S. Folstein

Publications185
h-index81
Citations103,946
Highly Influential Citations7,890
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"Mini-mental state". A practical method for grading the cognitive state of patients for the clinician.
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Comorbid Psychiatric Disorders in Children with Autism: Interview Development and Rates of Disorders
The Kiddie Schedule for Affective Disorders and Schizophrenia was modified for use in children and adolescents with autism by developing additional screening questions and coding options that reflect…
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Functional impact of global rare copy number variation in autism spectrum disorders
TLDR
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
View on Nature
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
TLDR
Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
View on Nature
Head circumference and height in autism: A study by the collaborative program of excellence in autism
TLDR
Mean standardized head circumference and rates of macrocephaly were similar in probands with autism and their parents, and increased head circumference was associated with a higher (more severe) ADI‐R social algorithm score.
View on Wiley
Infantile autism: a genetic study of 21 twin pairs.
  • S. Folstein, M. Rutter
  • Medicine, Psychology
    Journal of child psychology and psychiatry, and…
  • 1 September 1977
TLDR
It was concluded that brain injury in the infancy period may lead to autism on its own or in combination with a genetic predisposition, and uncertainty remains on both the mode of inheritance and exactly what is inherited.
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
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Social language use in parents of autistic individuals.
TLDR
The pragmatic features observed in some autism parents are milder but conceptually similar to the social language deficits of autism, which may be reasons for familial aggregation of pragmatic language deficits.
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Genetics of austim: complex aetiology for a heterogeneous disorder
TLDR
The identification of chromosomal abnormalities and Mendelian syndromes among individuals with autism, in conjunction with data from genome screens and candidate-gene studies, has helped to refine the view of the complex genetics that underlies autism spectrum conditions.
View on Nature
A genome-wide scan for common alleles affecting risk for autism
TLDR
In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8 and, consistent with the winner's curse, its effect size in the replication sample was much smaller.
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