience Volume: 413 Page(s): 183 - 205
  08/10/2019 Authors: Sanfeliu A; Kaufmann WE; Gill M; Guasoni P; Tropea D
• Severity Assessment in CDKL5 Deficiency Disorder.
  Pediatr Neurol Volume: 97 Page(s): 38 - 42
  08/01/2019 Authors: Demarest S; Pestana-Knight EM; Olson HE; Downs J; Marsh ED; Kaufmann WE; Partridge C-A; Leonard H; Gwadry-Sridhar F; Frame KE
• Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.
  Neurology Volume: 92 Page(s): e2594 - e2603
  05/28/2019 Authors: Stallworth JL; Dy ME; Buchanan CB; Chen C-F; Scott AE; Glaze DG; Lane JB; Lieberman DN; Oberman LM; Skinner SA
• Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
  Clin Genet Volume: 95 Page(s): 575 - 581
  05/01/2019 Authors: Peters SU; Fu C; Suter B; Marsh E; Benke TA; Skinner SA; Lieberman DN; Standridge S; Jones M; Beisang A
• Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.
  Neurology Volume: 92 Page(s): e1912 - e1925
  04/16/2019 Authors: Glaze DG; Neul JL; Kaufmann WE; Berry-Kravis E; Condon S; Stoms G; Oosterholt S; Della Pasqua O; Glass L; Jones NE
• Behavioral profiles in Rett syndrome: Data from the natural history study.
  Brain Dev Volume: 41 Page(s): 123 - 134
  02/01/2019 Authors: Buchanan CB; Stallworth JL; Scott AE; Glaze DG; Lane JB; Skinner SA; Tierney AE; Percy AK; Neul JL; Kaufmann WE
• Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.
  Brain Volume: 142 Page(s): 239 - 248
  02/01/2019 Authors: Banerjee A; Miller MT; Li K; Sur M; Kaufmann WE
• The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
  Am J Med Genet B Neuropsychiatr Genet Volume: 180 Page(s): 55 - 67
  01/01/2019 Authors: Neul JL; Benke TA; Marsh ED; Skinner SA; Merritt J; Lieberman DN; Standridge S; Feyma T; Heydemann P; Peters S
• Best Practices in Fragile X Syndrome Treatment Development.
  Brain Sci Volume: 8
  12/15/2018 Authors: Erickson CA; Kaufmann WE; Budimirovic DB; Lachiewicz A; Haas-Givler B; Miller RM; Weber JD; Abbeduto L; Hessl D; Hagerman RJ
• The course of awake breathing disturbances across the lifespan in Rett syndrome.
  Brain Dev Volume: 40 Page(s): 515 - 529
  08/01/2018 Authors: Tarquinio DC; Hou W; Neul JL; Berkmen GK; Drummond J; Aronoff E; Harris J; Lane JB; Kaufmann WE; Motil KJ
• Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome (vol 5, pg 323, 2018)
  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY Volume: 5 Page(s): 895 - 895
  07/01/2018 Authors: O'Leary HM; Kaufmann WE; Barnes KV; Rakesh K; Kapur K; Tarquinio DC; Cantwell NG; Roche KJ; Rose SA; Walco AC
• Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.
  Eur J Hum Genet Volume: 26 Page(s): 293 - 302
  03/01/2018 Authors: Mitz AR; Philyaw TJ; Boccuto L; Shcheglovitov A; Sarasua SM; Kaufmann WE; Thurm A
• Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.
  Ann Clin Transl Neurol Volume: 5 Page(s): 323 - 332
  03/01/2018 Authors: O'Leary HM; Kaufmann WE; Barnes KV; Rakesh K; Kapur K; Tarquinio DC; Cantwell NG; Roche KJ; Rose SA; Walco AC
• Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.
  Intellect Dev Disabil Volume: 55 Page(s): 419 - 431
  12/01/2017 Authors: Clarkson T; LeBlanc J; DeGregorio G; Vogel-Farley V; Barnes K; Kaufmann WE; Nelson CA
• Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.
  Pediatr Neurol Volume: 75 Page(s): 91 - 95
  10/01/2017 Authors: Dy ME; Waugh JL; Sharma N; O'Leary H; Kapur K; D'Gama AM; Sahin M; Urion DK; Kaufmann WE
• Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine.
  Annu Int Conf IEEE Eng Med Biol Soc Volume: 2017 Page(s): 442 - 445
  07/01/2017 Authors: O'Leary HM; Mayor JM; Chi-Sang Poon; Kaufmann WE; Sahin M
• Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.
  Pediatrics Volume: 139 Page(s): S194 - S206
  06/01/2017 Authors: Kaufmann WE; Kidd SA; Andrews HF; Budimirovic DB; Esler A; Haas-Givler B; Stackhouse T; Riley C; Peacock G; Sherman SL
• FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
  Pediatrics Volume: 139 Page(s): S183 - S193
  06/01/2017 Authors: Sherman SL; Kidd SA; Riley C; Berry-Kravis E; Andrews HF; Miller RM; Lincoln S; Swanson M; Kaufmann WE; Brown WT
• A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.
  Curr Neurol Neurosci Rep Volume: 17 Page(s): 43
  05/01/2017 Authors: Marschik PB; Pokorny FB; Peharz R; Zhang D; O'Muircheartaigh J; Roeyers H; Blte S; Spittle AJ; Urlesberger B; Schuller B
• Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
  Pediatr Neurol Volume: 70 Page(s): 20 - 25
  05/01/2017 Authors: Killian JT; Lane JB; Lee H-S; Skinner SA; Kaufmann WE; Glaze DG; Neul JL; Percy AK
• Assessment of Caregiver Inventory for Rett Syndrome.
  J Autism Dev Disord Volume: 47 Page(s): 1102 - 1112
  04/01/2017 Authors: Lane JB; Salter AR; Jones NE; Cutter G; Horrigan J; Skinner SA; Kaufmann WE; Glaze DG; Neul JL; Percy AK
• Detecting autonomic response to pain in Rett syndrome.
  Dev Neurorehabil Volume: 20 Page(s): 108 - 114
  02/01/2017 Authors: O'Leary HM; Marschik PB; Khwaja OS; Ho E; Barnes KV; Clarkson TW; Bruck NM; Kaufmann WE
• Longitudinal course of epilepsy in Rett syndrome and related disorders.
