Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Published:2018-09-28 Issue:1 Volume:155 Page:
ISSN:1601-5223
Container-title:Hereditas
language:en
Short-container-title:Hereditas

Author:

Miao Hefan,Zhou Jiapeng,Yang Qi,Liang Fan,Wang Depeng,Ma Na,Gao Bodi,Du Juan,Lin Ge,Wang Kai,Zhang Qianjun

Funder

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s41065-018-0069-1.pdf

Reference45 articles.

1. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016;18(7):678–85.

2. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369(16):1502–11.

3. Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18(7):696–704.

4. Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Koster J, Marais A, Paknia O, Schroder R, Garcia-Aznar JM, Werber M, et al. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet. 2017;25(2):176–82.

5. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. Jama. 2014;312(18):1880–7.

Cited by 51 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. Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia;PLOS ONE;2024-07-18

2. Long-read sequencing for brain tumors;Frontiers in Oncology;2024-06-10

3. Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing;The Journal of Molecular Diagnostics;2024-05

4. An Integrated Approach Including CRISPR/Cas9-Mediated Nanopore Sequencing, Mate Pair Sequencing, and Cytogenomic Methods to Characterize Complex Structural Rearrangements in Acute Myeloid Leukemia;Biomedicines;2024-03-07

5. Long read sequencing on its way to the routine diagnostics of genetic diseases;Frontiers in Genetics;2024-03-06

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

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