Exome sequencing revealsNAA15andPUF60as candidate genes associated with intellectual disability-Reference-Cited by-同舟云学术

Exome sequencing revealsNAA15andPUF60as candidate genes associated with intellectual disability

Published:2017-10-09 Issue:1 Volume:177 Page:10-20
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zhao Jin J.¹^ORCID,Halvardson Jonatan¹,Zander Cecilia S.¹,Zaghlool Ammar¹,Georgii-Hemming Patrik¹²,Månsson Else³,Brandberg Göran⁴,Sävmarker Helena E.⁵,Frykholm Carina¹,Kuchinskaya Ekaterina⁶,Thuresson Ann-Charlotte¹,Feuk Lars¹

Affiliation:

1. Department of Immunology; Genetics and Pathology; Science for Life Laboratory Uppsala; Uppsala University; Uppsala Sweden

2. Department of Molecular Medicine and Surgery; Karolinska Institute; Karolinska University Hospital Solna; Stockholm Sweden

3. Department of Pediatrics; Örebro University Hospital; Örebro Sweden

4. Pediatric Clinic; Falun Sweden

5. Department of Pediatrics; Gävle Hospital; Gävle Sweden

6. Department of Clinical Genetics, and Department of Clinical Medicine; Linköping University; Linköping Sweden

Funder

European Research Council

Medicinska Forskningsrådet

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics(clinical)

Reference39 articles.

1. Intellectual Disability: Definition, Classification, and Systems of Supports

2. Identification and characterization of the human ARD1-NATH protein acetyltransferase complex;Arnesen;Biochemical Journal,2005

3. NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment;Casey;Scientific Reports,2015

4. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant;Dauber;American Journal of Human Genetics,2013

5. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;New England Journal of Medicine,2012

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