A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

Published:2018-02-11 Issue:4 Volume:93 Page:870-879
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ishida M.¹^ORCID,Cullup T.²,Boustred C.²,James C.¹,Docker J.²,English C.³,Lench N.²⁴,Copp A.J.⁵,Moore G.E.¹,Greene N.D.E.⁵,Stanier P.¹,

Affiliation:

1. Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health; University College London; London UK

2. Great Ormond Street Hospital North East Thames Regional Genetics Service Laboratories; London UK

3. Institute of Genetic Medicine; Newcastle University; Newcastle upon Tyne UK

4. Congenica Ltd; Cambridge UK

5. Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health; University College London; London UK

Funder

Newlife the Charity for Disabled Children

NIHR Great Ormond Street Hospital Biomedical Research Centre

Medical Research Council Canada

Great Ormond Street Hospital Children's Charity

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13189/fullpdf

Reference47 articles.

1. Neural tube defects: recent advances, unsolved questions, and controversies;Copp;Lancet Neurol,2013

2. Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects;Doudney;Am J Med Genet A,2009

3. Causation of neural tube defects: clues from epidemiology;Leck;Br Med Bull,1974

4. An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure;Harris;Birth Defects Res A Clin Mol Teratol,2010

5. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study;MRC Vitamin Study Research Group;Lancet,1991

Cited by 27 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. Anomalies of the Mesenchyme (Meninges and Skull)—Defects of Neural Tube Closure: Cephalocele and Other Calvarial and Skull Base Defects; Intracranial Lipomas; Arachnoid Cysts; Nonsyndromic and Syndromic Craniosynostoses;Journal of Pediatric Neurology;2024-04

2. Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects;Human Genetics;2024-03

3. Identification and Functional Analysis of Rare HECTD1 Missense Variants in Human Neural Tube Defects;2024-01-02

4. Understanding Human Forebrain Morphogenesis and Early Expansion Using Organoids;Neocortical Neurogenesis in Development and Evolution;2023-08-08

5. A quest for genetic causes underlying signaling pathways associated with neural tube defects;Frontiers in Pediatrics;2023-05-22

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