A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts [0.03%]
BCOR基因罕见双等位杂合嵌合型变异导致双眼前段发育不良和白内障
Daphna Mezad-Koursh,Eldar Rosenfeld,Anat Bachar Zipori et al.
Daphna Mezad-Koursh et al.
Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gen...
How does the genomic naive public perceive whole genomic testing for health purposes? A scoping review [0.03%]
公众如何感知用于健康目的的全基因组检测？一项综述研究
Isabella A Sherburn,Keri Finlay,Stephanie Best
Isabella A Sherburn
The benefits of genomic testing are primarily reported in rare disease, cancer diagnosis and disease management. However, as research into its application in common, more complex conditions grows, as well as the increased prevalence of carr...
Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke [0.03%]
更新的卒中基因谱系：关于单基因卒中的快速知识演变
Andreea Ilinca,Andreas Puschmann,Jukka Putaala et al.
Andreea Ilinca et al.
This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and a...
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review [0.03%]
家系BRCA或林奇综合征患者介导干预促进遗传风险披露的系统性回顾
Alison Luk Young,Aalya Imran,Michael J Spoelma et al.
Alison Luk Young et al.
Interventions to assist family communication about inherited cancer risk have the potential to improve family cancer outcomes. This review aimed to evaluate the efficacy of proband-mediated interventions employed within genetics clinics to ...
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population [0.03%]
人群中的单基因遗传性癫痫基因缺陷型变异相关的表型谱系分析
Victoria Smuk,Javier A López-Rivera,Costin Leu et al.
Victoria Smuk et al.
Variants in monogenic epilepsy genes can cause phenotypes of varying severity. For example, pathogenic variants in the SCN1A gene can cause the severe, sporadic, and drug-resistant Dravet syndrome or the milder familiar GEFS + syndrome. We ...
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy [0.03%]
LDB3双等位基因丢失导致一种致命的儿童扩张型心肌病
Tamara T Koopmann,Yalda Jamshidi,Mohammad Naghibi-Sistani et al.
Tamara T Koopmann et al.
Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displayin...
Correction to: Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder [0.03%]
Correction to：CDKL5缺陷症主要运动里程碑达成的影响因素
Kingsley Wong,Mohammed Junaid,Scott Demarest et al.
Kingsley Wong et al.
Commentary: Von Hippel-Lindau disease: A clinical and scientific review [0.03%]
评论：Von Hippel-Lindau病的临床和科学研究综述
Malak Abedalthagafi
Malak Abedalthagafi
Reuben J Pengelly
Reuben J Pengelly