Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes-Reference-Cited by-同舟云学术

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

Published:2016-10-17 Issue:11 Volume:170 Page:2916-2926
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zahir Farah R.¹²,Tucker Tracy³,Mayo Sonia⁴,Brown Carolyn J.²,Lim Emilia L.¹,Taylor Jonathan²,Marra Marco A.¹²,Hamdan Fadi F.⁵,Michaud Jacques L.⁵,Friedman Jan M.²

Affiliation:

1. Canada's Michael Smith Genome Sciences Center; Vancouver British Columbia Canada

2. Department of Medical Genetics; University of British Columbia; Vancouver British Columbia Canada

3. Provincial Medical Genetics Programme; Children's and Women's Health Centre of British Columbia; Vancouver British Columbia Canada

4. Unidad de Genética y Diagnóstico Prenatal; Hospital Universitario y Politécnico La Fe. Valencia; Valencia Spain

5. CHU Sainte-Justine Research Center; Montréal Quebec Canada

Funder

Killam Doctoral Scholarship

Child and Family Research Institute Fellowship

NeuroDevNet fellowship

Canadian Institute of Health Research (CIHR)

CIHR Doctoral Award

University of British Columbia Four Year Fellowship

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37669/fullpdf

Reference38 articles.

1. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability;Baroy;Orphanet J Rare Dis,2013

2. Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs;Chen;Am J Hum Genet,2013

3. Diagnostic genome profiling in mental retardation;de Vries;Am J Hum Genet,2005

4. Identification and characterization of three new components of the mSin3A corepressor complex;Fleischer;Mol Cell Biol,2003

5. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500K SNP array genomic hybridization;Friedman;BMC Genomics,2009

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature;International Journal of Molecular Sciences;2023-09-18

2. Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders;Autophagy;2023-09-06

3. CHD6 promotes broad nucleosome eviction for transcriptional activation in prostate cancer cells;Nucleic Acids Research;2022-11-21

4. A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype;Molecular Genetics & Genomic Medicine;2022-08-18

5. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome;Genetics in Medicine;2021-02