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Article

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jan 2018

Zhao Jin J, Halvardson Jonatan, Zander Cecilia S, Zaghlool Ammar, Georgii-Hemming Patrik, Månsson Else, Brandberg Göran, Sävmarker Helena E, Frykholm Carina, Kuchinskaya Ekaterina, Thuresson Ann-Charlotte, Feuk Lars

Abstract excerpt

Intellectual Disability (ID) is a clinically heterogeneous condition that affects 2-3% of population worldwide. In recent years, exome sequencing has been a successful strategy for studies of genetic causes of ID, providing a growing list of both candidate and validated ID genes. In this study, exome sequencing was performed on 28 ID patients in 27 patient-parent trios with the aim to identify de novo variants...

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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: 28990276
DOI: 10.1002/ajmg.b.32574
PMCID: PMC5765476

Genes

NAA15
PUF60

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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