Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype
Author:
Affiliation:
1. Harvard Medical School; Boston; MA; USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference41 articles.
1. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011
2. Clinical utility of contemporary molecular cytogenetics;Bejjani;Annu Rev Genomics Hum Genet,2008
3. Clinical application of exome sequencing in undiagnosed genetic conditions;Need;J Med Genet,2012
4. Fast and accurate short read alignment with Burrows-Wheeler transform;Li;Bioinformatics,2009
5. The genome analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data;McKenna;Genome Res,2010
Cited by 33 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. Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study;Molecular Cytogenetics;2024-01-30
2. Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing;Scientific Reports;2024-01-25
3. Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature;Global Medical Genetics;2024-01
4. Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses;Molecular Cytogenetics;2023-12-06
5. Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes;Frontiers in Genetics;2023-10-04
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
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3