  Brain Volume: 140 Page(s): 306 - 318
  02/01/2017 Authors: Tarquinio DC; Hou W; Berg A; Kaufmann WE; Lane JB; Skinner SA; Motil KJ; Neul JL; Percy AK; Glaze DG
• Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.
  J Intellect Dev Disabil Volume: 42 Page(s): 114 - 122
  01/01/2017 Authors: Zhang D; Kaufmann WE; Sigafoos J; Bartl-Pokorny KD; Krieber M; Marschik PB; Einspieler C
• Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
  Genet Med Volume: 19 Page(s): 13 - 19
  01/01/2017 Authors: Sajan SA; Jhangiani SN; Muzny DM; Gibbs RA; Lupski JR; Glaze DG; Kaufmann WE; Skinner SA; Annese F; Friez MJ
• Fragile X targeted pharmacotherapy: lessons learned and future directions.
  J Neurodev Disord Volume: 9 Page(s): 7
  01/01/2017 Authors: Erickson CA; Davenport MH; Schaefer TL; Wink LK; Pedapati EV; Sweeney JA; Fitzpatrick SE; Brown WT; Budimirovic D; Hagerman RJ
• Updated report on tools to measure outcomes of clinical trials in fragile X syndrome.
  J Neurodev Disord Volume: 9 Page(s): 14
  01/01/2017 Authors: Budimirovic DB; Berry-Kravis E; Erickson CA; Hall SS; Hessl D; Reiss AL; King MK; Abbeduto L; Kaufmann WE
• Arbaclofen in fragile X syndrome: results of phase 3 trials.
  J Neurodev Disord Volume: 9 Page(s): 3
  01/01/2017 Authors: Berry-Kravis E; Hagerman R; Visootsak J; Budimirovic D; Kaufmann WE; Cherubini M; Zarevics P; Walton-Bowen K; Wang P; Bear MF
• Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century.
  Curr Neurol Neurosci Rep Volume: 16 Page(s): 103
  12/01/2016 Authors: Kaufmann WE
• Neurobiologically-based treatments in Rett syndrome: opportunities and challenges.
  Expert Opin Orphan Drugs Volume: 4 Page(s): 1043 - 1055
  10/02/2016 Authors: Kaufmann WE; Stallworth JL; Everman DB; Skinner SA
• Gray matter maturation and cognition in children with different APOE genotypes.
  Neurology Volume: 87 Page(s): 585 - 594
  08/09/2016 Authors: Chang L; Douet V; Bloss C; Lee K; Pritchett A; Jernigan TL; Akshoomoff N; Murray SS; Frazier J; Kennedy DN
• Anxiety is related to indices of cortical maturation in typically developing children and adolescents.
  Brain Struct Funct Volume: 221 Page(s): 3013 - 3025
  07/01/2016 Authors: Newman E; Thompson WK; Bartsch H; Hagler DJ; Chen C-H; Brown TT; Kuperman JM; McCabe C; Chung Y; Libiger O
• Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.
  Pediatr Neurol Volume: 58 Page(s): 67 - 74
  05/01/2016 Authors: Killian JT; Lane JB; Lee H-S; Pelham JH; Skinner SA; Kaufmann WE; Glaze DG; Neul JL; Percy AK
• Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children.
  Brain Imaging Behav Volume: 10 Page(s): 272 - 282
  03/01/2016 Authors: Eicher JD; Montgomery AM; Akshoomoff N; Amaral DG; Bloss CS; Libiger O; Schork NJ; Darst BF; Casey BJ; Chang L
• The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository.
  Neuroimage Volume: 124 Page(s): 1149 - 1154
  01/01/2016 Authors: Jernigan TL; Brown TT; Hagler DJ; Akshoomoff N; Bartsch H; Newman E; Thompson WK; Bloss CS; Murray SS; Schork N
• Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.
  PLoS One Volume: 11 Page(s): e0165550
  01/01/2016 Authors: Ward CS; Huang T-W; Herrera JA; Samaco RC; Pitcher MR; Herron A; Skinner SA; Kaufmann WE; Glaze DG; Percy AK
• Visual evoked potentials detect cortical processing deficits in Rett syndrome.
  Ann Neurol Volume: 78 Page(s): 775 - 786
  11/01/2015 Authors: LeBlanc JJ; DeGregorio G; Centofante E; Vogel-Farley VK; Barnes K; Kaufmann WE; Fagiolini M; Nelson CA
• The Changing Face of Survival in Rett Syndrome andMECP2-Related Disorders.
  Pediatr Neurol Volume: 53 Page(s): 402 - 411
  11/01/2015 Authors: Tarquinio DC; Hou W; Neul JL; Kaufmann WE; Glaze DG; Motil KJ; Skinner SA; Lee H-S; Percy AK
• Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
  Am J Med Genet A Volume: 167A Page(s): 2017 - 2025
  09/01/2015 Authors: Olson HE; Tambunan D; LaCoursiere C; Goldenberg M; Pinsky R; Martin E; Ho E; Khwaja O; Kaufmann WE; Poduri A
• Medical and ethical challenges in the case of a prenatally undiagnosed massive congenital brain tumor.
  J Perinatol Volume: 35 Page(s): 773 - 775
  09/01/2015 Authors: Olischar M; Stavroudis T; Karp JK; Kaufmann WE; Theda C
• Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.
  Orphanet J Rare Dis Volume: 10 Page(s): 105
  08/27/2015 Authors: Oberman LM; Boccuto L; Cascio L; Sarasua S; Kaufmann WE
• Methyl CpG binding protein 2 deficiency enhances expression of inflammatory cytokines by sustaining NF-B signaling in myeloid derived cells.
  J Neuroimmunol Volume: 283 Page(s): 23 - 29
  06/15/2015 Authors: O'Driscoll CM; Lima MP; Kaufmann WE; Bressler JP
• Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.
  Pediatr Neurol Volume: 52 Page(s): 585 - 91.e2
  06/01/2015 Authors: Tarquinio DC; Hou W; Neul JL; Lane JB; Barnes KV; O'Leary HM; Bruck NM; Kaufmann WE; Motil KJ; Glaze DG
• Family income, parental education and brain structure in children and adolescents.
  Nat Neurosci Volume: 18 Page(s): 773 - 778
  05/01/2015 Authors: Noble KG; Houston SM; Brito NH; Bartsch H; Kan E; Kuperman JM; Akshoomoff N; Amaral DG; Bloss CS; Libiger O
• Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.
