Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Genetics (clinical),Molecular Biology,Biochemistry
Reference5 articles.
1. Chromosomal aberrations in pediatric patients with developmental delay/intellectual disability: a single-center clinical investigation;Hu;BioMed Res Int,2019
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3. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am J Hum Genet,2010
4. Expert consensus on the application of low-depth whole genome sequencing in prenatal diagnosis;Clinical Genetics Group Of Medical Genetics Branch Chinese Medical Association;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2019
5. Loss-of-function variants in HIVEP2 are a cause of intellectual disability;Srivastava;Eur J Hum Genet,2016
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