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Article

The landscape of copy number variations in Finnish families with autism spectrum disorders.

Autism research : official journal of the International Society for Autism Research - 1 Jan 2016

Kanduri Chakravarthi, Kantojärvi Katri, Salo Paula M, Vanhala Raija, Buck Gemma, Blancher Christine, Lähdesmäki Harri, Järvelä Irma

Abstract excerpt

Rare de novo and inherited copy number variations (CNVs) have been implicated in autism spectrum disorder (ASD) risk. However, the genetic underpinnings of ASD remain unknown in more than 80% of cases. Therefore, identification of novel candidate genes and corroboration of known candidate genes may broaden the horizons of determining genetic risk alleles, and subsequent development of diagnostic testing. Here,...

Read the complete abstract on PubMed

Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

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Share to CHRNA7 gene

Share to Genetic Predisposition to Disease

Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 26052927
DOI: 10.1002/aur.1502

Genes

BDKRB1
BDKRB2
CHRNA7
DISC1
FHIT
GSTM1
LILRB3
PLCD3
RBFOX1
RPS9
SPTA1
UQCRC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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