  Dis Model Mech Volume: 8 Page(s): 363 - 371
  04/01/2015 Authors: Herrera JA; Ward CS; Pitcher MR; Percy AK; Skinner S; Kaufmann WE; Glaze DG; Wehrens XHT; Neul JL
• Psychiatric disorders and left-handedness in children living in an urban environment.
  Laterality Volume: 20 Page(s): 249 - 256
  01/01/2015 Authors: Logue DD; Logue RT; Kaufmann WE; Belcher HME
• En route to disentangle the impact and neurobiological substrates of early vocalizations: learning from Rett syndrome.
  Behav Brain Sci Volume: 37 Page(s): 562 - 563
  12/01/2014 Authors: Marschik PB; Kaufmann WE; Blte S; Sigafoos J; Einspieler C
• Pubertal development in Rett syndrome deviates from typical females.
  Pediatr Neurol Volume: 51 Page(s): 769 - 775
  12/01/2014 Authors: Killian JT; Lane JB; Cutter GR; Skinner SA; Kaufmann WE; Tarquinio DC; Glaze DG; Motil KJ; Neul JL; Percy AK
• Common DNA methylation alterations in multiple brain regions in autism.
  Mol Psychiatry Volume: 19 Page(s): 862 - 871
  08/01/2014 Authors: Ladd-Acosta C; Hansen KD; Briem E; Fallin MD; Kaufmann WE; Feinberg AP
• To ID or not to ID? Changes in classification rates of intellectual disability using DSM-5.
  Intellect Dev Disabil Volume: 52 Page(s): 165 - 174
  06/01/2014 Authors: Papazoglou A; Jacobson LA; McCabe M; Kaufmann W; Zabel TA
• Schizophrenia-risk variant rs6994992 in the neuregulin-1 gene on brain developmental trajectories in typically developing children.
  Transl Psychiatry Volume: 4 Page(s): e392
  05/27/2014 Authors: Douet V; Chang L; Pritchett A; Lee K; Keating B; Bartsch H; Jernigan TL; Dale A; Akshoomoff N; Murray S
• Automated MRI parcellation of the frontal lobe.
  Hum Brain Mapp Volume: 35 Page(s): 2009 - 2026
  05/01/2014 Authors: Ranta ME; Chen M; Crocetti D; Prince JL; Subramaniam K; Fischl B; Kaufmann WE; Mostofsky SH
• Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey.
  Am J Med Genet A Volume: 164A Page(s): 1198 - 1203
  05/01/2014 Authors: Talisa VB; Boyle L; Crafa D; Kaufmann WE
• Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.
  Proc Natl Acad Sci U S A Volume: 111 Page(s): 4596 - 4601
  03/25/2014 Authors: Khwaja OS; Ho E; Barnes KV; O'Leary HM; Pereira LM; Finkelstein Y; Nelson CA; Vogel-Farley V; DeGregorio G; Holm IA
• Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
  J Med Genet Volume: 51 Page(s): 152 - 158
  03/01/2014 Authors: Cuddapah VA; Pillai RB; Shekar KV; Lane JB; Motil KJ; Skinner SA; Tarquinio DC; Glaze DG; McGwin G; Kaufmann WE
• Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome.
  Res Dev Disabil Volume: 35 Page(s): 597 - 602
  03/01/2014 Authors: Marschik PB; Bartl-Pokorny KD; Sigafoos J; Urlesberger L; Pokorny F; Didden R; Einspieler C; Kaufmann WE
• Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.
  Dev Neurorehabil Volume: 17 Page(s): 34 - 38
  02/01/2014 Authors: Marschik PB; Bartl-Pokorny KD; Tager-Flusberg H; Kaufmann WE; Pokorny F; Grossmann T; Windpassinger C; Petek E; Einspieler C
• Small molecule glutaminase inhibitors block glutamate release from stimulated microglia.
  Biochem Biophys Res Commun Volume: 443 Page(s): 32 - 36
  01/03/2014 Authors: Thomas AG; O'Driscoll CM; Bressler J; Kaufmann W; Rojas CJ; Slusher BS
• The NIH Toolbox Cognition Battery: results from a large normative developmental sample (PING).
  Neuropsychology Volume: 28 Page(s): 1 - 10
  01/01/2014 Authors: Akshoomoff N; Newman E; Thompson WK; McCabe C; Bloss CS; Chang L; Amaral DG; Casey BJ; Ernst TM; Frazier JA
• MeCP2 deficiency enhances glutamate release through NF-B signaling in myeloid derived cells.
  J Neuroimmunol Volume: 265 Page(s): 61 - 67
  12/15/2013 Authors: O'Driscoll CM; Kaufmann WE; Bressler JP
• Genome-wide association study of shared components of reading disability and language impairment.
  Genes Brain Behav Volume: 12 Page(s): 792 - 801
  11/01/2013 Authors: Eicher JD; Powers NR; Miller LL; Akshoomoff N; Amaral DG; Bloss CS; Libiger O; Schork NJ; Darst BF; Casey BJ
• Early socio-communicative forms and functions in typical Rett syndrome.
  Res Dev Disabil Volume: 34 Page(s): 3133 - 3138
  10/01/2013 Authors: Bartl-Pokorny KD; Marschik PB; Sigafoos J; Tager-Flusberg H; Kaufmann WE; Grossmann T; Einspieler C
• Measuring cell-type specific differential methylation in human brain tissue.
  Genome Biol Volume: 14 Page(s): R94
  08/30/2013 Authors: Montao CM; Irizarry RA; Kaufmann WE; Talbot K; Gur RE; Feinberg AP; Taub MA
• Changing the perspective on early development of Rett syndrome.
  Res Dev Disabil Volume: 34 Page(s): 1236 - 1239
  04/01/2013 Authors: Marschik PB; Kaufmann WE; Sigafoos J; Wolin T; Zhang D; Bartl-Pokorny KD; Pini G; Zappella M; Tager-Flusberg H; Einspieler C
• Relationship between Mecp2 and NFb signaling during neural differentiation of P19 cells.
  Brain Res Volume: 1490 Page(s): 35 - 42
  01/15/2013 Authors: O'Driscoll C; Kaufmann WE; Bressler J
• Long-term influence of normal variation in neonatal characteristics on human brain development.
  Proc Natl Acad Sci U S A Volume: 109 Page(s): 20089 - 20094
  12/04/2012 Authors: Walhovd KB; Fjell AM; Brown TT; Kuperman JM; Chung Y; Hagler DJ; Roddey JC; Erhart M; McCabe C; Akshoomoff N
• Newborn, carrier, and early childhood screening recommendations for fragile X.
