The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

doi:10.1002/ajmg.c.31413

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Article

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2014

Vandeweyer Geert, Helsmoortel Céline, Van Dijck Anke, Vulto-van Silfhout Anneke T, Coe Bradley P, Bernier Raphael, Gerdts Jennifer, Rooms Liesbeth, van den Ende Jenneke, Bakshi Madhura, Wilson Meredith, Nordgren Ann, Hendon Laura G, Abdulrahman Omar A, Romano Corrado, de Vries Bert B A, Kleefstra Tjitske, Eichler Evan E, Van der Aa Nathalie, Kooy R Frank

Abstract excerpt

Mutations in ADNP were recently identified as a frequent cause of syndromic autism, characterized by deficits in social communication and interaction and restricted, repetitive behavioral patterns. Based on its functional domains, ADNP is a presumed transcription factor. The gene interacts closely with the SWI/SNF complex by direct and experimentally verified binding of its C-terminus to three of its core...

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PMID: 25169753
DOI: 10.1002/ajmg.c.31413
PMCID: PMC4195434

Genes

ADNP

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

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