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...
Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists [0.03%]
ACMG次要发现在内的拷贝数变异的临床细胞遗传学报告框架
Mahmoud Aarabi,Helia Darabi,Aryan Bashar et al.
Mahmoud Aarabi et al.
Purpose: To determine the pathogenicity and frequency of copy-number variants (CNV) in the 81 secondary finding (SFv3.2) genes recommended by the American College of Medical Genetics and Genomics (ACMG). ...
Abhinav Thummala,Rhea Sudhakaran,Anoop Gurram et al.
Abhinav Thummala et al.
Purpose: A primary challenge in clinical genetics is accurate interpretation of identified variants and relaying the information to patients and providers. Inconsistencies around handling variant reclassifications and not...
Expanded-access use of elamipretide in a critically ill patient with Barth syndrome [0.03%]
巴尔特综合征危重患者的依拉前列醇扩大使用体验报告
Amy C Goldstein,Cassandra Pantano,Mariya Redko et al.
Amy C Goldstein et al.