  Pediatrics Volume: 130 Page(s): 1126 - 1135
  12/01/2012 Authors: Abrams L; Cronister A; Brown WT; Tassone F; Sherman SL; Finucane B; McConkie-Rosell A; Hagerman R; Kaufmann WE; Picker J
• Multimodal imaging of the self-regulating developing brain.
  Proc Natl Acad Sci U S A Volume: 109 Page(s): 19620 - 19625
  11/27/2012 Authors: Fjell AM; Walhovd KB; Brown TT; Kuperman JM; Chung Y; Hagler DJ; Venkatraman V; Roddey JC; Erhart M; McCabe C
• Neuroanatomical assessment of biological maturity.
  Curr Biol Volume: 22 Page(s): 1693 - 1698
  09/25/2012 Authors: Brown TT; Kuperman JM; Chung Y; Erhart M; McCabe C; Hagler DJ; Venkatraman VK; Akshoomoff N; Amaral DG; Bloss CS
• Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.
  J Autism Dev Disord Volume: 42 Page(s): 1377 - 1392
  07/01/2012 Authors: Sansone SM; Widaman KF; Hall SS; Reiss AL; Lightbody A; Kaufmann WE; Berry-Kravis E; Lachiewicz A; Brown EC; Hessl D
• Commentary from the DSM-5 Workgroup on Neurodevelopmental Disorders.
  J Am Acad Child Adolesc Psychiatry Volume: 51 Page(s): 347 - 349
  04/01/2012 Authors: Swedo SE; Baird G; Cook EH; Happ FG; Harris JC; Kaufmann WE; King BH; Lord CE; Piven J; Rogers SJ
• Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.
  Proc Natl Acad Sci U S A Volume: 109 Page(s): 3985 - 3990
  03/06/2012 Authors: Bakken TE; Roddey JC; Djurovic S; Akshoomoff N; Amaral DG; Bloss CS; Casey BJ; Chang L; Ernst TM; Gruen JR
• Social impairments in Rett syndrome: characteristics and relationship with clinical severity.
  J Intellect Disabil Res Volume: 56 Page(s): 233 - 247
  03/01/2012 Authors: Kaufmann WE; Tierney E; Rohde CA; Suarez-Pedraza MC; Clarke MA; Salorio CF; Bibat G; Bukelis I; Naram D; Lanham DC
• Genome-wide DNA methylation scan in major depressive disorder.
  PLoS One Volume: 7 Page(s): e34451
  01/01/2012 Authors: Sabunciyan S; Aryee MJ; Irizarry RA; Rongione M; Webster MJ; Kaufman WE; Murakami P; Lessard A; Yolken RH; Feinberg AP
• Peculiarities in the gestural repertoire: an early marker for Rett syndrome?
  Res Dev Disabil Volume: 33 Page(s): 1715 - 1721
  01/01/2012 Authors: Marschik PB; Sigafoos J; Kaufmann WE; Wolin T; Talisa VB; Bartl-Pokorny KD; Budimirovic DB; Vollmann R; Einspieler C
• Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome.
  Res Dev Disabil Volume: 33 Page(s): 1749 - 1756
  01/01/2012 Authors: Marschik PB; Kaufmann WE; Einspieler C; Bartl-Pokorny KD; Wolin T; Pini G; Budimirovic DB; Zappella M; Sigafoos J
• Autism spectrum disorder in Down syndrome: cluster analysis of Aberrant Behaviour Checklist data supports diagnosis.
  J Intellect Disabil Res Volume: 55 Page(s): 1064 - 1077
  11/01/2011 Authors: Ji NY; Capone GT; Kaufmann WE
• Comprehensive examination of frontal regions in boys and girls with attention-deficit/hyperactivity disorder.
  J Int Neuropsychol Soc Volume: 17 Page(s): 1047 - 1057
  11/01/2011 Authors: Mahone EM; Ranta ME; Crocetti D; O'Brien J; Kaufmann WE; Denckla MB; Mostofsky SH
• Increased regional fractional anisotropy in highly screened attention-deficit hyperactivity disorder (ADHD).
  J Child Neurol Volume: 26 Page(s): 1296 - 1302
  10/01/2011 Authors: Peterson DJ; Ryan M; Rimrodt SL; Cutting LE; Denckla MB; Kaufmann WE; Mahone EM
• Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period.
  J Child Neurol Volume: 26 Page(s): 1237 - 1245
  10/01/2011 Authors: Foley K-R; Downs J; Bebbington A; Jacoby P; Girdler S; Kaufmann WE; Leonard H
• Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice.
  Anat Rec (Hoboken) Volume: 294 Page(s): 1624 - 1634
  10/01/2011 Authors: Blue ME; Kaufmann WE; Bressler J; Eyring C; O'driscoll C; Naidu S; Johnston MV
• B-crystallin negative astrocytic inclusions.
  Brain Dev Volume: 33 Page(s): 349 - 352
  04/01/2011 Authors: Barnett BP; Bressler J; Chen T; Hutchins GM; Crain BJ; Kaufmann WE
• Alterations in white matter pathways in Angelman syndrome.
  Dev Med Child Neurol Volume: 53 Page(s): 361 - 367
  04/01/2011 Authors: Peters SU; Kaufmann WE; Bacino CA; Anderson AW; Adapa P; Chu Z; Yallampalli R; Traipe E; Hunter JV; Wilde EA
• Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.
  Proc Natl Acad Sci U S A Volume: 108 Page(s): 4920 - 4925
  03/22/2011 Authors: Mejias R; Adamczyk A; Anggono V; Niranjan T; Thomas GM; Sharma K; Skinner C; Schwartz CE; Stevenson RE; Fallin MD
• Longitudinal hand function in Rett syndrome.
  J Child Neurol Volume: 26 Page(s): 334 - 340
  03/01/2011 Authors: Downs J; Bebbington A; Kaufmann WE; Leonard H
• What can we learn about autism from studying fragile X syndrome?
  Dev Neurosci Volume: 33 Page(s): 379 - 394
  01/01/2011 Authors: Budimirovic DB; Kaufmann WE
• Stability of initial autism spectrum disorder diagnoses in community settings.
  J Autism Dev Disord Volume: 41 Page(s): 110 - 121
  01/01/2011 Authors: Daniels AM; Rosenberg RE; Law JK; Lord C; Kaufmann WE; Law PA
• Rett syndrome: revised diagnostic criteria and nomenclature.
