American Journal of Human Genetics

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

A semi-empirical Bayes approach for calibrating weak instrumental bias in sex-specific Mendelian randomization studies.

Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples.

Knockoff procedure improves susceptibility gene identifications in conditional transcriptome-wide association studies.

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

锌指同源框 4 基因 (ZFHX4) 功能丧失是神经发育障碍的根本原因

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network.

特纳综合征发育的同源 hiPSC 模型揭示了非活性 X 和 Y 在人类颅神经嵴网络中的共同作用

Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants.

与先天性巨结肠症相关的RET致病变异导致增殖和迁移缺陷的变异性

Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study.

通过全转录组关联研究鉴定与睾丸生殖细胞肿瘤易感性相关的基因

Cross-omics risk scores of inflammation markers are associated with all-cause mortality: The Canadian Longitudinal Study on Aging.

炎症标志物的跨组学风险评分与全因死亡率相关：加拿大老龄化纵向研究