Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics–Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory-Reference-Cited by-同舟云学术

Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics–Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory

Published:2022-10 Issue:10 Volume:24 Page:1100-1111
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Drackley Andy^ORCID,Brew Casey,Wlodaver Alissa,Spencer Sara^ORCID,Leuer Katrin,Rathbun Pamela^ORCID,Charrow Joel,Wieneke Xuwen^ORCID,Yap Kai Lee^ORCID,Ing Alexander^ORCID

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference46 articles.

1. Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis;Ionita-Laza;Genomics,2009

2. Copy number variation in human health, disease, and evolution;Zhang;Annu Rev Genomics Hum Genet,2009

3. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities;Manning;Genet Med,2010

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. Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort;Chong;Mol Cytogenet,2014

Cited by 2 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. Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al;Genetics in Medicine;2023-08

2. The uncertainty of copy number variants: pregnancy decisions and clinical follow-up;American Journal of Obstetrics and Gynecology;2023-08