  Ann Neurol Volume: 68 Page(s): 944 - 950
  12/01/2010 Authors: Neul JL; Kaufmann WE; Glaze DG; Christodoulou J; Clarke AJ; Bahi-Buisson N; Leonard H; Bailey MES; Schanen NC; Zappella M
• The behavioral phenotype of FMR1 mutations.
  Am J Med Genet C Semin Med Genet Volume: 154C Page(s): 469 - 476
  11/15/2010 Authors: Boyle L; Kaufmann WE
• Level of purposeful hand function as a marker of clinical severity in Rett syndrome.
  Dev Med Child Neurol Volume: 52 Page(s): 817 - 823
  09/01/2010 Authors: Downs J; Bebbington A; Jacoby P; Williams A-M; Ghosh S; Kaufmann WE; Leonard H
• Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome.
  J Neurosci Volume: 30 Page(s): 9929 - 9938
  07/21/2010 Authors: Olmos-Serrano JL; Paluszkiewicz SM; Martin BS; Kaufmann WE; Corbin JG; Huntsman MM
• White matter microstructural differences linked to left perisylvian language network in children with dyslexia.
  Cortex Volume: 46 Page(s): 739 - 749
  06/01/2010 Authors: Rimrodt SL; Peterson DJ; Denckla MB; Kaufmann WE; Cutting LE
• Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database.
  Mov Disord Volume: 25 Page(s): 282 - 288
  02/15/2010 Authors: Carter P; Downs J; Bebbington A; Williams S; Jacoby P; Kaufmann WE; Leonard H
• Characteristics and concordance of autism spectrum disorders among 277 twin pairs.
  Arch Pediatr Adolesc Med Volume: 163 Page(s): 907 - 914
  10/01/2009 Authors: Rosenberg RE; Law JK; Yenokyan G; McGready J; Kaufmann WE; Law PA
• Trends in autism spectrum disorder diagnoses: 1994-2007.
  J Autism Dev Disord Volume: 39 Page(s): 1099 - 1111
  08/01/2009 Authors: Rosenberg RE; Daniels AM; Law JK; Law PA; Kaufmann WE
• A dual DTI approach to analyzing white matter in children with dyslexia.
  Psychiatry Res Volume: 172 Page(s): 215 - 219
  06/30/2009 Authors: Carter JC; Lanham DC; Cutting LE; Clements-Stephens AM; Chen X; Hadzipasic M; Kim J; Denckla MB; Kaufmann WE
• Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation.
  Am J Med Genet A Volume: 149A Page(s): 1125 - 1137
  06/01/2009 Authors: Hernandez RN; Feinberg RL; Vaurio R; Passanante NM; Thompson RE; Kaufmann WE
• Manual MRI parcellation of the frontal lobe.
  Psychiatry Res Volume: 172 Page(s): 147 - 154
  05/15/2009 Authors: Ranta ME; Crocetti D; Clauss JA; Kraut MA; Mostofsky SH; Kaufmann WE
• Advances in the treatment of fragile X syndrome.
  Pediatrics Volume: 123 Page(s): 378 - 390
  01/01/2009 Authors: Hagerman RJ; Berry-Kravis E; Kaufmann WE; Ono MY; Tartaglia N; Lachiewicz A; Kronk R; Delahunty C; Hessl D; Visootsak J
• Brain metabolism in Rett syndrome: age, clinical, and genotype correlations.
  Ann Neurol Volume: 65 Page(s): 90 - 97
  01/01/2009 Authors: Horsk A; Farage L; Bibat G; Nagae LM; Kaufmann WE; Barker PB; Naidu S
• Gross motor profile in rett syndrome as determined by video analysis.
  Neuropediatrics Volume: 39 Page(s): 205 - 210
  08/01/2008 Authors: Downs JA; Bebbington A; Jacoby P; Msall ME; McIlroy O; Fyfe S; Bahi-Buisson N; Kaufmann WE; Leonard H
• Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD.
  Neuron Volume: 59 Page(s): 70 - 83
  07/10/2008 Authors: Park S; Park JM; Kim S; Kim J-A; Shepherd JD; Smith-Hicks CL; Chowdhury S; Kaufmann W; Kuhl D; Ryazanov AG
• The diagnosis of autism in a female: could it be Rett syndrome?
  Eur J Pediatr Volume: 167 Page(s): 661 - 669
  06/01/2008 Authors: Young DJ; Bebbington A; Anderson A; Ravine D; Ellaway C; Kulkarni A; de Klerk N; Kaufmann WE; Leonard H
• Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.
  Am J Med Genet A Volume: 146A Page(s): 1358 - 1367
  05/15/2008 Authors: Coffee B; Ikeda M; Budimirovic DB; Hjelm LN; Kaufmann WE; Warren ST
• Neuroanatomic correlates of autism and stereotypy in children with Down syndrome.
  Neuroreport Volume: 19 Page(s): 653 - 656
  04/16/2008 Authors: Carter JC; Capone GT; Kaufmann WE
• Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
  Neurology Volume: 70 Page(s): 868 - 875
  03/11/2008 Authors: Bebbington A; Anderson A; Ravine D; Fyfe S; Pineda M; de Klerk N; Ben-Zeev B; Yatawara N; Percy A; Kaufmann WE
• Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study.
  AJNR Am J Neuroradiol Volume: 29 Page(s): 436 - 441
  03/01/2008 Authors: Carter JC; Lanham DC; Pham D; Bibat G; Naidu S; Kaufmann WE
• Development of a video-based evaluation tool in Rett syndrome.
  J Autism Dev Disord Volume: 37 Page(s): 1636 - 1646
  10/01/2007 Authors: Fyfe S; Downs J; McIlroy O; Burford B; Lister J; Reilly S; Laurvick CL; Philippe C; Msall M; Kaufmann WE
• Social approach and autistic behavior in children with fragile X syndrome.
  J Autism Dev Disord Volume: 37 Page(s): 1748 - 1760
  10/01/2007 Authors: Roberts JE; Weisenfeld LAH; Hatton DD; Heath M; Kaufmann WE
• Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities.
  Am J Med Genet B Neuropsychiatr Genet Volume: 144B Page(s): 87 - 94
  01/05/2007 Authors: Carter JC; Capone GT; Gray RM; Cox CS; Kaufmann WE
• Cycloxygenase-2 activity promotes cognitive deficits but not increased amyloid burden in a model of Alzheimer's disease in a sex-dimorphic pattern.
