Information

Related Research Units

Psychology Research
Tommy Fuss Center Research

Publications

  1. Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease. Orphanet J Rare Dis. 2026 Apr 03; 21(1). View Abstract
  2. Catatonia in Autism and Neurodevelopmental Disorders: A Scoping Review for Advancing Identification, Practice, and Research. J Am Acad Child Adolesc Psychiatry. 2026 Mar 25. View Abstract
  3. Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment. Ther Innov Regul Sci. 2026 May; 60(3):674-682. View Abstract
  4. Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder. J Inherit Metab Dis. 2026 Mar; 49(2):e70148. View Abstract
  5. Leveraging clinical sleep data across multiple pediatric cohorts for insights into neurodevelopment: the Retrospective Analysis of Sleep in Pediatric (RASP) cohorts study. Sleep. 2026 Feb 10; 49(2). View Abstract
  6. AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial. N Engl J Med. 2026 Mar 26; 394(12):1184-1194. View Abstract
  7. Developing Meaningful Score Differences for the Bayley-4 and Vineland-3 in Angelman Syndrome Using a Delphi Panel. Value Health. 2026 Jan 05. View Abstract
  8. In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome. Child Neuropsychol. 2025 Dec 23; 1-20. View Abstract
  9. The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics. Am J Ophthalmol. 2026 Feb; 282:345-357. View Abstract
  10. Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. Pediatr Neurol. 2026 Feb; 175:8-18. View Abstract
  11. The Developmental Assessment of Social Communication Ability (DASCA): initial creation and psychometric description. Mol Autism. 2025 10 16; 16(1):52. View Abstract
  12. Ages of sitting and walking milestone attainment in typically developing children worldwide: protocol for a scoping review. BMJ Open. 2025 Sep 11; 15(9):e100567. View Abstract
  13. Genetic Testing Among Medicaid-Insured Children With Autism and Intellectual Disability. JAMA Netw Open. 2025 Sep 02; 8(9):e2533518. View Abstract
  14. Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome. Am J Intellect Dev Disabil. 2025 09 01; 130(5):380-394. View Abstract
  15. Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints. Am J Intellect Dev Disabil. 2025 09 01; 130(5):414-437. View Abstract
  16. Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome. Am J Intellect Dev Disabil. 2025 09 01; 130(5):362-379. View Abstract
  17. Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs. Am J Intellect Dev Disabil. 2025 09 01; 130(5):395-413. View Abstract
  18. Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change. Am J Intellect Dev Disabil. 2025 09 01; 130(5):344-361. View Abstract
  19. Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis. bioRxiv. 2025 Aug 18. View Abstract
  20. AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial. medRxiv. 2025 Jul 29. View Abstract
  21. Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program. Am J Med Genet B Neuropsychiatr Genet. 2025 12; 198(8):230-240. View Abstract
  22. Medicaid claims from 2008 to 2016 indicate low rates of genetic testing among children with intellectual disability and autism spectrum disorder. Genet Med. 2025 Aug; 27(8):101451. View Abstract
  23. Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale. J Child Neurol. 2026 Jan; 41(1):43-53. View Abstract
  24. Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome. Am J Med Genet B Neuropsychiatr Genet. 2025 10; 198(7):126-134. View Abstract
  25. Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns. J Neurodev Disord. 2025 Apr 30; 17(1):25. View Abstract
  26. A tutorial on person ability scores for the IDD clinician. Int J Dev Disabil. 2025 Apr 12. View Abstract
  27. The interplay between brain and behavior during development: A multisite effort to generate and share simulated datasets. Sci Data. 2025 Mar 21; 12(1):473. View Abstract
  28. DSM-5 based algorithms for the Autism Diagnostic Interview-Revised for children ages 4-17?years. J Child Psychol Psychiatry. 2025 Sep; 66(9):1403-1413. View Abstract
  29. Differences in sleep EEG coherence and spindle metrics in toddlers with and without receptive/expressive language delay: a prospective observational study. J Neurodev Disord. 2025 Feb 22; 17(1):11. View Abstract
