review Open AccessTop 1% cited
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
Brain Research · 2010 · Vol. 1380 · pp. 42–77
Catalina Betancur✉(Centre National de la Recherche Scientifique)
Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersAutismCopy-number variationHeritability of autismGeneticsGenetic heterogeneityExome sequencingEtiologyIntellectual disabilityMedical geneticsBiology
MeSH terms
ChildChild Development Disorders, PervasiveChild, PreschoolHumansInfantMutationPhenotypeGenetic Predisposition to DiseaseGenetic Diseases, Inborn
Citations
956
FWCI
37.62
field-weighted impact
References
397
Percentile
100%
vs. same field & year
Citations per year
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References
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
The American Journal of Human Genetics · 2004 · 760 citations
Advances in autism genetics: on the threshold of a new neurobiology
Nature Reviews Genetics · 2008 · 1,856 citations
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline <i>PTEN</i> tumour suppressor gene mutations
Journal of Medical Genetics · 2005 · 782 citations
Structural Variation of Chromosomes in Autism Spectrum Disorder
The American Journal of Human Genetics · 2008 · 1,832 citations
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
Journal of Medical Genetics · 2005 · 412 citations
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
Journal of Medical Genetics · 2008 · 430 citations
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Journal of Medical Genetics · 2009 · 595 citations
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