  Neuroscience Volume: 141 Page(s): 1149 - 1162
  09/01/2006 Authors: Melnikova T; Savonenko A; Wang Q; Liang X; Hand T; Wu L; Kaufmann WE; Vehmas A; Andreasson KI
• Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal.
  Am J Med Genet A Volume: 140A Page(s): 1814 - 1826
  09/01/2006 Authors: Budimirovic DB; Bukelis I; Cox C; Gray RM; Tierney E; Kaufmann WE
• Early progressive encephalopathy in boys and MECP2 mutations.
  Neurology Volume: 67 Page(s): 164 - 166
  07/11/2006 Authors: Kankirawatana P; Leonard H; Ellaway C; Scurlock J; Mansour A; Makris CM; Dure LS; Friez M; Lane J; Kiraly-Borri C
• Diffusion tensor imaging in schizophrenia.
  Biol Psychiatry Volume: 58 Page(s): 921 - 929
  12/15/2005 Authors: Kanaan RAA; Kim J-S; Kaufmann WE; Pearlson GD; Barker GJ; McGuire PK
• MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution.
  Volume: 27 Suppl 1 Page(s): S77 - S87
  11/01/2005 Authors: Kaufmann WE; Johnston MV; Blue ME
• Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation.
  Brain Dev Volume: 27 Page(s): 331 - 339
  08/01/2005 Authors: Kaufmann WE; Jarrar MH; Wang JS; Lee Y-JM; Reddy S; Bibat G; Naidu S
• Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist.
  Am J Med Genet A Volume: 134 Page(s): 373 - 380
  05/01/2005 Authors: Capone GT; Grados MA; Kaufmann WE; Bernad-Ripoll S; Jewell A
• Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
  Arch Neurol Volume: 61 Page(s): 1764 - 1770
  11/01/2004 Authors: Solis C; Martinez-Bermejo A; Naidich TP; Kaufmann WE; Astrin KH; Bishop DF; Desnick RJ
• Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.
  Am J Med Genet A Volume: 129A Page(s): 225 - 234
  09/01/2004 Authors: Kaufmann WE; Cortell R; Kau ASM; Bukelis I; Tierney E; Gray RM; Cox C; Capone GT; Stanard P
• Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1.
  Am J Med Genet A Volume: 129A Page(s): 113 - 119
  08/30/2004 Authors: Kraut MA; Gerring JP; Cooper KL; Thompson RE; Denckla MB; Kaufmann WE
• Social behavior profile in young males with fragile X syndrome: characteristics and specificity.
  Am J Med Genet A Volume: 126A Page(s): 9 - 17
  04/01/2004 Authors: Kau ASM; Tierney E; Bukelis I; Stump MH; Kates WR; Trescher WH; Kaufmann WE
• Asymmetry and gender effect in functionally lateralized cortical regions: a proton MRS imaging study.
  J Magn Reson Imaging Volume: 19 Page(s): 27 - 33
  01/01/2004 Authors: Nagae-Poetscher LM; Bonekamp D; Barker PB; Brant LJ; Kaufmann WE; Horsk A
• MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form.
  J Child Neurol Volume: 18 Page(s): 675 - 682
  10/01/2003 Authors: Jarrar MH; Danko CG; Reddy S; Lee Y-JM; Bibat G; Kaufmann WE
• Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study.
  J Child Neurol Volume: 18 Page(s): 463 - 470
  07/01/2003 Authors: Kaufmann WE; Cooper KL; Mostofsky SH; Capone GT; Kates WR; Newschaffer CJ; Bukelis I; Stump MH; Jann AE; Lanham DC
• Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions.
  Neuroscience Volume: 116 Page(s): 77 - 80
  01/01/2003 Authors: Aber KM; Nori P; MacDonald SM; Bibat G; Jarrar MH; Kaufmann WE
• Histone acetylation in Rett's syndrome lymphocytes: Characteristics and relationship with neurological impairment
  Volume: 54 Page(s): S108 - S108
  01/01/2003 Authors: Kaufmann WE; Jarrar MH; Lee YJM; Bibat G; Reddy S; Naidu S
• MRI parcellation of the frontal lobe in boys with attention deficit hyperactivity disorder or Tourette syndrome.
  Psychiatry Res Volume: 116 Page(s): 63 - 81
  11/30/2002 Authors: Kates WR; Frederikse M; Mostofsky SH; Folley BS; Cooper K; Mazur-Hopkins P; Kofman O; Singer HS; Denckla MB; Pearlson GD
• Megalencephaly in NF1: predominantly white matter contribution and mitigation by ADHD.
  Neurology Volume: 59 Page(s): 1388 - 1394
  11/12/2002 Authors: Cutting LE; Cooper KL; Koth CW; Mostofsky SH; Kates WR; Denckla MB; Kaufmann WE
• Smaller prefrontal and premotor volumes in boys with attention-deficit/hyperactivity disorder.
  Biol Psychiatry Volume: 52 Page(s): 785 - 794
  10/15/2002 Authors: Mostofsky SH; Cooper KL; Kates WR; Denckla MB; Kaufmann WE
• Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets.
  Microsc Res Tech Volume: 57 Page(s): 135 - 144
  05/01/2002 Authors: Kaufmann WE; Cohen S; Sun H-T; Ho G
• Early development in males with Fragile X syndrome: a review of the literature.
  Microsc Res Tech Volume: 57 Page(s): 174 - 178
  05/01/2002 Authors: Kau ASM; Meyer WA; Kaufmann WE
• Neurobiology of Fragile X syndrome: from molecular genetics to neurobehavioral phenotype.
  Microsc Res Tech Volume: 57 Page(s): 131 - 134
  05/01/2002 Authors: Kaufmann WE
• Cerebral growth in Fragile X syndrome: review and comparison with Down syndrome.
  Microsc Res Tech Volume: 57 Page(s): 159 - 167
  05/01/2002 Authors: Kates WR; Folley BS; Lanham DC; Capone GT; Kaufmann WE
• Imaging cortical association tracts in the human brain using diffusion-tensor-based axonal tracking.
  Magn Reson Med Volume: 47 Page(s): 215 - 223
  02/01/2002 Authors: Mori S; Kaufmann WE; Davatzikos C; Stieltjes B; Amodei L; Fredericksen K; Pearlson GD; Melhem ER; Solaiyappan M; Raymond GV
• In vivo quantitative proton MRSI study of brain development from childhood to adolescence.