  30. The Aberrant Behavior Checklist for Fragile X Syndrome: A Qualitative Clinician Evaluation of Content Validity. J Child Adolesc Psychopharmacol. 2025 Sep; 35(7):399-415. View Abstract
  31. Brain morphometry of toddlers with language delay: An exploratory study. Infant Child Dev. 2025 Jan-Feb; 34(1). View Abstract
  32. Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline. Pediatr Res. 2025 Aug; 98(2):541-550. View Abstract
  33. Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. Am J Med Genet A. 2025 01; 197(1):e63872. View Abstract
  34. Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108570. View Abstract
  35. Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG). J Inherit Metab Dis. 2025 01; 48(1):e12782. View Abstract
  36. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. J Neurodev Disord. 2024 May 10; 16(1):25. View Abstract
  37. Spindle chirp and other sleep oscillatory features in young children with autism. Sleep Med. 2024 07; 119:320-328. View Abstract
  38. GM1 gangliosidosis type II: Results of a 10-year prospective study. Genet Med. 2024 Jul; 26(7):101144. View Abstract
  39. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome. Clin Genet. 2024 05; 105(5):459-469. View Abstract
  40. Differences in Sleep EEG Coherence and Spindle Metrics in Toddlers With and Without Language Delay: A Prospective Observational Study. Res Sq. 2024 Feb 14. View Abstract
  41. Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology. Mol Psychiatry. 2024 Apr; 29(4):974-981. View Abstract
  42. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024 Jan 05; 52(D1):D1333-D1346. View Abstract
  43. Differential Diagnosis of Autism and Other Neurodevelopmental Disorders. Pediatr Clin North Am. 2024 04; 71(2):157-177. View Abstract
  44. GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study. medRxiv. 2024 Jan 04. View Abstract
  45. Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation. Am J Med Genet A. 2024 02; 194(2):337-345. View Abstract
  46. Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency". Mol Genet Metab Rep. 2023 Dec; 37:101013. View Abstract
  47. Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency. Mol Genet Metab Rep. 2023 Dec; 37:101001. View Abstract
  48. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. View Abstract
  49. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nat Genet. 2023 07; 55(7):1149-1163. View Abstract
  50. Brain proton MR spectroscopy measurements in CLN3 disease. Mol Genet Metab. 2023 05; 139(1):107584. View Abstract
  51. Posterior superior temporal cortex connectivity is related to social communication in toddlers. Infant Behav Dev. 2023 05; 71:101831. View Abstract
  52. Attainment and loss of early social-communication skills across neurodevelopmental conditions in the Norwegian Mother, Father and Child Cohort Study. J Child Psychol Psychiatry. 2024 05; 65(5):610-619. View Abstract
  53. Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome. Brain. 2023 03 01; 146(3):968-976. View Abstract
  54. Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome. J Neurodev Disord. 2023 02 20; 15(1):8. View Abstract
  55. CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions. Mol Autism. 2023 02 14; 14(1):7. View Abstract
  56. Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study. J Neurodev Disord. 2023 01 17; 15(1):4. View Abstract
  57. Social-interactive reward elicits similar neural response in autism and typical development and predicts future social experiences. Dev Cogn Neurosci. 2023 02; 59:101197. View Abstract
  58. Disentangling global and domain-level adaptive behavior trajectories among children with autism spectrum disorder. J Child Psychol Psychiatry. 2023 06; 64(6):868-875. View Abstract
  59. Pain research and children and adolescents with severe intellectual disability: ethical challenges and imperatives. Lancet Child Adolesc Health. 2023 04; 7(4):288-296. View Abstract
  60. NIH Toolbox Cognition Battery Feasibility in Individuals With Williams Syndrome. Am J Intellect Dev Disabil. 2022 11 01; 127(6):473-484. View Abstract
  61. DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care. Pediatr Neurol. 2023 01; 138:87-94. View Abstract
