CLTC as a clinically novel gene associated with multiple malformations and developmental delay
Author:
Affiliation:
1. Department of Pediatrics; Section of Medical Genetics; SUNY Upstate Medical University; Syracuse New York
2. Ambry Genetics Corporation; Aliso Viejo California
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37506/fullpdf
Reference46 articles.
1. National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and management, October 16-18, 2000;Pediatrics,2001
2. A map of human genome variation from population-scale sequencing;Abecasis;Nature,2010
3. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010
4. A role for silent synapses in the development of the pathway from layer 2/3 to 5 pyramidal cells in the neocortex;Anastasiades;J Neurosci,2012
5. Whole exome capture in solution with 3 Gbp of data;Bainbridge;Genome Biol,2010
Cited by 32 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. A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities;BMC Medical Genomics;2023-12-18
2. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04
3. Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy;Nature Communications;2023-08-30
4. Comparative Genomic Analysis Identifies Great–Ape–Specific Structural Variants and Their Evolutionary Relevance;Molecular Biology and Evolution;2023-08
5. Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC‐Deficient Patient;Movement Disorders Clinical Practice;2023-07-19
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