  J Magn Reson Imaging Volume: 15 Page(s): 137 - 143
  02/01/2002 Authors: Horsk A; Kaufmann WE; Brant LJ; Naidu S; Harris JC; Barker PB
• Disproportionate increases of white matter in right frontal lobe in Tourette syndrome.
  Neurology Volume: 58 Page(s): 85 - 89
  01/08/2002 Authors: Fredericksen KA; Cutting LE; Kates WR; Mostofsky SH; Singer HS; Cooper KL; Lanham DC; Denckla MB; Kaufmann WE
• Role of immediate early gene expression in cortical morphogenesis and plasticity.
  Results Probl Cell Differ Volume: 39 Page(s): 113 - 137
  01/01/2002 Authors: Andreasson KI; Kaufmann WE
• Neuroimaging studies in Rett syndrome.
  Volume: 23 Suppl 1 Page(s): S62 - S71
  12/01/2001 Authors: Naidu S; Kaufmann WE; Abrams MT; Pearlson GD; Lanham DC; Fredericksen KA; Barker PB; Horska A; Golay X; Mori S
• Age-dependent cognitive deficits and neuronal apoptosis in cyclooxygenase-2 transgenic mice.
  J Neurosci Volume: 21 Page(s): 8198 - 8209
  10/15/2001 Authors: Andreasson KI; Savonenko A; Vidensky S; Goellner JJ; Zhang Y; Shaffer A; Kaufmann WE; Worley PF; Isakson P; Markowska AL
• Annexin-1 is abnormally expressed in fragile X syndrome: two-dimensional electrophoresis study in lymphocytes.
  Am J Med Genet Volume: 103 Page(s): 81 - 90
  09/15/2001 Authors: Sun HT; Cohen S; Kaufmann WE
• Diffusion tensor imaging and axonal tracking in the human brainstem.
  Neuroimage Volume: 14 Page(s): 723 - 735
  09/01/2001 Authors: Stieltjes B; Kaufmann WE; van Zijl PC; Fredericksen K; Pearlson GD; Solaiyappan M; Mori S
• Diffusion tensor imaging of the developing mouse brain.
  Magn Reson Med Volume: 46 Page(s): 18 - 23
  07/01/2001 Authors: Mori S; Itoh R; Zhang J; Kaufmann WE; van Zijl PC; Solaiyappan M; Yarowsky P
• Apoptosis, neuronal maturation, and neurotrophin expression within medulloblastoma nodules.
  J Neuropathol Exp Neurol Volume: 60 Page(s): 462 - 469
  05/01/2001 Authors: Eberhart CG; Kaufman WE; Tihan T; Burger PC
• Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis.
  Biol Psychiatry Volume: 49 Page(s): 677 - 684
  04/15/2001 Authors: Kates WR; Burnette CP; Jabs EW; Rutberg J; Murphy AM; Grados M; Geraghty M; Kaufmann WE; Pearlson GD
• Ectopic cerebellum presenting as a suprasellar mass in infancy: implications for cerebellar development.
  Pediatr Dev Pathol Volume: 4 Page(s): 89 - 93
  01/01/2001 Authors: Chang AH; Kaufmann WE; Brat DJ
• Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome.
  Cereb Cortex Volume: 10 Page(s): 992 - 1004
  10/01/2000 Authors: Kaufmann WE; MacDonald SM; Altamura CR
• Dendritic anomalies in disorders associated with mental retardation.
  Cereb Cortex Volume: 10 Page(s): 981 - 991
  10/01/2000 Authors: Kaufmann WE; Moser HW
• Thalamic involvement in neurofibromatosis type 1: evaluation with proton magnetic resonance spectroscopic imaging.
  Ann Neurol Volume: 47 Page(s): 477 - 484
  04/01/2000 Authors: Wang PY; Kaufmann WE; Koth CW; Denckla MB; Barker PB
• In vivo visualization of human neural pathways by magnetic resonance imaging.
  Ann Neurol Volume: 47 Page(s): 412 - 414
  03/01/2000 Authors: Mori S; Kaufmann WE; Pearlson GD; Crain BJ; Stieltjes B; Solaiyappan M; van Zijl PC
• Relationship of cognitive functioning, whole brain volumes, and T2-weighted hyperintensities in neurofibromatosis-1.
  J Child Neurol Volume: 15 Page(s): 157 - 160
  03/01/2000 Authors: Cutting LE; Koth CW; Burnette CP; Abrams MT; Kaufmann WE; Denckla MB
• Quantitative 1H MR spectroscopic imaging in early Rett syndrome.
  Neurology Volume: 54 Page(s): 715 - 722
  02/08/2000 Authors: Horsk A; Naidu S; Herskovits EH; Wang PY; Kaufmann WE; Barker PB
• Automated Talairach atlas-based parcellation and measurement of cerebral lobes in children.
  Psychiatry Res Volume: 91 Page(s): 11 - 30
  07/30/1999 Authors: Kates WR; Warsofsky IS; Patwardhan A; Abrams MT; Liu AM; Naidu S; Kaufmann WE; Reiss AL
• Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome.
  Am J Med Genet Volume: 83 Page(s): 286 - 295
  04/02/1999 Authors: Kaufmann WE; Abrams MT; Chen W; Reiss AL
• Sequential neuromotor examination in children with intrauterine cocaine/polydrug exposure.
  Dev Med Child Neurol Volume: 41 Page(s): 240 - 246
  04/01/1999 Authors: Belcher HM; Shapiro BK; Leppert M; Butz AM; Sellers S; Arch E; Kolodner K; Pulsifer M; Lears MK; Kaufmann WE
• Molecular and cellular genetics of fragile X syndrome.
  Am J Med Genet Volume: 88 Page(s): 11 - 24
  02/05/1999 Authors: Kaufmann WE; Reiss AL
• FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome.
  Am J Med Genet Volume: 82 Page(s): 25 - 30
  01/01/1999 Authors: Abrams MT; Kaufmann WE; Rousseau F; Oostra BA; Wolozin B; Taylor CV; Lishaa N; Morel ML; Hoogeveen A; Reiss AL
• Sequential neuromotor examination of children with intrauterine drug exposure.
  Volume: 846 Page(s): 362 - 364
  06/21/1998 Authors: Belcher HM; Shapiro BK; Leppert M; Butz AM; Sellers S; Arch E; Kolodner K; Pulsifer M; Lears K; Kaufmann WE
• Neuroanatomical and neurocognitive differences in a pair of monozygous twins discordant for strictly defined autism.
