Solving the unsolved rare diseases in Europe
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-021-00924-8.pdf
Reference6 articles.
1. Zurek B, Ellwanger K, Vissers L, Schüle R, Synofzik M, Töpf A, et al. Solve-RD: systematic Pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00859-0.
2. Matalonga L, Hernandez-Ferrer C, Piscia D, Solve-RD SNV-indel working group, Schüle R, Synofzik M, et al. Diagnosis of rare disease patients through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00852-7.
3. de Boer E, Ockeloen CW, Matalonga L, Horvath R, Solve-RD SNV-indel working group, Rodenburg RJ, et al. A pathogenic MT-TL1 variant identified by whole exome sequencing in an individual with unexplained intellectual disability, epilepsy and spastic tetraparesis. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00900-2.
4. Töpf A, Pyle A, Griffin H, Matalonga L, Schon K, Solve-RD SNV-indel working group, et al. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00851-8.
5. Te Paske I, Garcia-Pelaez J, Sommer AK, Matalonga L, Starzynska T, Jakubowska A, et al. A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00853-6.
Cited by 7 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. NanoRanger enables rapid single base-pair resolution of genomic disorders;2023-10-15
2. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators;Frontiers in Public Health;2023-09-26
3. Diagnosing rare diseases and mental well-being: a family’s story;Orphanet Journal of Rare Diseases;2023-03-06
4. The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time;International Journal of Environmental Research and Public Health;2023-03-04
5. Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks;International Journal of Molecular Sciences;2023-01-14
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