New year, new issue.
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 Jan;30(1):1-2. doi: 10.1038/s41431-021-01014-5.
Abstract
摘要
相似文献
1
New year, new issue.新的一年，新的一期。
Eur J Hum Genet. 2022 Jan;30(1):1-2. doi: 10.1038/s41431-021-01014-5.
2
New testing guidelines for hearing loss support next-generation sequencing: testing method may help determine genetic causes of hearing loss among patients whose phenotypes are not easily distinguished clinically.听力损失的新检测指南支持下一代测序：该检测方法可能有助于确定临床表型不易区分的患者听力损失的遗传原因。
Am J Med Genet A. 2014 Jul;164A(7):vii-viii. doi: 10.1002/ajmg.a.36643.
3
Molecular diagnosis of hereditary hearing impairment.遗传性听力障碍的分子诊断
Adv Otorhinolaryngol. 2002;61:11-27. doi: 10.1159/000066799.
4
Genetic testing as part of the early hearing detection and intervention (EHDI) process.基因检测作为早期听力检测与干预（EHDI）流程的一部分。
Genet Med. 2004 Nov-Dec;6(6):521-5. doi: 10.1097/01.gim.0000144187.21727.28.
5
Advances in genetic diagnostics for hereditary hearing loss.遗传性听力损失的基因诊断进展。
J Basic Clin Physiol Pharmacol. 2013;24(3):165-70. doi: 10.1515/jbcpp-2013-0063.
6
The use of genetic testing in the evaluation of hearing impairment in a child.基因检测在儿童听力障碍评估中的应用。
Curr Opin Pediatr. 2005 Dec;17(6):709-12. doi: 10.1097/01.mop.0000181469.56484.5f.
7
Navigating genetic diagnostics in patients with hearing loss.听力损失患者的基因诊断导航
Curr Opin Pediatr. 2016 Dec;28(6):705-712. doi: 10.1097/MOP.0000000000000410.
8
Researchers use bloodspots to identify genetic hearing loss: study indicates testing scenario has potential.研究人员利用血斑来识别遗传性听力损失：研究表明该检测方案具有潜力。
Am J Med Genet A. 2012 Apr;158A(4):vii-viii. doi: 10.1002/ajmg.a.35348.
9
10
Molecular diagnosis of hearing loss.听力损失的分子诊断
Curr Protoc Hum Genet. 2012 Jan;Chapter 9:Unit 9.16. doi: 10.1002/0471142905.hg0916s72.
本文引用的文献
1
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.TMC1 同义替换的重新分类为一种变体，破坏与隐性听力损失相关的剪接调控元件。
Eur J Hum Genet. 2022 Jan;30(1):34-41. doi: 10.1038/s41431-021-01010-9. Epub 2021 Dec 3.
2
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.尼日利亚约鲁巴人群儿童听力损失的基因组分析。
Eur J Hum Genet. 2022 Jan;30(1):42-52. doi: 10.1038/s41431-021-00984-w. Epub 2021 Nov 26.
3
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.加速基因组测序并控制重症监护病房婴儿的成本：法国医院网络的一项可行性研究。
Eur J Hum Genet. 2022 May;30(5):567-576. doi: 10.1038/s41431-021-00998-4. Epub 2021 Nov 15.
4
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.SOX4 双等位基因框内缺失与发育迟缓、肌张力减退和智力残疾有关。
Eur J Hum Genet. 2022 Feb;30(2):243-247. doi: 10.1038/s41431-021-00968-w. Epub 2021 Nov 8.
5
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.与 FHA 和磷酸酶结构域均受影响的变异相关的 PNKP 相关原发性小头畸形的产前表型。
Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25.
6
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.外显子组-first approach 以降低诊断成本和时间-111 例罕见神经发育障碍个体的回顾性分析。
Eur J Hum Genet. 2022 Jan;30(1):117-125. doi: 10.1038/s41431-021-00981-z. Epub 2021 Oct 25.
7
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.进一步描述 White-Sutton 综合征的临床谱：12 例新病例及文献复习。
Eur J Hum Genet. 2022 Jan;30(1):95-100. doi: 10.1038/s41431-021-00961-3. Epub 2021 Oct 14.
8
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?为什么人们会寻求复杂疾病的多基因风险评分，以及他们如何理解和应对这些结果？
Eur J Hum Genet. 2022 Jan;30(1):81-87. doi: 10.1038/s41431-021-00929-3. Epub 2021 Jul 19.
9
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data.在 3251 名患者的临床数据中，儿童癫痫的表型同质性在基因特异性模式中演变。
Eur J Hum Genet. 2021 Nov;29(11):1690-1700. doi: 10.1038/s41431-021-00908-8. Epub 2021 May 24.
10
Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.频繁多态性和罕见同义变体的相加效应改变了尼曼-匹克病 C 型双胞胎患者的剪接。
Eur J Hum Genet. 2022 Jan;30(1):133-136. doi: 10.1038/s41431-021-00898-7. Epub 2021 May 6.
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