Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability-Reference-Cited by-同舟云学术

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Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Published:2018-12 Issue:1 Volume:11 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Zablotskaya Alena,Van Esch Hilde,Verstrepen Kevin J.,Froyen Guy,Vermeesch Joris R.^ORCID

Funder

Fonds voor Wetenschappelijk Onderzoek - Vlaanderen

Fonds de Soutien Marguerite-Marie Delacroix

KU Leuven

Herculesfoundation

Belgian Science Policy Office Interuniversity Attraction Poles

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12920-018-0446-7.pdf

Reference76 articles.

1. Ropers HH. Genetics of intellectual disability. Curr Opin Genet Dev. 2008;18:241–50.

2. Gécz J, Shoubridge C, Corbett M. The genetic landscape of intellectual disability arising from chromosome X. Trends Genet. 2009;25:308–16.

3. Kleefstra T, Yntema H, Oudakker A, Banning M, Kalscheuer V, Chelly J, Moraine C, Ropers H, Fryns J, Janssen I. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet. 2004;41(5):394–9.

4. de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, et al. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat. 2007;28:207–8.

5. Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, Van Bokhoven H, de Brouwer A, et al. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. Eur J Med Genet. 2007;50:399–410.

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1. Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing;Frontiers in Neurology;2022-03-23

2. Bioinformatics Analysis Revealed Novel 3′UTR Variants Associated with Intellectual Disability;Genes;2020-08-26

3. DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms;Genes;2020-06-22

4. The genetics of intellectual disability: advancing technology and gene editing;F1000Research;2020-01-16

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