Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review [0.03%]
专业利益相关者对实施生殖遗传携带者筛查的态度：系统综述
Laurent Pasquier,Maryn Reyneke,Lauranne Beeckman et al.
Laurent Pasquier et al.
Reproductive genetic carrier screening (RGCS) for hundreds of different genetic conditions is technically available for prospective parents, but these tests have not been integrated in a public health policy except for specific sub-groups. ...
Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection [0.03%]
流行病中的社区遗传筛查：检查前教育，知情同意和样本采集的解决方案
Bronwyn Terrill,Lauren McKnight,Angela Pearce et al.
Bronwyn Terrill et al.
A Community Genetics carrier screening program for the Jewish community has operated on-site in high schools in Sydney (Australia) for 25 years. During 2020, in response to the COVID-19 pandemic, government-mandated social-distancing, 'lock...
Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia [0.03%]
平衡隐私保护和数据共享：澳大利亚基因组专业人士对患者基因组数据所有权的看法
Yuwan Malakar,Justine Lacey,Natalie A Twine et al.
Yuwan Malakar et al.
There are inherent complexities and tensions in achieving a responsible balance between safeguarding patients' privacy and sharing genomic data for advancing health and medical science. A growing body of literature suggests establishing pat...
New year, new genes [0.03%]
新年新基因
Alisdair McNeill
Alisdair McNeill
Christine Vianey-Saban,Alain Fouilhoux,Jerry Vockley et al.
Christine Vianey-Saban et al.
Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study [0.03%]
按基因型召回研究方法的参与者视角：对CHRIS研究参与者的一项混合嵌入式研究
Roberta Biasiotto,Maria Kösters,Katharina Tschigg et al.
Roberta Biasiotto et al.
Recall-by-genotype (RbG) research recruits participants previously involved in genetic research based on their genotype. RbG enables the further study of a particular variant of interest, but in recalling participants, it risks disclosing p...
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome [0.03%]
DYNC2H1相关骨骼纤毛病的临床可变性包括Ellis-van Creveld综合征
Francesca Piceci-Sparascio,Lucia Micale,Barbara Torres et al.
Francesca Piceci-Sparascio et al.
Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were f...
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome [0.03%]
X连锁的C1GALT1C1基因突变会导致非典型溶血性尿毒综合症
Noam Hadar,Ruth Schreiber,Marina Eskin-Schwartz et al.
Noam Hadar et al.
Hemolytic-uremic syndrome (HUS), mostly secondary to infectious diseases, is a common cause of acute kidney injury in children. It is characterized by progressive acute kidney failure due to severe thrombotic microangiopathy, associated wit...
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases [0.03%]
CDK13相关疾病：对语言能力的深入研究及新增的33例病例报告
Lottie D Morison,Olivia van Reyk,Elana Forbes et al.
Lottie D Morison et al.
Speech and language impairments are central features of CDK13-related disorder. While pathogenic CDK13 variants have been associated with childhood apraxia of speech (CAS), a systematic characterisation of communication has not been conduct...