Elusive variants in autosomal recessive disease: how can we improve timely diagnosis? [0.03%]
常染色体隐性疾病的难觅变异：我们如何才能实现及时诊断？
Ari E Horton,Sebastian Lunke,Simon Sadedin et al.
Ari E Horton et al.
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria [0.03%]
关于Alport综合征分子诊断标准和指南的共识声明：改进ACMG标准
Judy Savige,Helen Storey,Elizabeth Watson et al.
Judy Savige et al.
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss [0.03%]
染色体变异导致的琼斯综合征基因原因：REST基因突变引起牙龈纤维瘤病和听力丧失
Yoko Nakano,Botond Bánfi
Yoko Nakano
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women [0.03%]
基于75156例欧洲女性的病例对照关联研究发现FANCM错义变异与乳腺癌风险相关
Gisella Figlioli,Amandine Billaud,Thomas U Ahearn et al.
Gisella Figlioli et al.
Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a...
Correction: The 2019 and 2021 International workshops on Alport syndrome [0.03%]
更正：2019年和2021年Alport综合征国际研讨会
Sergio Daga,Jie Ding,Constantinos Deltas et al.
Sergio Daga et al.
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders [0.03%]
临床外显子重新分析在两个隐性遗传疾病个体中识别出第二种变异体
Qifei Li,Rohan Agrawal,Klaus Schmitz-Abe et al.
Qifei Li et al.
Clinical exome/genome sequencing is increasingly being utilized by clinicians to diagnose various likely genetic conditions, but many cases remain undiagnosed. In a subset of those undiagnosed cases, a single heterozygous variant in an auto...
"I am not a number!" Opinions and preferences of people with intellectual disability about genetic healthcare [0.03%]
“我不是一个数字！”关于遗传保健，智障人士的观点和偏好
Iva Strnadová,Julie Loblinzk,Jackie Leach Scully et al.
Iva Strnadová et al.
There is limited research exploring the knowledge and experiences of genetic healthcare from the perspective of people with intellectual disability. This study, conducted in New South Wales (Australia), addresses this gap. Eighteen adults w...
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells [0.03%]
纠正：治愈Alport综合症的新领域：足细胞谱系细胞中的COL4A3和COL4A5基因编辑
Sergio Daga,Francesco Donati,Katia Capitani et al.
Sergio Daga et al.
ParseCNV2: a versatile and integrated tool for copy number variation association studies [0.03%]
ParseCNV2：用于拷贝数变异关联研究的通用型整合工具
Tze Y Lim,Miguel Verbitsky,Simone Sanna-Cherchi
Tze Y Lim