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Addressing family communication in genetic counseling: A scoping review of process studies.遗传咨询中的家庭沟通问题：过程研究的范围综述
J Genet Couns. 2025 Aug;34(4):e70067. doi: 10.1002/jgc4.70067.
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Emerging and evolving values in the changing landscape of genomics.基因组学不断变化背景下新兴和演变的价值观。
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A scoping review of the development of genetic counseling practices in Asia.亚洲遗传咨询实践发展的范围综述。
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Liminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives.在向高危亲属传递遗传信息时直接接触与家庭介导接触之间的阈限状态。
Eur J Hum Genet. 2024 May;32(5):477-478. doi: 10.1038/s41431-024-01605-y. Epub 2024 Apr 16.

本文引用的文献

1
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients.巴西遗传性癌症风险综合征的遗传学：1682 例患者的综合分析。
Eur J Hum Genet. 2022 Jul;30(7):818-823. doi: 10.1038/s41431-022-01098-7. Epub 2022 May 9.
2
Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction.一种新型 OPA1 剪接变异体的特征导致隐匿性剪接位点激活和线粒体功能障碍。
Eur J Hum Genet. 2022 Jul;30(7):848-855. doi: 10.1038/s41431-022-01102-0. Epub 2022 May 9.
3
Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer.微卫星不稳定性（MSI）状态与大型巴西结直肠癌队列 5 年结局和遗传背景的关系。
Eur J Hum Genet. 2022 Jul;30(7):824-832. doi: 10.1038/s41431-022-01104-y. Epub 2022 Apr 26.
4
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments.社会动机在 DYRK1A 综合征中相对较强，而这种疾病伴有明显的言语和语言障碍。
Eur J Hum Genet. 2022 Jul;30(7):800-811. doi: 10.1038/s41431-022-01079-w. Epub 2022 Apr 18.
5
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.成人 Rubinstein-Taybi 综合征的自然病史：一项家庭报告的经验。
Eur J Hum Genet. 2022 Jul;30(7):841-847. doi: 10.1038/s41431-022-01097-8. Epub 2022 Apr 6.
6
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.神经鞘瘤病患者的诊断、治疗、管理和监测临床实践指南
Eur J Hum Genet. 2022 Jul;30(7):812-817. doi: 10.1038/s41431-022-01086-x. Epub 2022 Apr 1.
7
Correction to: The stepwise process of integrating a genetic counsellor into primary care.对《将遗传咨询师纳入初级保健的逐步过程》的勘误
Eur J Hum Genet. 2022 Jul;30(7):865. doi: 10.1038/s41431-022-01063-4.
8
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease.MAL 的错义突变导致一种罕见的白质营养不良症，类似于 Pelizaeus-Merzbacher 病。
Eur J Hum Genet. 2022 Jul;30(7):860-864. doi: 10.1038/s41431-022-01050-9. Epub 2022 Feb 25.
9
Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study.初级保健中的血红蛋白病预防：检测不足和医疗保健可及性困难的反映，一项定量研究。
Eur J Hum Genet. 2022 Jul;30(7):790-794. doi: 10.1038/s41431-022-01051-8. Epub 2022 Feb 25.
10
Informing relatives of their genetic risk: an examination of the Belgian legal context.告知亲属遗传风险：对比利时法律背景的考察。
Eur J Hum Genet. 2022 Jul;30(7):766-771. doi: 10.1038/s41431-021-01016-3. Epub 2022 Jan 8.

Clinical genomics testing: mainstreaming and globalising.

作者信息

McNeill Alisdair

机构信息

Department of Neuroscience, The University of Sheffield, Sheffield, UK.

Sheffield Clinical Genetics Department, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.

出版信息

Eur J Hum Genet. 2022 Jul;30(7):747-748. doi: 10.1038/s41431-022-01131-9.

DOI:10.1038/s41431-022-01131-9
PMID:35794342
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9259576/
Abstract
摘要