  Ann Neurol Volume: 43 Page(s): 782 - 791
  06/01/1998 Authors: Kates WR; Mostofsky SH; Zimmerman AW; Mazzocco MM; Landa R; Warsofsky IS; Kaufmann WE; Reiss AL
• Application of an automated parcellation method to the analysis of pediatric brain volumes.
  Psychiatry Res Volume: 76 Page(s): 15 - 27
  11/28/1997 Authors: Kaplan DM; Liu AM; Abrams MT; Warsofsky IS; Kates WR; White CD; Kaufmann WE; Reiss AL
• Cyclooxygenases and the central nervous system.
  Prostaglandins Volume: 54 Page(s): 601 - 624
  09/01/1997 Authors: Kaufmann WE; Andreasson KI; Isakson PC; Worley PF
• Reliability and validity of MRI measurement of the amygdala and hippocampus in children with fragile X syndrome.
  Psychiatry Res Volume: 75 Page(s): 31 - 48
  08/08/1997 Authors: Kates WR; Abrams MT; Kaufmann WE; Breiter SN; Reiss AL
• Immunoblotting patterns of cytoskeletal dendritic protein expression in human neocortex.
  Mol Chem Neuropathol Volume: 31 Page(s): 235 - 244
  08/01/1997 Authors: Kaufmann WE; Taylor CV; Lishaa NA
• Cyclooxygenase-2 expression during rat neocortical development and in Rett syndrome.
  Brain Dev Volume: 19 Page(s): 25 - 34
  01/01/1997 Authors: Kaufmann WE; Worley PF; Taylor CV; Bremer M; Isakson PC
• Expression of agrin in the developing and adult rat brain.
  Neuroscience Volume: 76 Page(s): 581 - 596
  01/01/1997 Authors: Cohen NA; Kaufmann WE; Worley PF; Rupp F
• Abnormalities in neuronal maturation in Rett syndrome neocortex: preliminary molecular correlates.
  Eur Child Adolesc Psychiatry Volume: 6 Suppl 1 Page(s): 75 - 77
  01/01/1997 Authors: Kaufmann WE; Taylor CV; Hohmann CF; Sanwal IB; Naidu S
• Treatment of epilepsy with multiple subpial transections: an acute histologic analysis in human subjects.
  Epilepsia Volume: 37 Page(s): 342 - 352
  04/01/1996 Authors: Kaufmann WE; Krauss GL; Uematsu S; Lesser RP
• COX-2, a synaptically induced enzyme, is expressed by excitatory neurons at postsynaptic sites in rat cerebral cortex.
  Proc Natl Acad Sci U S A Volume: 93 Page(s): 2317 - 2321
  03/19/1996 Authors: Kaufmann WE; Worley PF; Pegg J; Bremer M; Isakson P
• Neuronal migration abnormality in peroxisomal bifunctional enzyme defect.
  Ann Neurol Volume: 39 Page(s): 268 - 271
  02/01/1996 Authors: Kaufmann WE; Theda C; Naidu S; Watkins PA; Moser AB; Moser HW
• Diagnoses of neuronal ceroid-lipofuscinosis by immunochemical methods.
  Volume: 57 Page(s): 239 - 245
  06/05/1995 Authors: Hosain S; Kaufmann WE; Negrin G; Watkins PA; Siakotos AN; Palmer DN; Naidu S
• Abnormal expression of microtubule-associated protein 2 (MAP-2) in neocortex in Rett syndrome.
  Neuropediatrics Volume: 26 Page(s): 109 - 113
  04/01/1995 Authors: Kaufmann WE; Naidu S; Budden S
• Arc, a growth factor and activity-regulated gene, encodes a novel cytoskeleton-associated protein that is enriched in neuronal dendrites.
  Neuron Volume: 14 Page(s): 433 - 445
  02/01/1995 Authors: Lyford GL; Yamagata K; Kaufmann WE; Barnes CA; Sanders LK; Copeland NG; Gilbert DJ; Jenkins NA; Lanahan AA; Worley PF
• rheb, a growth factor- and synaptic activity-regulated gene, encodes a novel Ras-related protein.
  J Biol Chem Volume: 269 Page(s): 16333 - 16339
  06/10/1994 Authors: Yamagata K; Sanders LK; Kaufmann WE; Yee W; Barnes CA; Nathans D; Worley PF
• Rapid response genes as markers of cellular signaling during cortical histogenesis: their potential in understanding mental retardation.
  Int J Dev Neurosci Volume: 12 Page(s): 263 - 271
  06/01/1994 Authors: Kaufmann WE; Yamagata K; Andreasson KI; Worley PF
• Egr3/Pilot, a zinc finger transcription factor, is rapidly regulated by activity in brain neurons and colocalizes with Egr1/zif268.
  Learn Mem Volume: 1 Page(s): 140 - 152
  01/01/1994 Authors: Yamagata K; Kaufmann WE; Lanahan A; Papapavlou M; Barnes CA; Andreasson KI; Worley PF
• Evidence for neuronal degeneration and dendritic plasticity in cortical pyramidal neurons of Huntington's disease: a quantitative Golgi study.
  Neurology Volume: 43 Page(s): 2088 - 2096
  10/01/1993 Authors: Sotrel A; Williams RS; Kaufmann WE; Myers RH
• Expression of a mitogen-inducible cyclooxygenase in brain neurons: regulation by synaptic activity and glucocorticoids.
  Neuron Volume: 11 Page(s): 371 - 386
  08/01/1993 Authors: Yamagata K; Andreasson KI; Kaufmann WE; Barnes CA; Worley PF
• Intrauterine-onset myoclonic encephalopathy associated with cerebral cortical dysgenesis.
  J Child Neurol Volume: 8 Page(s): 164 - 170
  04/01/1993 Authors: du Plessis AJ; Kaufmann WE; Kupsky WJ
• Cerebrocortical changes in AIDS.
  Lab Invest Volume: 66 Page(s): 261 - 264
  03/01/1992 Authors: Kaufmann WE
• Developmental dyslexia in women: neuropathological findings in three patients.
  Ann Neurol Volume: 28 Page(s): 727 - 738
  12/01/1990 Authors: Humphreys P; Kaufmann WE; Galaburda AM
• Cerebrocortical microdysgenesis in neurologically normal subjects: a histopathologic study.
  Neurology Volume: 39 Page(s): 238 - 244
  02/01/1989 Authors: Kaufmann WE; Galaburda AM