Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders [0.03%]
与神经发育障碍相关的新型GABBR1和GABBR2变异体的功能特征
Michal Stawarski,Noa Bielopolski,Ilana Roitman et al.
Michal Stawarski et al.
GABAB receptors, the G protein-coupled receptors for the neurotransmitter GABA, are essential for regulating neuronal excitability in the brain. Monoallelic de novo missense variants in GABBR1 and GABBR2, which encode the receptor subunits,...
Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes [0.03%]
整合模拟预测和临床证据分析HiFi长读测序在旁系同源基因中的能力
Sung Kyung Kim,Joowon Jang,Yeseul Kim et al.
Sung Kyung Kim et al.
Paralogous genes challenge short-read sequencing (SRS) due to high sequence similarity. Although long-read sequencing (LRS) improves resolution, the extent to which it resolves paralogous genes remains unclear. This study evaluates the capa...
Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability [0.03%]
MTNAP1基因变异通过干扰线粒体稳定性而导致神经退行性疾病
Abhishek Kumar,Smita Saha,Nazim Nasir et al.
Abhishek Kumar et al.
Mutations in genes encoding mitochondrial proteins are increasingly recognized as a major cause of neurodegenerative disorders, owing to the role of mitochondria in neuronal energy metabolism and signaling. Here, we investigate MTNAP1 (mito...
Barış Kayaalp,Meltem Ece Kars,Yuval Itan et al.
Barış Kayaalp et al.
We leveraged allele frequencies from gnomAD, Regeneron Genetics Center Million Exome and Turkish Variome for 4591 disease genes from PanelApp and OMIM, and identified 97,135 pathogenic and 478,263 likely pathogenic variants using an America...
Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study [0.03%]
数字化时代大规模新生儿基因组筛查决策支持研究：BabyScreen+计划
Lilian Downie,Jade Caruana,Nathasha Kugenthiran et al.
Lilian Downie et al.
Digital platforms hold promise to scale implementation of population screening. We tailored the Genetics Adviser platform to provide education, decision support, consent, and result return in a genomic newborn screening (gNBS) study, BabySc...
Semi-automated genomic newborn screening highlights complexities in reporting [0.03%]
半自动基因组新生儿筛查揭示了报告的复杂性
Ayesha Chowdhury,Shashikanth Marri,Lucy Anastasi et al.
Ayesha Chowdhury et al.
Newborn screening programs are instrumental in the early detection of treatable conditions in the first days of life. By integrating genomic approaches, there is potential to expand the range of conditions included in these programs. As par...
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...