Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements [0.03%]
谷草转氨酶2缺乏症的全面基因型、表型和生化特征分析：一种进行性神经发育障碍，伴有癫痫和异常运动
Hannah M German,Maha S Zaki,Muhammad A Usmani et al.
Hannah M German et al.
Purpose: Glutamic-oxaloacetic transaminase (GOT), also known as aspartate aminotransferase, catalyzes the reversible transamination of oxaloacetate and glutamate to aspartate and α-ketoglutarate. Two isoforms, cytosolic ...
Correspondence on "Digital technologies in genetic counseling: Recommendations for a morally sound integration" by van Lingen et al [0.03%]
关于范林根等人撰写的“遗传咨询中的数字技术：道德sound整合的建议”的来信
Erma Pratiwi Nufi
Erma Pratiwi Nufi
Response to Nufi [0.03%]
回应努菲
Marlies N van Lingen,Noor A A Giesbertz,Karin R Jongsma
Marlies N van Lingen
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome [0.03%]
胎儿酒精综合症的DNA甲基化表观遗传标志的发现及其作为分子生物标记物的验证研究
Liselot van der Laan,Raissa Relator,Irene Valenzuela et al.
Liselot van der Laan et al.
Purpose: Fetal Alcohol Spectrum Disorder (FASD) encompasses a range of clinical features and neurodevelopmental disorders in children exposed to alcohol in utero. Despite its global public health significance, FASD diagno...
Genome sequencing reveals the impact of pseudoexons in rare genetic disease [0.03%]
基因测序揭示假外显子对罕见遗传疾病的影响
Georgia Pitsava,Megan Hawley,Light Auriga et al.
Georgia Pitsava et al.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining ...
Intersectionality in a sociogenomic world: How do race, disability, socioeconomic status, and polygenic prediction interact to affect perceptions of educational trajectories? [0.03%]
社会基因组学世界中的交叉性研究：种族、残疾、经济社会地位和多基因预测如何相互作用影响对教育轨迹的感知？
Lucas J Matthews,Daphne O Martschenko,Colby Lewis V et al.
Lucas J Matthews et al.
"All doctors should be trained in that": The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disability [0.03%]
“所有的医生都应该接受这样的培训”：一项关于生产教育工具包的共同生产和混合方法评估，以使智力障碍者获得安全、高质量的遗传健康服务
Iva Strnadová,Manjekah Dunn,Chloe Molnar et al.
Iva Strnadová et al.
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years [0.03%]
耳聋常见基因变异的新生儿筛查：在安大略省的实施及前三年回顾性研究结果
Kristin D Kernohan,Lauren Gallagher,Marie Pigeon et al.
Kristin D Kernohan et al.
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time [0.03%]
听觉丧失相关基因的ClinGen再评价显示基因疾病的有效性会随时间发生显著变化
Kezang C Tshering,Marina T DiStefano,Andrea M Oza et al.
Kezang C Tshering et al.
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer [0.03%]
量化遗传性平滑肌瘤病和肾细胞癌（HLRCC）以及肾癌诊断实验室检测中罕见生殖系FH变异的表型特异性（PP4）证据：大规模整合罕见生殖系FH变异以研究遗传性平滑肌瘤病和肾细胞癌（HLRCC）及肾癌中的表型特异性
Sophie Allen,Charlie F Rowlands,Samantha Butler et al.
Sophie Allen et al.
Purpose: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH (HGNC:3700). This paper quantitatively weights the phenotypic...