Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part II, Reporting and Interpretation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part II, Reporting and Interpretation

Published:2023-07-01 Issue:3 Volume:13 Page:154-164
ISSN:2093-6338
Container-title:Laboratory Medicine Online
language:en
Short-container-title:Lab Med Online

Author:

Won Dongju¹,Seol Chang Ahn²³,Ha Jung-Sook⁴,Kim In-Suk⁵^ORCID

Affiliation:

1. Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea

2. GC Genome, Yongin, Korea

3. GC Labs, Yongin, Korea

4. Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea

5. Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Korea

Funder

Korean Society for Genetic Diagnostics

Publisher

Laboratory Medicine Online

Subject

General Medicine

Link

http://pdf.medrang.co.kr/LMO/2023/013/lmo-13-3-154.pdf

Reference8 articles.

1. 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)

2. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

3. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

4. Variants of unknown significance on chromosomal microarray analysis: parental perspectives

5. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP