De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism [0.03%]
新型EMX2罕见变异导致特发性低促性腺激素性性腺功能减退症
Maria Stamou,Miranda Tompkins,Hannah Bow et al.
Maria Stamou et al.
Purpose: The genetic etiology of infertility remains unknown. To identify genes for human infertility, we applied a de novo variant analysis in 142 parent-proband trios with idiopathic hypogonadotropic hypogonadism (IHH),...
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants [0.03%]
通过系统评估致病性线粒体DNA和核基因变异来绘制线粒体疾病表型景观
Thiloka Ratnaike,Siddharth Ramanan,Nour Elkhateeb et al.
Thiloka Ratnaike et al.
Purpose: Primary mitochondrial diseases (PMD) arise from variants in the mitochondrial or nuclear genomes. Phenotype-based recognition of specific PMD genotypes remains difficult, prolonging the diagnostic odyssey. We exp...
Perceptions, knowledge, and attitudes toward genetics among psychiatric patients and their relatives: A systematic review and a meta-analysis [0.03%]
精神病患者及其亲属对遗传学的感知、认知和态度：系统评价和meta分析
Matthieu Prudhomme,Boris Chaumette,Philippe Nubukpo et al.
Matthieu Prudhomme et al.
Purpose: Advances in genetic applications within psychiatry offer promising benefits in diagnosis, treatment personalization, and risk prediction. However, ethical concerns-such as fear of discrimination and eugenics-and ...
A Scalable New Model of Germline Cancer Genomic Care Delivery: Assessing Psychological Outcomes [0.03%]
一种可扩展的新型生殖系癌症基因组护理模式：评估心理结果
Ilana B Solomon,Patrick Boyd,Yi Xiao et al.
Ilana B Solomon et al.
Purpose: New care models promise to increase access to germline genetic testing. To decrease testing gaps, we offered universal germline testing without pre-test genetic counseling to unselected patients at a comprehensiv...
Spinal Muscular Atrophy Among US Hutterites: Phenotype Variability in the Setting of Conserved Ancestral Haplotype and 4 SMN2 Copies [0.03%]
美国胡特尔教派的脊髓性肌肉萎缩症：在保持祖先单体型和4个SMN2拷贝的情况下出现表型多态性
Matthew E R Butchbach,Jennifer J Kale,Sarah D Simeone et al.
Matthew E R Butchbach et al.
Purpose: Ideal timing and treatment in asymptomatic newborns with 4 SMN2 copies remains controversial. We examined phenotypic variability among the Hutterite population with spinal muscular atrophy (SMA) and higher SMN2 d...
Hypercoagulability in Prader-Willi Syndrome: A Case-Control Study Exploring Coagulation Profiles and Thrombotic Risk [0.03%]
普拉德-威利综合征的高凝状态：一项关于凝血状况和血栓风险的病例对照研究
Griselda Vallès-Cardona,Assumpta Caixàs,Irene Berges et al.
Griselda Vallès-Cardona et al.
Purpose: Prader-Willi syndrome (PWS) is a complex imprinting disorder associated with severe obesity and endocrine dysfunction, both contributing to increased cardiovascular morbidity. Emerging data suggest a disproportio...
Optimizing Next Generation Sequencing for Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease [0.03%]
优化下一代测序技术用于常染色体显性遗传多囊肾病的基因诊断
Deqiong Ma,Soyoung Cho,Xinmiao Meng et al.
Deqiong Ma et al.
Purpose: Autosomal dominant polycystic kidney disease (ADPKD) affects 1:1000, causing 5-10% of kidney failure. The primary disease gene, PKD1, has six pseudogenes with 97-99% homology, a >12kb transcript, high GC content,...
Clonal haematopoiesis of indeterminate potential (CHIP): a need for standardised definition and criteria for translational research studies [0.03%]
不确定潜能的克隆性血液单核细胞增多症（CHIP）：开展转化研究需明确其定义和标准
Philip Harraka,Paul Yeh,Stephen J Nicholls et al.
Philip Harraka et al.
Interventional Genomics: Bridging Germline Diagnosis and Therapeutic Action [0.03%]
干预基因组学：连接生殖系诊断和治疗行动
Petros Giannikopoulos,Marlen C Lauffer,Christian R Marshall et al.
Petros Giannikopoulos et al.
Recent advances in personalized therapies for germline genetic disorders are expanding the clinical utility of genome sequencing beyond diagnosis and risk assessment. In this perspective, we introduce interventional genomics as a clinical p...
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association [0.03%]
LAMP3双等位基因变异与五个家庭间质性肺疾病相关性的证据
Laura A Keehan,Hitomi Ono-Minagi,Mohamad Hadhud et al.
Laura A Keehan et al.
Purpose: Genetic causes of surfactant dysfunction are associated with childhood interstitial lung disease (chILD). Lysosome-associated membrane glycoprotein 3 (LAMP3) is highly expressed within lamellar bodies of alveolar...