Facing suffering honestly: On severity, utility, and the public good in reproductive genetic carrier screening [0.03%]
坦然面对痛苦：生殖遗传携带者筛查的严峻性、效用和公共利益
Hafez Ismaili M&#x;hamdi,Sanne van der Hout,Angus Clark et al.
Hafez Ismaili M&#x;hamdi et al.
Reproductive genetic carrier screening (RGCS) raises the question of which conditions should be included. Severity has long been the guiding criterion: conditions causing serious suffering, justify offering reproductive options. Some propos...
Genomic newborn screening: data retention for research and clinical reuse [0.03%]
新生儿基因筛查：科研及临床重复利用的的数据存储政策
Anna C F Lewis,Aaron J Goldenberg,Bartha M Knoppers
Anna C F Lewis
The integration of genomic sequencing into public health newborn screening (NBS), gNBS, could identify far more children that would meet screening guidelines than existing biochemical NBS. The retention of genomic data from gNBS could have ...
Rebecka Pestoff,Christophe Cordier,Donna Darmanin et al.
Rebecka Pestoff et al.
Genetics in medicine is rapidly becoming integral to European healthcare, yet access to high-quality genetic counseling remains inconsistent. Genetic counseling empowers patients to make informed decisions about genetic testing, improves cl...
Long-term survival without high cancer risk in a cohort of 24 patients with Apert syndrome [0.03%]
24例Apert综合征患者的长期生存和低癌症风险研究
Benjamin J Cairns,Dominique M Davidson,Sarah F Smithson et al.
Benjamin J Cairns et al.
The classification of congenital malformations has been transformed over recent decades by advances in genetic analysis, so that the natural history of many disorders during childhood is well described. However, implications for adult progn...
Advancing training on genetic therapies: a multi-specialty survey highlighting the role of medical geneticists [0.03%]
关于基因治疗培训的多学科调查：突出医学遗传学家的作用
R Díaz Jiménez,Y Trakadis
R Díaz Jiménez
This cross-sectional online survey study explores the landscape of medical training on genetic therapies, assessing the experience, expectations and attitudes of medical geneticists, other specialists, and medical trainees in Canada and USA...
Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type [0.03%]
6p22.3号染色体臂倒位支持ID4转录调控异常为Savarirayan型中管骨发育不全的致病机制
Elsa Lucas-Castro,Rosario Ramos-Mejía,Víctor Sánchez-Gaya et al.
Elsa Lucas-Castro et al.
Mesomelic dysplasia Savarirayan-type or ID4-related (MDST) is an ultra-rare skeletal dysplasia caused by chromosome 6p22.3 microdeletions. To date, only four cases have been reported. Here, we report a fifth case, a 9 year-old female with s...
Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation [0.03%]
早发性房颤患者心肌病基因有害变异的流行率
Oliver Bundgaard Vad,Quim Bech Vilaseca,Astrid Filt Beyer et al.
Oliver Bundgaard Vad et al.
Atrial fibrillation (AF) is a common cardiac arrhythmia associated with an increased risk of stroke, heart failure, and death. Recent studies suggest that early-onset AF increases the risk of developing heart failure and dilated cardiomyopa...
SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula [0.03%]
SLC52A3相关的Brown-Vialetto-Van Laere综合征：来自阿拉伯半岛的大队列研究
Bushra Al Shamsi,Momen Al Momen,Farah Al Kindy et al.
Bushra Al Shamsi et al.
SLC52A3-related Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder characterized by progressive motor and sensory impairment, with high mortality rate if left untreated. We hereby report the largest cohort with SL...
'Everyday genetics' in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britain [0.03%]
“大众遗传学”视角下的基因观念——英国日常生活的遗传学透视报告
Rachel Horton,Susie Weller,Lisa Ballard et al.
Rachel Horton et al.
Over the past two decades, genetic testing has undergone major shifts in its accessibility and in its nature. Historically, it primarily involved analysis of single genes selected on the basis of symptoms or family history, and was availabl...