Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

Published:2014-10-13 Issue:2 Volume:88 Page:140-148
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Helsmoortel C.¹^ORCID,Vandeweyer G.¹²,Ordoukhanian P.³,Van Nieuwerburgh F.⁴,Van der Aa N.¹⁵,Kooy R.F.¹

Affiliation:

1. Department of Medical Genetics; University of Antwerp; Antwerp Belgium

2. Biomedical Informatics Research Center Antwerpen (Biomina), Department of Mathematics and Computer Science; University of Antwerp; Antwerp Belgium

3. Next Generation Sequencing Core; The Scripps Research Institute; La Jolla CA USA

4. Laboratory of Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences; Ghent University; Ghent Belgium

5. Department of Medical Genetics; University Hospital Antwerp; Antwerp Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference58 articles.

1. Genetic syndromes among individuals with mental retardation;Stevenson;Am J Med Genet,2003

2. The epidemiology of mental retardation: challenges and opportunities in the new millennium;Leonard;Ment Retard Dev Disabil Res Rev,2002

3. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation;Rauch;Am J Med Genet A,2006

4. Detection and interpretation of genomic structural variation in health and disease;Vandeweyer;Expert Rev Mol Diagn,2013

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. Identification of a DLG3 stop mutation in the MRX20 family;European Journal of Human Genetics;2024-01-25

2. A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype–phenotype correlations;Molecular Genetics & Genomic Medicine;2023-08-21

3. Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism;Clinical Epigenetics;2023-03-21

4. Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4;Human Molecular Genetics;2021-11-12

5. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders;Genetics in Medicine;2019-11

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