November in EJHG: looking at genetic counsellor training in Europe, novel clinical guidelines and ancestral impact on variant interpretation.
作者信息
McNeill Alisdair
机构信息
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
出版信息
Eur J Hum Genet. 2024 Nov;32(11):1343-1344. doi: 10.1038/s41431-024-01713-9.
Abstract
摘要
相似文献
1
November in EJHG: looking at genetic counsellor training in Europe, novel clinical guidelines and ancestral impact on variant interpretation.11月的《欧洲人类遗传学杂志》：审视欧洲的遗传咨询师培训、新的临床指南以及祖先对变异解读的影响。
Eur J Hum Genet. 2024 Nov;32(11):1343-1344. doi: 10.1038/s41431-024-01713-9.
2
Interventions to improve inhaler technique for people with asthma.改善哮喘患者吸入器使用技术的干预措施。
Cochrane Database Syst Rev. 2017 Mar 13;3(3):CD012286. doi: 10.1002/14651858.CD012286.pub2.
4
Exercise interventions on health-related quality of life for people with cancer during active treatment.积极治疗期间针对癌症患者健康相关生活质量的运动干预措施。
Cochrane Database Syst Rev. 2012 Aug 15;2012(8):CD008465. doi: 10.1002/14651858.CD008465.pub2.
5
Parent training interventions for Attention Deficit Hyperactivity Disorder (ADHD) in children aged 5 to 18 years.针对5至18岁儿童注意力缺陷多动障碍（ADHD）的家长培训干预措施。
Cochrane Database Syst Rev. 2011 Dec 7;2011(12):CD003018. doi: 10.1002/14651858.CD003018.pub3.
6
Rituximab for myasthenia gravis.利妥昔单抗治疗重症肌无力
Cochrane Database Syst Rev. 2025 Jul 3;7(7):CD014574. doi: 10.1002/14651858.CD014574.pub2.
8
Aflibercept for neovascular age-related macular degeneration.阿柏西普用于治疗新生血管性年龄相关性黄斑变性。
Cochrane Database Syst Rev. 2016 Feb 8;2(2):CD011346. doi: 10.1002/14651858.CD011346.pub2.
9
Group-based parent training programmes for improving parental psychosocial health.基于小组的家长培训计划，用于改善家长的心理社会健康状况。
Cochrane Database Syst Rev. 2012 Jun 13(6):CD002020. doi: 10.1002/14651858.CD002020.pub3.
本文引用的文献
1
Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancer.采用行为改变方法来支持乳腺癌或前列腺癌群体基因组筛查及管理方案的应用。
Eur J Hum Genet. 2025 Jan;33(1):108-120. doi: 10.1038/s41431-024-01729-1. Epub 2024 Nov 12.
2
Predicting age of onset and progression of disease in late-onset genetic neurodegenerative diseases: An ethics review and research agenda.预测晚发性遗传神经退行性疾病的发病年龄和疾病进展：伦理审查和研究议程。
Eur J Hum Genet. 2024 Nov;32(11):1361-1370. doi: 10.1038/s41431-024-01688-7. Epub 2024 Sep 24.
3
Ancestral genetic components are consistently associated with the complex trait landscape in European biobanks.祖先遗传成分在欧洲生物库中与复杂性状图谱始终保持一致。
Eur J Hum Genet. 2024 Nov;32(11):1492-1499. doi: 10.1038/s41431-024-01678-9. Epub 2024 Aug 10.
4
Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.横纹肌样瘤 1 型易感性综合征（RTPS1）的迟发性肿瘤及监测意义。
Eur J Hum Genet. 2024 Nov;32(11):1474-1482. doi: 10.1038/s41431-024-01674-z. Epub 2024 Aug 8.
5
Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease.评估 AlphaMissense 识别影响常见疾病易感性的变异的能力。
Eur J Hum Genet. 2024 Nov;32(11):1419-1427. doi: 10.1038/s41431-024-01675-y. Epub 2024 Aug 3.
6
Colorectal cancer risk stratification using a polygenic risk score in symptomatic primary care patients-a UK Biobank retrospective cohort study.基于多基因风险评分的症状性初级保健患者结直肠癌风险分层：一项英国生物库回顾性队列研究。
Eur J Hum Genet. 2024 Nov;32(11):1456-1464. doi: 10.1038/s41431-024-01654-3. Epub 2024 Aug 1.
7
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.巴德-比德尔综合征的诊断标准与管理改进：欧洲参考网络间的共识声明与建议
Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31.
8
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.更正：神经发育和神经退行性疾病Bryant-Li-Bhoj综合征的扩展表型谱，新增38例个体。
Eur J Hum Genet. 2024 Aug;32(8):1032. doi: 10.1038/s41431-024-01659-y.
9
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.对 14392 份全基因组进行分析，结果显示 3.5%的卡塔尔人携带具有医学可操作性的变异。
Eur J Hum Genet. 2024 Nov;32(11):1465-1473. doi: 10.1038/s41431-024-01656-1. Epub 2024 Jul 17.
10
Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients.儿科照护路径中基因组引发的心理和伦理问题：对父母和儿童癌症患者的定性分析。
Eur J Hum Genet. 2024 Nov;32(11):1446-1455. doi: 10.1038/s41431-024-01653-4. Epub 2024 Jul 13.
Zotero 插件