Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability-Reference-Cited by-同舟云学术

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

Published:2018-12-07 Issue:3 Volume:95 Page:436-439
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Thuresson Ann‐Charlotte¹^ORCID,Soussi Zander Cecilia¹,Zhao Jin J.¹,Halvardson Jonatan¹,Maqbool Khurram¹^ORCID,Månsson Else²,Stenninger Eric²,Holmlund Ulrika³,Öhrner Ylva³,Feuk Lars¹

Affiliation:

1. Department of Immunology, Genetics and Pathology, Science for Life LaboratoryUppsala University Uppsala Sweden

2. Department of PediatricsÖrebro University Hospital Örebro Sweden

3. Department of PediatricsVästerås Hospital Västerås Sweden

Funder

Medicinska Forskningsrådet

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13470

Reference5 articles.

1. Exome sequencing revealsNAA15andPUF60as candidate genes associated with intellectual disability

2. Prevalence and architecture of de novo mutations in developmental disorders

3. Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1

4. A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss

5. A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

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