The Australian LINEAGE Study: advancing and implementing international guidance on genomic data within local governance frameworks [0.03%]
澳大利亚家系研究（LINEAGE）：在本地治理框架下推进和落实国际关于基因组数据的指导方针
Tamra Lysaght,Rachel Ankeny,Alex Brown et al.
Tamra Lysaght et al.
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome [0.03%]
长读技术识别出一种隐藏的LINE-1/ERV1插入为IQCB1基因变异导致Senior-Løken综合征的原因
Suzanne E de Bruijn,L Ingeborgh van den Born,Ronny Derks et al.
Suzanne E de Bruijn et al.
Senior-Løken syndrome is a rare ciliopathy characterized by retinal dystrophy and nephronophthisis. This autosomal recessive inherited disease is caused by pathogenic variants in several genes, including IQCB1. We present a Senior-Løken c...
Variants in CFAP410 cause a range of retinal and skeletal phenotypes [0.03%]
CFAP410基因变异导致一系列视网膜和骨骼表型
Ryan E Schmidt,Amy E Pohodich,David Birch et al.
Ryan E Schmidt et al.
Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from mult...
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort [0.03%]
巴基斯坦大规模队列的遗传性视网膜疾病的全面遗传解析
Mukhtar Ullah,Atta Ur Rehman,Mathieu Quinodoz et al.
Mukhtar Ullah et al.
Inherited retinal diseases (IRDs) are a group of rare Mendelian disorders that often result in progressive vision loss and potentially to complete blindness at the end stage. In this study, we investigated a large cohort of patients with IR...
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC [0.03%]
利用长读测序技术解析APC基因内含子中的致病性LINE-1插入序列
Alexandra A Baumann,Lisanne I Knol,Marie Arlt et al.
Alexandra A Baumann et al.
Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the tumor suppressor gene APC. Confirmation of diagnosis was not achieved by cancer gene panel and exome sequencing or custom array-CGH in a family with suspe...
Review: Utility of mass spectrometry in rare disease research and diagnosis [0.03%]
评论：质谱在罕见疾病研究和诊断中的应用价值
Teresa Zhao,Daniella H Hock,James Pitt et al.
Teresa Zhao et al.
Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers in a timely manner is critical to affected individuals and their families. Multi-omics, a term which usually encompas...
Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension [0.03%]
具有特发性和复杂先天性心脏病的患者肺动脉高压的致病SMAD6变异位点研究
Sofia Karl,Ekkehard Grünig,Memoona Shaukat et al.
Sofia Karl et al.
In patients with complex congenital heart disease (CHD) pathogenic SMAD6 variants have been described previously. The aim of this study was to analyze if pathogenic SMAD6 variants also occur in patients with CHD associated with pulmonary ar...
Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial [0.03%]
作者更正：在儿童癌症精准医学试验中将原始基因组数据返回给研究参与者
Kristine Barlow-Stewart,Eliza Courtney,Mark Cowley et al.
Kristine Barlow-Stewart et al.
Published Erratum
NPJ genomic medicine. 2025 Mar 24;10(1):27. DOI:10.1038/s41525-025-00486-4 2025
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit [0.03%]
犹他NeoSeq项目：促进新生儿重症监护室基因组诊断的多学科合作计划
Sabrina Malone Jenkins,Rachel N Palmquist,Barry Moore et al.
Sabrina Malone Jenkins et al.
Rapid genomic diagnostics in the Neonatal Intensive Care Unit represents a paradigm shift in medicine with increasing evidence of the utility of early diagnosis, impacting management. The goal of the Utah NeoSeq Project was to implement and...
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing [0.03%]
胸主动脉夹层和遗传学检测阴性的马凡综合征的非常规剪接变异分析
David R Murdock,Dong-Chuan Guo,John S DePaolo et al.
David R Murdock et al.
Individuals with heritable thoracic aortic disease (HTAD) face a high risk of deadly aortic dissections, but genetic testing identifies causative variants in only a minority of cases. We explored the contribution of non-canonical splice var...