  62. Corrigendum: Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders. Front Psychol. 2022; 13:1051464. View Abstract
  63. Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome. HGG Adv. 2023 01 12; 4(1):100145. View Abstract
  64. On Terms: What's in a Name? Intellectual Disability and "Condition," "Disorder," "Syndrome," "Disease," and "Disability". Am J Intellect Dev Disabil. 2022 09 01; 127(5):349-354. View Abstract
  65. Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders. Front Psychol. 2022; 13:927847. View Abstract
  66. How do 3-year-olds do on the NIH Toolbox Cognitive Battery? Child Neuropsychol. 2023 05; 29(4):521-542. View Abstract
  67. Insufficient evidence for inclusion of motor deficits in the ASD diagnostic criteria: A response to Bhat (2021). Autism Res. 2022 08; 15(8):1374-1375. View Abstract
  68. Word imageability is associated with expressive vocabulary in children with autism spectrum disorder. Autism Dev Lang Impair. 2022 Jan-Dec; 7:23969415221085827. View Abstract
  69. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Hum Mol Genet. 2022 02 21; 31(4):625-637. View Abstract
  70. Phelan-McDermid syndrome: a classification system after 30 years of experience. Orphanet J Rare Dis. 2022 01 29; 17(1):27. View Abstract
  71. Use of the Vineland-3, a measure of adaptive functioning, in CLN3. Am J Med Genet A. 2022 04; 188(4):1056-1064. View Abstract
  72. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53. View Abstract
  73. Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA). Genet Med. 2021 Nov; 23(11):2233. View Abstract
  74. Making Research Possible: Barriers and Solutions For Those With ASD and ID. J Autism Dev Disord. 2022 Oct; 52(10):4646-4650. View Abstract
  75. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Hum Genet. 2021 Dec; 140(12):1709-1731. View Abstract
  76. The contribution of platelets to peripheral BDNF elevation in children with autism spectrum disorder. Sci Rep. 2021 09 13; 11(1):18158. View Abstract
  77. Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries. J Child Psychol Psychiatry. 2021 11; 62(11):1297-1307. View Abstract
  78. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report. Ann N Y Acad Sci. 2021 12; 1506(1):5-17. View Abstract
  79. Systematic Review: Recommendations for Rehabilitation in ASD and ID From Clinical Practice Guidelines. Arch Rehabil Res Clin Transl. 2021 Sep; 3(3):100140. View Abstract
  80. A novel measure of matching categories for early development: Item creation and pilot feasibility study. Res Dev Disabil. 2021 Aug; 115:103993. View Abstract
  81. Inclusion of individuals with low IQ in drug development for autism spectrum disorder. Eur Neuropsychopharmacol. 2021 07; 48:37-39. View Abstract
  82. Severity modeling of propionic acidemia using clinical and laboratory biomarkers. Genet Med. 2021 08; 23(8):1534-1542. View Abstract
  83. The Early Screening for Autism and Communication Disorders: Field-testing an autism-specific screening tool for children 12 to 36 months of age. Autism. 2021 10; 25(7):2112-2123. View Abstract
  84. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021 04 28; 12(1):29. View Abstract
  85. 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA). Genet Med. 2021 08; 23(8):1522-1533. View Abstract
  86. Prerequisite Skills in Cognitive Testing: Innovations in theory and recommendations for practice. Cogn Dev. 2021 Apr-Jun; 58. View Abstract
  87. Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures. J Inherit Metab Dis. 2021 07; 44(4):1013-1020. View Abstract
  88. Characterizing upper limb function in the context of activities of daily living in CLN3 disease. Am J Med Genet A. 2021 05; 185(5):1399-1413. View Abstract
  89. Age of walking and intellectual ability in autism spectrum disorder and other neurodevelopmental disorders: a population-based study. J Child Psychol Psychiatry. 2021 09; 62(9):1070-1078. View Abstract
  90. Outcome Measures for Core Symptoms of Intellectual Disability: State of the Field. Am J Intellect Dev Disabil. 2020 11 01; 125(6):418-433. View Abstract
  91. 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 Abstract
  92. Dr. Bishop et al. Reply. J Am Acad Child Adolesc Psychiatry. 2020 11; 59(11):1200-1202. View Abstract
