Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases-Reference-Cited by-同舟云学术

Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

Published:2023-03 Issue:3 Volume:25 Page:175-188
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Iqbal M. Anwar,Broeckel Ulrich,Levy Brynn,Skinner Steven,Sahajpal Nikhil S.,Rodriguez Vanessa,Stence Aaron,Awayda Kamel,Scharer Gunter^ORCID,Skinner Cindy,Stevenson Roger^ORCID,Bossler Aaron^ORCID,Nagy Peter L.^ORCID,Kolhe Ravindra^ORCID

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference34 articles.

1. Prevalence and trends of developmental disabilities among children in the United States: 2009-2017;Zablotsky;Pediatrics,2019

2. An integrated map of structural variation in 2,504 human genomes;Sudmant;Nature,2015

3. Chromosomal microarray testing for children with unexplained neurodevelopmental disorders;Martin;JAMA,2017

4. 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

5. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities [published correction appears in Genet Med. 2020 Dec;22(12):2126];Manning;Genet Med,2010

Cited by 21 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. A 10-Year Review on Advancements in Identifying and Treating Intellectual Disability Caused by Genetic Variations;Genes;2024-08-24

2. Enhanced resolution of optical genome mapping utilizing telomere-to-telomere reference in genetic disorders;2024-07-19

3. Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder;American Journal of Medical Genetics Part A;2024-07-16

4. Optical Genome Mapping for Applications in Repeat Expansion Disorders;Current Protocols;2024-07

5. Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing;The Journal of Molecular Diagnostics;2024-07