The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency [0.03%]
MCT8缺陷症SLC16A2基因突变个体的表型谱系分析
Kirsty McWalter,Houda Zghal Eloumi,Richard Sidlow et al.
Kirsty McWalter et al.
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked condition caused by pathogenic variants in the SLC16A2 gene, resulting in dysfunctional thyroid hormone transport throughout the body. Human Phenotype Ontology (HPO) terms ...
Interaction between genetic risk and comorbid conditions in endometriosis [0.03%]
遗传风险与合并症在子宫内膜异位症中的相互作用
Isabelle M McGrath,Valentina Rukins,Triin Laisk;Estonian Biobank Research Team;Sally Mortlock et al.
Isabelle M McGrath et al.
Endometriosis is a complex disease whereby many genetic and environmental risk factors contribute to disease risk. The genetic risk of endometriosis has been well-characterised in genome-wide association studies. While few physiological ris...
Influence of Genetic Ancestry on Gene-Environment Interactions of Polygenic Risk and Sociocultural Factors: Results from the Hispanic Community Health Study/Study of Latinos [0.03%]
遗传背景对基因-环境互作的影响：来自Hispanic社区健康研究的研究结果
Jayati Sharma,Cristin E McArdle,Mariaelisa Graff et al.
Jayati Sharma et al.
Often studies will aggregate all participants identified as Hispanic/Latino, despite genetic and environmental substructure, preventing the meaningful interrogation of the roles of genetics and environment in human health. Using the Hispani...
Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown [0.03%]
源于患者的PPP2R5D致病性变异通过特异性敲低逆转干扰神经元发育和轴突生长
Randee E Young,Michael V Zuccaro,Charles A LeDuc et al.
Randee E Young et al.
A significant barrier to the treatment of neurodevelopmental disorders (NDDs) is a limited understanding of disease mechanisms. Heterozygous missense variants in PPP2R5D cause Houge-Janssens syndrome 1, a rare NDD characterized by macroceph...
Pathogenic Germline Variants in Small Cell Lung Cancer: A Systematic Review and Meta-Analysis [0.03%]
小细胞肺癌中的致病变异：系统性回顾和元分析
Sami Ul Haq,Aleem Aamir,Chloe Mighton et al.
Sami Ul Haq et al.
This systematic review and meta-analysis examined the prevalence and clinical impact of germline variants in small cell lung cancer (SCLC). Primary objectives included estimating the prevalence of germline variants in SCLC patients, while s...
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers [0.03%]
高血压可提高PKD1和PKD2变异携带者多囊肾病的阳性预测值
Natalie Telis,Lisa McEwen,Alexandre Bolze et al.
Natalie Telis et al.
Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic form of kidney disease. Although rare causal variants in the PKD1 and PKD2 genes have been identified, their penetrance and the disease progression and outcome are ...
A Variant in RNF212B May Contribute to Female Infertility and Recurrent Pregnancy Loss [0.03%]
RNF212B的新变异可能导致女性不孕和反复性流产
Michelle E Darko,Michelle Kappy,Daniel Rabizadeh et al.
Michelle E Darko et al.
Women with genetic causes of infertility are more likely to experience recurrent pregnancy loss (RPL) (1). Advancements in whole genome sequencing (WGS) have allowed for improved detection of such genes (2-4). One reproductively young patie...
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies [0.03%]
靶向长读码cDNA测序揭示了导致视网膜营养不良的新型剪接致病突变
Dalila Capasso,Roberta Zeuli,Gavin Arno et al.
Dalila Capasso et al.
Splice-altering variants are suggested to be responsible for part of the missing heritability of inherited retinal diseases (IRDs). The interpretation of these variants is challenging as functional evidence is required to validate pathogeni...
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies [0.03%]
结合下一代表型组学进行深层表型定量以研究192例胚系组蛋白病患者
Emily E Lubin,Elizabeth M Gonzalez,Annabel K Sangree et al.
Emily E Lubin et al.
Mendelian histonopathies are rare neurodevelopmental disorders (NDDs) caused by germline variants in histone-encoding genes. Here, we perform a more expansive pan-histonopathy interrogation than previously possible. We analyze data from 192...
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases [0.03%]
通过对外显子组和基因组测序数据的系统分析，在6,500多个罕见病家庭中检测线粒体DNA变异，解决了未诊断病例
Sarah L Stenton,Kristen Laricchia,Nicole J Lake et al.
Sarah L Stenton et al.
Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is not always specifically evaluated in...