  93. Chromoanasynthesis as a cause of Jacobsen syndrome. Am J Med Genet A. 2020 11; 182(11):2533-2539. View Abstract
  94. Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul; 41(5):388-396. View Abstract
  95. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396. View Abstract
  96. Sex differences in scores on standardized measures of autism symptoms: a multisite integrative data analysis. J Child Psychol Psychiatry. 2021 01; 62(1):97-106. View Abstract
  97. A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y. Neuron. 2020 06 03; 106(5):759-768.e7. View Abstract
  98. Functional near-infrared spectroscopy in toddlers: Neural differentiation of communicative cues and relation to future language abilities. Dev Sci. 2020 11; 23(6):e12948. View Abstract
  99. Practice guideline: Treatment for insomnia and disrupted sleep behavior in children and adolescents with autism spectrum disorder: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. 2020 03 03; 94(9):392-404. View Abstract
  100. Psychiatric illness and regression in individuals with Phelan-McDermid syndrome. J Neurodev Disord. 2020 02 12; 12(1):7. View Abstract
  101. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31. View Abstract
  102. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020 02 06; 180(3):568-584.e23. View Abstract
  103. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019 10; 25(10):1477-1487. View Abstract
  104. Incontinence in Phelan-McDermid Syndrome. J Pediatr Gastroenterol Nutr. 2019 08; 69(2):e39-e42. View Abstract
  105. State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder. Front Psychiatry. 2019; 10:526. View Abstract
  106. Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles. Am J Med Genet A. 2019 10; 179(10):2132-2137. View Abstract
  107. Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-ß-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1. CNS Drugs. 2019 07; 33(7):677-683. View Abstract
  108. The Need for a Developmentally Based Measure of Social Communication Skills. J Am Acad Child Adolesc Psychiatry. 2019 06; 58(6):555-560. View Abstract
  109. Haploinsufficiency of the brain-derived neurotrophic factor gene is associated with reduced pain sensitivity. Pain. 2019 05; 160(5):1070-1081. View Abstract
  110. Large-scale analyses of the relationship between sex, age and intelligence quotient heterogeneity and cortical morphometry in autism spectrum disorder. Mol Psychiatry. 2020 03; 25(3):614-628. View Abstract
  111. Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment. PLoS One. 2019; 14(3):e0213921. View Abstract
  112. Functional brain connectivity in electrical status epilepticus in sleep. Epileptic Disord. 2019 Feb 01; 21(1):55-64. View Abstract
  113. Early Indicators of Creatine Transporter Deficiency. J Pediatr. 2019 03; 206:283-285. View Abstract
  114. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Am J Med Genet A. 2018 12; 176(12):2768-2776. View Abstract
  115. Talking About Death or Suicide: Prevalence and Clinical Correlates in Youth with Autism Spectrum Disorder in the Psychiatric Inpatient Setting. J Autism Dev Disord. 2018 Nov; 48(11):3702-3710. View Abstract
  116. Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome. J Neurodev Disord. 2018 10 22; 10(1):30. View Abstract
  117. Cerebrospinal fluid vasopressin and symptom severity in children with autism. Ann Neurol. 2018 10; 84(4):611-615. View Abstract
  118. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. View Abstract
  119. SOCIOEMOTIONAL AND BEHAVIORAL PROBLEMS IN TODDLERS WITH LANGUAGE DELAY. Infant Ment Health J. 2018 09; 39(5):569-580. View Abstract
  120. Spindle activity in young children with autism, developmental delay, or typical development. Neurology. 2018 07 10; 91(2):e112-e122. View Abstract
  121. Trajectories of cognitive development in toddlers with language delays. Res Dev Disabil. 2018 Oct; 81:65-72. View Abstract
  122. Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome. Epilepsy Behav. 2018 03; 80:312-320. View Abstract
  123. Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. Eur J Hum Genet. 2018 03; 26(3):293-302. View Abstract
  124. Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism. J Neurodev Disord. 2018 01 05; 10(1):1. View Abstract
