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Article

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Human molecular genetics - 15 Dec 2008

Alvarez Retuerto Ana I, Cantor Rita M, Gleeson Joseph G, Ustaszewska Anna, Schackwitz Wendy S, Pennacchio Len A, Geschwind Daniel H

Abstract excerpt

It has been suggested that autism, like other complex genetic disorders, may benefit from the study of rare or Mendelian variants associated with syndromic or non-syndromic forms of the disease. However, there are few examples in which common variation in genes causing a Mendelian neuropsychiatri...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18782849
DOI: 10.1093/hmg/ddn291
PMCID: PMC2638573

Genes

AHI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18782849-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of common variants in the Joubert syndrome gene (AHI1) with autism.PMID 18782849Read ↗

Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence.Semantic proximity Read ↗

AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia.Semantic proximity Read ↗

A cis-eQTL in AHI1 confers risk to schizophrenia in European populations.Semantic proximity Read ↗

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.Semantic proximity Read ↗

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.Semantic proximity Read ↗

Impact of the AHI1 gene on the vulnerability to schizophrenia: a case-control association study.Semantic proximity Read ↗

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.Semantic proximity Read ↗

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.Semantic proximity Read ↗

A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.Semantic proximity Read ↗

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.Semantic proximity Read ↗

[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].Semantic proximity Read ↗

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.Semantic proximity Read ↗

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