Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) [0.03%]
RAD51C、RAD51D和BRIP1基因杂合致病变异携带者的管理：美国医学遗传学与基因组学学会（ACMG）临床实践资源
Joanne Ngeow,Jianbang Chiang,Esteban Astiazaran-Symonds et al.
Joanne Ngeow et al.
Purpose: RAD51C, RAD51D, and BRIP1 germline pathogenic variants (GPVs) are associated with increased lifetime risks of tubo-ovarian cancer. Resources for managing RAD51C, RAD51D, and BRIP1 heterozygotes in clinical practi...
Toward Ethical Provenance Tracking: The GA4GH Model Data Access Agreement (DAA) [0.03%]
迈向道德来源追踪：全球人类基因组组织模型数据访问协议（DAA）
Alexander Bernier,Bartha Maria Knoppers,Jonathan Lawson et al.
Alexander Bernier et al.
Purpose: Standardizing contractual clauses that govern data access enables research institutions to responsibly steward genomic and related health data while enabling its efficient downstream re-use. ...
The Clinical Utility of Systematic Reporting of Secondary Findings in Prenatal Diagnosis [0.03%]
系统报告产前诊断中次要发现的临床应用价值
Kaili Yin,Qingwei Qi,Xiya Zhou et al.
Kaili Yin et al.
Purpose: Secondary findings (SFs) identified through genomic sequencing are results unrelated to the primary indication but with potential clinical utility. While genomic technologies are increasingly utilized in perinata...
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy [0.03%]
PPIB基因中编码环腺苷酸-磷酸蛋白酶B的复发性错义突变是成年发病常染色体显性遗传视神经萎缩的基础
Katharina Valentin,Monika Kustermann,Mona R Schneider et al.
Katharina Valentin et al.
Purpose: Hereditary optic atrophy (OA) represents one of the leading causes of blindness. A relatively large number of genes, many of which are implicated in mitochondrial function, are known to be involved in OA. For man...
Real-world effects of using gnomAD 4.1.0 and AllofUs population reference datasets on reporting of variants of uncertain significance [0.03%]
gnomAD 4.1.0 和 All-of-Us 数据集在报告意义不明变异中的应用效果分析
Runjun D Kumar,Sarah A Paolucci,Brittany Williams et al.
Runjun D Kumar et al.
Purpose: Clinical testing of rare genetic variants relies on population genomic datasets as a source of evidence. New datasets from the Genome Aggregation Database (gnomAD) and AllofUs Research Program are many-fold large...
Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs [0.03%]
利用单案例实验设计克服罕见病患者治疗实施障碍的方法研究
Annelieke R Müller,Bibiche den Hollander,Agnies M van Eeghen et al.
Annelieke R Müller et al.
Treatments often do not reach individuals affected with a rare disease due to several barriers. Legislation generally requires that therapies for rare diseases are tested and licensed according to the same rules as established for common di...
HCSeeker: A Classification Tool for Human Genetic Variant Hot and Cold Spots Designed for PM1 and Benign Criteria in the ACMG-AMP Guideline [0.03%]
HCSeeker：一种分类工具，用于人类基因变异热点和冷点的分类，专为ACMG-AMP指南中的PM1和良性标准设计
Xinpan Yuan,Xingquan Xia,Jinchen Li et al.
Xinpan Yuan et al.
Purpose: The PM1 criterion, which states that a variant is located in a mutational hot spot and/or critical and well-established functional domain without benign variation (such as the active site of an enzyme), is consid...
Infantile-onset Pompe disease entering adulthood: insights from two decades of enzyme replacement therapy experience [0.03%]
婴儿发病庞贝病成人期的表现：基于二十年酶替代治疗经验的见解
Neha Regmi,Daniel Kenney-Jung,Grace Stafford et al.
Neha Regmi et al.
Purpose: This study details the long-term clinical outcomes in adult participants with CRIM-positive infantile-onset Pompe disease (IOPD) treated with enzyme replacement therapy (ERT), initially reported in 2012 (n=11). ...
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia [0.03%]
弗里德赖希共济失调的疾病严重程度和重复序列中断类型位置决定扩张规模的影响关系研究
Mehdi Benkirane,Cecilia Marelli,Ariane Choumert et al.
Mehdi Benkirane et al.
Purpose: In Friedreich ataxia (FRDA) the size of the smaller GAA expansion is a major determinant of disease severity; interruption motifs were identified after the discovery of the pathogenic expansions, but their impact...
Person-centered outcomes for liver glycogen storage diseases: development of an international consensus-based standard outcome set [0.03%]
以患者为中心的肝糖原累积病预后结局指标国际共识标准集的制定
Ruben J Overduin,Andrea B Haijer-Schreuder,Frederiec K Withaar et al.
Ruben J Overduin et al.
Purpose: Health care and clinical trials for persons with liver glycogen storage diseases (GSD) can be improved by a consensus-based standard set of person-centered health outcomes, including patient-reported outcome meas...