  125. Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome. Clin Neuropsychol. 2018 Aug - Oct; 32(7):1226-1255. View Abstract
  126. Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms. Autism Res. 2018 02; 11(2):212-222. View Abstract
  127. Cover Image, Volume 173A, Number 12, December 2017. Am J Med Genet A. 2017 Dec; 173(12):i. View Abstract
  128. Defective ciliogenesis in INPP5E-related Joubert syndrome. Am J Med Genet A. 2017 Dec; 173(12):3231-3237. View Abstract
  129. Describing Function in ASD: Using the DSM-5 and Other Methods to Improve Precision. J Autism Dev Disord. 2017 09; 47(9):2938-2941. View Abstract
  130. Intrathecal 2-hydroxypropyl-ß-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 Abstract
  131. In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics. Genet Med. 2018 01; 20(1):14-23. View Abstract
  132. Prefrontal Activation During Executive Tasks Emerges Over Early Childhood: Evidence From Functional Near Infrared Spectroscopy. Dev Neuropsychol. 2017; 42(4):253-264. View Abstract
  133. Prefrontal Hemodynamics in Toddlers at Rest: A Pilot Study of Developmental Variability. Front Neurosci. 2017; 11:300. View Abstract
  134. Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder. Am J Psychiatry. 2017 06 01; 174(6):576-585. View Abstract
  135. Modelling gesture use and early language development in autism spectrum disorder. Int J Lang Commun Disord. 2017 09; 52(5):637-651. View Abstract
  136. Serum and cerebrospinal fluid immune mediators in children with autistic disorder: a longitudinal study. Mol Autism. 2017; 8:1. View Abstract
  137. Effects of Oxytocin and Vasopressin on Preferential Brain Responses to Negative Social Feedback. Neuropsychopharmacology. 2017 Jun; 42(7):1409-1419. View Abstract
  138. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genet Med. 2017 02; 19(2):160-168. View Abstract
  139. Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons. Mol Neurobiol. 2017 08; 54(6):4507-4523. View Abstract
  140. CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism. Neurology. 2016 06 14; 86(24):2258-63. View Abstract
  141. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. J Dev Behav Pediatr. 2016 05; 37(4):322-6. View Abstract
  142. Cortical thickness change in autism during early childhood. Hum Brain Mapp. 2016 07; 37(7):2616-29. View Abstract
  143. Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. J Neurodev Disord. 2016; 8:12. View Abstract
  144. Autism Spectrum Disorder, Intellectual Disability, and Delayed Walking. Pediatrics. 2016 Mar; 137(3):e20152959. View Abstract
  145. Prospective Longitudinal Studies of Infant Siblings of Children With Autism: Lessons Learned and Future Directions. J Am Acad Child Adolesc Psychiatry. 2016 Mar; 55(3):179-87. View Abstract
  146. No Evidence of Antibodies against GAD65 and Other Specific Antigens in Children with Autism. BBA Clin. 2015 Dec 01; 4:81-84. View Abstract
  147. Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1. Dev Med Child Neurol. 2016 Mar; 58(3):262-9. View Abstract
  148. State-Dependent Differences in Functional Connectivity in Young Children With Autism Spectrum Disorder. EBioMedicine. 2015 Dec; 2(12):1905-15. View Abstract
  149. Evaluation of Periodic Limb Movements in Sleep and Iron Status in Children With Autism. Pediatr Neurol. 2015 Oct; 53(4):343-9. View Abstract
  150. Convergent and divergent validity of the Mullen Scales of Early Learning in young children with and without autism spectrum disorder. Psychol Assess. 2015 Dec; 27(4):1364-78. View Abstract
  151. MED23-associated intellectual disability in a non-consanguineous family. Am J Med Genet A. 2015 Jun; 167(6):1374-80. View Abstract
  152. Measurement of nonverbal IQ in autism spectrum disorder: scores in young adulthood compared to early childhood. J Autism Dev Disord. 2015 Apr; 45(4):966-74. View Abstract
  153. Concurrent validity of the differential ability scales, second edition with the Mullen Scales of Early Learning in young children with and without neurodevelopmental disorders. Child Neuropsychol. 2016; 22(5):556-69. View Abstract
  154. Social (pragmatic) communication disorder: a research review of this new DSM-5 diagnostic category. J Neurodev Disord. 2014; 6(1):41. View Abstract
