Correspondence on "Parents' perceptions of the utility of genetic testing in the NICU" by Callahan et al [0.03%]
Callahan等关于“NICU遗传筛查实用性的家长认知”的信件交流
Sally L Sansom,Chloe Mighton,Hadley Stevens Smith
Sally L Sansom
Wendy E Smith,Barbara K Burton,Christine Brown et al.
Wendy E Smith et al.
Evaluating Pregnancy and Neonatal Outcomes in Mothers with Genetic Disease using electronic healthcare records [0.03%]
基于电子健康档案评估遗传性疾病母亲的妊娠和新生儿结局
Rory J Tinker,Lucas D Richter,Yutaka Furuta et al.
Rory J Tinker et al.
Purpose: The effect of Mendelian disorders on pregnancy and neonatal outcomes is poorly understood due to their rarity and the challenge of compiling complete prenatal and postnatal records. ...
RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders: a systematic review [0.03%]
基于神经发育障碍的系统评价：RNA序列提供新的诊断机会
Jessica Rosenblum,Ellen Rijckmans,Randy Osei et al.
Jessica Rosenblum et al.
Purpose: Transcriptomics by way of RNA sequencing (RNAseq) has emerged as a means to increase the diagnostic yield in genetic conditions. In this systematic review, we focus on the contribution of transcriptomics to impro...
Heterozygous Loss of OSR2 Can Cause Radio-Ulnar Synostosis with Ancillary Skeletal Manifestations [0.03%]
复合杂合的OSR2突变导致桡尺融合症并伴骨骼异常
Mei Deng,Cheng Liu,Fang Shen et al.
Mei Deng et al.
Purpose: Although radioulnar synostosis (RUS) and other skeletal anomalies are features of the 8q22.2q22.3 microdeletion syndrome, the precise genetic etiology of RUS remains undefined. Here, we aimed to definethe genetic...
Shawn E McCandless
Shawn E McCandless
Real-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence [0.03%]
重组人生长激素类似物vosoritide治疗软骨发育不全的多国临床证据系统评价和荟萃分析
Anna Luiza Braga Albuquerque,Maria Inez Dacoregio,Cainã Gonçalves Rodrigues et al.
Anna Luiza Braga Albuquerque et al.
Purpose: Achondroplasia is the most common skeletal dysplasia, caused by gain-of-function variants in FGFR3, resulting in constitutive receptor activation and downstream inhibition of endochondral ossification. In 2021, t...
Barriers and facilitators to implementing clinical genome-wide sequencing: A scoping review of the global landscape [0.03%]
实施临床全外显子组测序的障碍与促进因素：全球格局综述
Whiwon Lee,Joyce Yan,Katharine Fooks et al.
Whiwon Lee et al.
Purpose: The global demand for clinical genome-wide sequencing (GWS) continues to grow. This study describes the global landscape of genetic service delivery and the barriers and facilitators to implementing clinical GWS....
Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives [0.03%]
以公平为重点的实施方案，提高罕见疾病基因组学研究的参与度并理解多元视角
Eva Martinez,Jillian Serrano,Siwaar Abouhala et al.
Eva Martinez et al.
Purpose: Rare disease genomic research suffers from a lack of diverse participation. We therefore implemented and evaluated a multi-faceted intervention to support recruitment of populations previously-underrepresented by...
Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and epilepsy [0.03%]
GSPT2中潜在与X-连锁神经发育障碍（智力残疾，语言障碍，自闭症和癫痫）相关的有害蛋白质变异体
Yuda Wei,Kai Liu,Changrui Mi et al.
Yuda Wei et al.
Purpose: Approximately 6% of individuals with neurodevelopmental disorders are predicted to be X-linked, and the GSPT2 gene, located at Xp11.22, has not yet been associated with any Mendelian disease. ...