Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability-Reference-Cited by-同舟云学术

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Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Published:2020-08-07 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Sabo Aniko¹^ORCID,Murdock David¹,Dugan Shannon¹,Meng Qingchang¹,Gingras Marie‐Claude¹,Hu Jianhong¹,Muzny Donna¹,Gibbs Richard¹^ORCID

Affiliation:

1. Human Genome Sequencing Center Baylor College of Medicine Houston TX USA

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1439

Reference40 articles.

1. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

2. Homozygous single base deletion inTUSC3causes intellectual disability with developmental delay in an Omani family

3. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

4. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation

5. Genetic investigation for adults with intellectual disability

Cited by 5 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. Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome;Medicina;2023-06-29

2. Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics;American Journal of Medical Genetics Part A;2022-11-19

3. Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability;European Journal of Human Genetics;2022-03-23

4. What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?;Annual Review of Medicine;2022-01-27

5. MED13L-related intellectual disability due to paternal germinal mosaicism;Molecular Case Studies;2021-10-15

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