Livia Spörri,Justyna M Studer,Marco Kreuzer et al.
Livia Spörri et al.
Age-related macular degeneration (AMD) is the leading cause of vision loss in the aged population with the late stage geographic atrophy (GA). Risk factors for AMD include age, genetic variants in the complement system, nutritional factors,...
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy [0.03%]
通过意大利100个家庭的全基因组测序对神经发育障碍的新认识
Giovanni Spirito,Sara Trova,Gaia Treves et al.
Giovanni Spirito et al.
Neurodevelopmental disorders (NDDs) have a strong but largely unexplained genetic basis. Moreover, the genetic architecture of these complex disorders in under-represented communities is poorly studied. We analyzed 110 probands from 100 fam...
Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees [0.03%]
在30个三联征系谱中鉴定并验证散发性 moyamoya 病中的 CARS1 p.E712V 和 NF1 p.Q2002X
Yue Wang,Zhengxing Zou,Gan Chen et al.
Yue Wang et al.
Moyamoya disease (MMD) is a progressive cerebrovascular disorder with intracranial arterial stenosis and collateralization. Over 70% of sporadic cases lack known genetic drivers; RNF213 variants explain only 23% of Chinese cases, highlighti...
Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6 [0.03%]
爱沙尼亚生物银行参与者的药代动力学回忆研究发现CYP2C19和CYP2D6中的新型基因变异体
Kristi Krebs,Laura Birgit Luitva,Anette Caroline Kõre et al.
Kristi Krebs et al.
CYP2C19 and CYP2D6 are involved in the hepatic metabolism of approximately 35-40% of clinically used drugs. We conducted an in vivo phenotyping study encompassing 114 Estonian Biobank participants to evaluate the functional impact of rare o...
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation [0.03%]
安氏病内皮功能障碍：视网膜生物标志物将心脏GLA基因变异与慢性炎症联系起来
Timon Wallraven,Claudia Regenbogen,Roman Günthner et al.
Timon Wallraven et al.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by variants in the alpha-galactosidase A gene (GLA). Cardiac complications are a major cause of mortality, but the large number of variants complicate early identificat...
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE [0.03%]
一种新的生物信息学工具POSTRE能够在临床环境中鉴别出GPR101和VGLL1附近增强子的良性或致病性重复序列
Giampaolo Trivellin,Víctor Sánchez-Gaya,Alexia Grasso et al.
Giampaolo Trivellin et al.
Structural variants (SVs) that disrupt topologically associating domains can cause disease by rewiring enhancer-promoter interactions. Duplications involving GPR101 are known to cause X-linked acrogigantism (X-LAG) through ectopic GPR101 ex...
Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer [0.03%]
胚胎植入前乳腺癌基因检测中罕见和常见变异的临床意义
Todd Lencz,Upasana Bhattacharyya,Liraz Klausner et al.
Todd Lencz et al.
Recently, some clinics have begun using preimplantation genetic testing for monogenic disorders (PGT-M) for moderately penetrant breast cancer (BC) risk variants, while other clinics use polygenic risk scores (PRS) in the context of preimpl...
Author Correction: PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia [0.03%]
作者更正：PHKA1相关磷酸酶激酶缺乏症：一种运动不耐受和肌痛的单基因病态
Rebecca L Koch,Angie H Fares,Benjamin T Cocanougher et al.
Rebecca L Koch et al.
Published Erratum
NPJ genomic medicine. 2025 Dec 30;10(1):81. DOI:10.1038/s41525-025-00544-x 2025
Expanding carrier screening: beyond the genes, to include underrepresented ancestries [0.03%]
扩展携带者筛查：超越基因，纳入少数族裔祖先
Yasmin Bylstra,Pua Chee Jian,Sui Lin et al.
Yasmin Bylstra et al.
Reproductive carrier screening has evolved beyond ethnic-specific testing to include diverse populations, yet gene selection varies considerably. In Singapore, genomic data analysis identified severe paediatric conditions amongst Chinese, I...
Malignant transformation of low-grade diffusely infiltrative tumor (LGDIT), SMARCB1-mutant to atypical teratoid/rhabdoid tumor (AT/RT) [0.03%]
低级别弥漫性浸润性肿瘤(LGDIT)SMARCB1突变向非典型畸胎样/横纹肌样瘤(AT/RT)的恶性转化
Hye Jin Kim,Woojeung Song,Jong Ha Hwang et al.
Hye Jin Kim et al.
We present a rare case of low-grade diffusely infiltrative tumor (LGDIT), SMARCB1-mutant, recurred as an atypical teratoid/rhabdoid tumor (AT/RT) seven years after complete resection. Comprehensive genetic and epigenetic analysis of both LG...