AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
Author:
Affiliation:
1. Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany
2. Berlin Institute of Health at Charité—Universitätsmedizin Berlin, Center of Functional Genomics Berlin Germany
Funder
Deutsche Forschungsgemeinschaft
Publisher
Hindawi Limited
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24451
Reference48 articles.
1. DeepPVP: phenotype-based prioritization of causative variants using deep learning
2. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
3. Mouse Genome Database (MGD) 2019
4. Büttner B. Martin S. Finck A. Arelin M. Baade‐Büttner C. Bartolomaeus T. Bauer P. Bertsche A. Bernhard M. K. Biskup S. Donato N. D. Elgizouli M. Ewald R. Heine C. Hellenbroich Y. Hentschel J. Hoffjan S. Horn S. Hornemann F. &Jamra R. A.(2019).Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders [Preprint].BioRxiv.https://doi.org/10.1101/588517
5. ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
Cited by 5 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. Unveiling the hidden: revisiting the potential of old genetic data for rare disease research;European Journal of Human Genetics;2023-07-20
2. Case Report—An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions;Genes;2023-06-02
3. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings;2023-04-25
4. Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 20%;2022-10-01
5. De novo variants in the PABP domain of PABPC1 lead to developmental delay;Genetics in Medicine;2022-08
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