Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America [0.03%]
一项关于软骨发育不全的终身影响研究（LISA）：聚焦拉丁美洲软骨发育不全患者生活质量的观察性跨国研究结果
Juan Llerena Jr,Pablo Rosselli,Amanda Aragão et al.
Juan Llerena Jr et al.
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact St...
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study [0.03%]
一项关于年轻的儿科患者GLA基因变异的前瞻性特征研究：来自Fabry MOPPet研究的为期五年的纵向数据（摘要）
D A Laney,M F Houde,A L Foley et al.
D A Laney et al.
Purpose: This prospective, longitudinal study was designed to determine the natural history of Fabry disease (FD) in early pediatric patients across the disease spectrum. ...
Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome [0.03%]
指纹自动化分析在遗传紊乱卡布奇尼综合症诊断中的应用工具
Viktor Ingi Agustsson,Pall Asgeir Bjornsson,Ashildur Fridriksdottir et al.
Viktor Ingi Agustsson et al.
Purpose: Emerging therapeutic strategies for Kabuki syndrome (KS) make early diagnosis critical. Fingerprint analysis as a diagnostic aid for KS diagnosis could facilitate early diagnosis and expand the current patient ba...
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports [0.03%]
钼辅因子缺乏脑损伤发生时间：病例报告的meta分析研究
Elise A Ferreira,Floris C Hofstede,Hanneke A Haijes-Siepel et al.
Elise A Ferreira et al.
Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associ...
Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions [0.03%]
利用基因组数据库确定常染色体隐性疾病的频率和人群异质性
William B Hannah,Mitchell L Drumm,Keith Nykamp et al.
William B Hannah et al.
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry [0.03%]
基于族裔的携带者筛查在阿什肯纳兹犹太人遗传病中的不足之处
Hannah Llorin,Ruth Tennen,Sarah Laskey et al.
Hannah Llorin et al.
Purpose: Carrier screening identifies reproductive risk for autosomal recessive and X-linked genetic conditions. Currently, some medical society guidelines continue to recommend ethnicity-based carrier screening for condi...
Genetic kidney disease has a higher likelihood and cost of inpatient admissions compared to other aetiologies [0.03%]
遗传性肾脏疾病住院的可能性和费用高于其他病因
P Marcin Sowa,Andrew J Mallett,Luke B Connelly
P Marcin Sowa
Purpose: There is increasing recognition of monogenic aetiologies for kidney disease. We sought to identify whether genetic kidney disease (GKD) has distinct hospitalization patterns compared to other forms of chronic kid...
Detection and characterization of copy-number variants from exome sequencing in the DDD study [0.03%]
通过外显子组测序检测DDD研究中拷贝数变异并进行特征分析
Petr Danecek,Eugene J Gardner,Tomas W Fitzgerald et al.
Petr Danecek et al.
Purpose: Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy...
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
阿莫西瓦酶α获批用于治疗非中枢神经系统α-岩藻糖苷贮积症表现：美国医学遗传学与基因组学学院（ACMG）的治疗通讯
Julie M Lander,Monica Penon-Portmann,V Reid Sutton et al.
Julie M Lander et al.
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy [0.03%]
来自11,754个罕见病家系的基因组测序数据拷贝数分析：用于识别自显性遗传疾病基因敲除模型（包括一种新的自显性遗传视网膜色素变性相关基因）
Eric Olinger,Ian J Wilson,Sarah Orr et al.
Eric Olinger et al.
Purpose: In parent-child trios with genome sequencing data, we investigated inherited biallelic deletions to identify known and novel genetic disorders. M...