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Genomic medicine in full bloom: a summer farewell issue.

作者信息

Zonuzi Seda Sinem, 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. 2025 Aug;33(8):973-974. doi: 10.1038/s41431-025-01914-w.

DOI:10.1038/s41431-025-01914-w
PMID:40759766
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12322296/
Abstract
摘要

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Eur J Hum Genet. 2025 Jul 16. doi: 10.1038/s41431-025-01888-9.
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Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening.重塑生育故事：生殖遗传携带者筛查12个月后的心理社会和生殖影响
Eur J Hum Genet. 2025 Jul 9. doi: 10.1038/s41431-025-01903-z.
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Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.纯合子COQ9突变：一种潜在可治疗的遗传性痉挛性截瘫的新病因。
Eur J Hum Genet. 2025 Jun 27. doi: 10.1038/s41431-025-01895-w.
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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.与CNOT3相关的神经发育障碍的综合分析：表型和基因型特征
Eur J Hum Genet. 2025 Jun 25. doi: 10.1038/s41431-025-01884-z.
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A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot.HEY2基因中的一种新型杂合致病性变异导致了家族性非综合征型法洛四联症。
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Eur J Hum Genet. 2025 Jun 6. doi: 10.1038/s41431-025-01885-y.
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Genetic tests as prophecy: understanding self-defeating and self-fulfilling mechanisms in (predictive) genetic testing.作为预言的基因检测：理解（预测性）基因检测中的自我挫败和自我实现机制。
Eur J Hum Genet. 2025 Jun 5. doi: 10.1038/s41431-025-01874-1.
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Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.伴有呼吸和心肌受累的严重早发性肌病中的新型HSPB8突变在细胞模型中导致蛋白质稳态缺陷。
Eur J Hum Genet. 2025 Jun 4. doi: 10.1038/s41431-025-01868-z.
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DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.男性与DDX3X相关的神经发育障碍——19例男性新病例队列及文献综述
Eur J Hum Genet. 2025 Mar 31. doi: 10.1038/s41431-025-01832-x.
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