Exploring the spectrum of central nervous system tumours in carriers of germline POT1 variants [0.03%]
探索POT1变异体遗传载体中枢神经系统肿瘤谱系
Emilie Neerup Nielsen,Anne Marie Jelsig,Jon Foss-Skiftesvik et al.
Emilie Neerup Nielsen et al.
Background: Pathogenic variants in the protection of telomerase 1 (POT1) gene are associated with predisposition to a broad spectrum of malignancies, although the specific genotype-phenotype correlation has not yet been f...
Dental agenesis as a novel phenotypical feature associated with hereditary diffuse gastric cancer in China [0.03%]
遗传性弥漫型胃癌的新型表型特征——牙缺失（中国病例）
Ziyue Wang,Qianwen Ding,Jiaqi Xu et al.
Ziyue Wang et al.
Background: Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant gastric cancer associated with germline CDH1 mutations. Carriers of CDH1 mutations have a higher risk of developing gastric cancer at a younger...
PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant [0.03%]
PURA蛋白核内定位异常：p.L148Wfs*77PURA突变模型中转录失调和DNA解旋缺陷的机制基础
Yan Wang,Ping Wang,Jingjing He et al.
Yan Wang et al.
Background: Heterozygous PURA (Purine-rich element-binding protein A) variants cause PURA syndrome, a neurodevelopmental disorder characterised by hypotonia, seizures and intellectual disability. Previous studies have foc...
Six at Sixty. The revised Ghent nosology for Marfan syndrome turns 15 - what we have gained, what we have missed [0.03%]
马凡综合征的根特标准修订版已满15岁——我们得到了什么，又错过了什么？
Bart Loeys,Reihaneh Asadi,Eline Vanaken et al.
Bart Loeys et al.
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature [0.03%]
ACTB基因缺失或单碱基功能丧失型变异：临床表型的扩展及文献综述
Marion Lesieur-Sebellin,Kristen Wigby,Elise Schaefer et al.
Marion Lesieur-Sebellin et al.
Background: Pathogenic gain-of-function or dominant-negative effect missense variations in ACTB are associated with a neurodevelopmental disorder characterised by intellectual disability (ID), seizures, sensorineural hear...
Health-related quality of life in patients with mitochondrial disease and their carers [0.03%]
线粒体病患者及其照料者的健康相关生活质量评估
Deborah Schofield,Joshua Kraindler,Katherine Lim et al.
Deborah Schofield et al.
Background: Mitochondrial diseases are a group of rare, chronic disorders with a significant disease burden; however, there is limited knowledge about their effects on the health-related quality of life (HRQoL) of patient...
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation [0.03%]
罕见皮肤病发病机制研究——非支配性营养不良性大疱表皮松解症携带独特c. 6527 ins C突变的塞法迪人种群分离分析
Emily Mira Warshauer,Paul A Maier,Goran Runfeldt et al.
Emily Mira Warshauer et al.
Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe blistering skin disorder caused by loss-of-function mutations in the type VII collagen gene (COL7A1). The COL7A1 c.6527insC mutation is cu...
Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify [0.03%]
基于BayesQuantify的ACMG/AMP变异分类标准的校准与优化
Sihan Liu,Xiaoshu Feng,Yang Wu et al.
Sihan Liu et al.
Background: Improving the precision and accuracy of variant classification in clinical genetic testing requires further specification and stratification of the American College of Medical Genetics/Association of Molecular...
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort [0.03%]
中国大样本队列揭示小眼症全面的遗传图谱和临床异质性
Qingdan Xu,Yiwen Zhou,Jiajian Wang et al.
Qingdan Xu et al.
Background: Nanophthalmos is a rare ocular condition characterised by a significantly short axial length (AL) and high hyperopia, often associated with various complications. This study aims to provide a comprehensive ana...
Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus [0.03%]
TBX2杂合移码突变导致一种新的综合征性听力损失伴不完全外显眼球震颤表型
Wan Hua,Yanfei Wang,Xiang Li et al.
Wan Hua et al.
Background: A substantial fraction of hereditary hearing loss (HL) remains unexplained by known HL genes. Tbx2 is a developmental transcription factor critical for inner ear hair cell differentiation in mice, while its pa...