• Publications
  • Influence
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broadenExpand
  • 1,263
  • 45
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinicalExpand
  • 625
  • 27
Analysis of neocortex in three males with the fragile X syndrome.
Fragile X [fraX] syndrome is a common hereditary disorder associated with a fragile site marker at Xq27.3 which clinically presents as a form of mental retardation (MR). Postmortem investigation of 3Expand
  • 481
  • 19
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.
The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from fragile X families was surveyed aboutExpand
  • 428
  • 19
The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes
Autism is characterized by a broad spectrum of clinical manifestations including qualitative impairments in social interactions and communication, and repetitive and stereotyped patterns of behavior.Expand
  • 392
  • 16
IL-6 is increased in the cerebellum of autistic brain and alters neural cell adhesion, migration and synaptic formation
BackgroundAlthough the cellular mechanisms responsible for the pathogenesis of autism are not understood, a growing number of studies have suggested that localized inflammation of the central nervousExpand
  • 198
  • 12
Prevalence of Psychotropic Drug Use in Adults with Intellectual Disability: Positive and Negative Findings from a Large Scale Study
The use of psychotropics by categories and the reason for their prescription was investigated in a large scale study of 4,069 adults with ID, including those with autism spectrum disorder, in NewExpand
  • 85
  • 12
Fmr1 knockout mouse has a distinctive strain-specific learning impairment
The Fmr1 gene knockout mouse is a model for the human Fragile X mental retardation syndrome. Fmr1 knockout mice with a C57BL/6-129/OlaHsd hybrid background have been reported to have only a very mildExpand
  • 186
  • 11
Association of autism severity with a monoamine oxidase A functional polymorphism
A functional polymorphism (the upstream variable‐number tandem repeat region, or uVNTR) in the monoamine oxidase A (MAOA) promoter region has been reported to be associated with behavioralExpand
  • 138
  • 11
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.
BACKGROUND AND PURPOSE Our purpose was to characterize the findings of MR imaging of the brain of adult male fragile X premutation carriers with a recently identified disorder characterized byExpand
  • 313
  • 10