  155. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. Am J Med Genet A. 2014 Nov; 164A(11):2892-900. View Abstract
  156. Longitudinal study of symptom severity and language in minimally verbal children with autism. J Child Psychol Psychiatry. 2015 Jan; 56(1):97-104. View Abstract
  157. Treating the whole person with autism: the proceedings of the Autism Speaks National Autism Conference. Curr Probl Pediatr Adolesc Health Care. 2014 Feb; 44(2):26-47. View Abstract
  158. Depressive symptoms in young, urban schoolchildren: environmental, social, and cognitive risk. J Prev Interv Community. 2014; 42(3):169-82. View Abstract
  159. Patterns of skill attainment and loss in young children with autism. Dev Psychopathol. 2014 Feb; 26(1):203-14. View Abstract
  160. Dietary adequacy of children with autism compared with controls and the impact of restricted diet. J Dev Behav Pediatr. 2013 Sep; 34(7):449-59. View Abstract
  161. Repetitive behavior and restricted interests in young children with autism: comparisons with controls and stability over 2 years. Autism Res. 2013 Dec; 6(6):584-95. View Abstract
  162. Multisite study of new autism diagnostic interview-revised (ADI-R) algorithms for toddlers and young preschoolers. J Autism Dev Disord. 2013 Jul; 43(7):1527-38. View Abstract
  163. Compared to what? Early brain overgrowth in autism and the perils of population norms. Biol Psychiatry. 2013 Oct 15; 74(8):563-75. View Abstract
  164. Lack of serum antibodies against Borrelia burgdorferi in children with autism. Clin Vaccine Immunol. 2013 Jul; 20(7):1092-3. View Abstract
  165. A pilot open-label trial of minocycline in patients with autism and regressive features. J Neurodev Disord. 2013; 5(1):9. View Abstract
  166. Pharmacotherapy for the core symptoms in autistic disorder: current status of the research. Drugs. 2013 Mar; 73(4):303-14. View Abstract
  167. Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome. Cortex. 2013 Nov-Dec; 49(10):2700-10. View Abstract
  168. First night effect analysis in a cohort of young children with autism spectrum disorder. J Clin Sleep Med. 2013 Jan 15; 9(1):67-70. View Abstract
  169. Mapping cortical anatomy in preschool aged children with autism using surface-based morphometry. Neuroimage Clin. 2012; 2:111-9. View Abstract
  170. The importance of autism research. Dialogues Clin Neurosci. 2012 Sep; 14(3):219-22. View Abstract
  171. Diffusion tensor imaging in young children with autism: biological effects and potential confounds. Biol Psychiatry. 2012 Dec 15; 72(12):1043-51. View Abstract
  172. The ADOS calibrated severity score: relationship to phenotypic variables and stability over time. Autism Res. 2012 Aug; 5(4):267-76. View Abstract
  173. A magnetization transfer imaging study of corpus callosum myelination in young children with autism. Biol Psychiatry. 2012 Aug 01; 72(3):215-20. View Abstract
  174. Brief report: symptom onset patterns and functional outcomes in young children with autism spectrum disorders. J Autism Dev Disord. 2011 Dec; 41(12):1727-32. View Abstract
  175. An open label trial of donepezil for enhancement of rapid eye movement sleep in young children with autism spectrum disorders. J Child Adolesc Psychopharmacol. 2011 Aug; 21(4):353-7. View Abstract
  176. Observations on intelligence and behavior in 15 patients with Legius syndrome. Am J Med Genet C Semin Med Genet. 2011 May 15; 157C(2):123-8. View Abstract
  177. Rapid eye movement sleep percentage in children with autism compared with children with developmental delay and typical development. Arch Pediatr Adolesc Med. 2010 Nov; 164(11):1032-7. View Abstract
  178. Risks of propofol sedation/anesthesia for imaging studies in pediatric research: eight years of experience in a clinical research center. Arch Pediatr Adolesc Med. 2010 Jun; 164(6):554-60. View Abstract
  179. Testing autism interventions: trials and tribulations. Lancet. 2010 Jun 19; 375(9732):2124-5. View Abstract
  180. Executive and attention functioning among children in the PANDAS subgroup. Child Neuropsychol. 2009 Mar; 15(2):179-94. View Abstract
  181. Depressive symptoms among reservation-based pregnant American Indian adolescents. Matern Child Health J. 2008 Jul; 12 Suppl 1:110-8. View Abstract
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