Novel CIC variants identified in individuals with neurodevelopmental phenotypes

Author:

Sharma Saloni1,Hourigan Brenna1,Patel Zain1,Rosenfeld Jill A.23ORCID,Chan Katie M.2,Wangler Michael F.2,Yi Joanna S.4,Lehman Anna,Horvath Gabriella5,Cloos Paul A.67,Tan Qiumin1ORCID,

Affiliation:

1. Department of Cell Biology University of Alberta Edmonton Alberta Canada

2. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

3. Baylor Genetics Laboratories Houston Texas USA

4. Department of Pediatrics, Section of Hematology‐Oncology, Texas Children's Cancer and Hematology Centers Baylor College of Medicine Houston Texas USA

5. Division of Biochemical Genetics, Department of Pediatrics University of British Columbia Vancouver British Columbia Canada

6. Biotech Research and Innovation Centre (BRIC) University of Copenhagen Copenhagen Denmark

7. Centre for Epigenetics University of Copenhagen Copenhagen Denmark

Funder

Genome British Columbia

Natural Sciences and Engineering Research Council of Canada

Canadian Institutes of Health Research

Canada Foundation for Innovation

Canada Research Chairs

Institute of Human Development, Child and Youth Health

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Cited by 3 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. CIC variants and folinic acid-responsive seizures;Molecular Genetics and Metabolism;2024-09

2. Genome Sequencing of Idiopathic Speech Delay;Human Mutation;2024-03-28

3. A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder;Molecular Neurobiology;2023-06-06

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