Human Genomics

CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.

Proof of principle concept for the analysis and functional prediction of rare genetic variants in the CYP2C19 and CYP2D6 genes.

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.

The comprehensive potential of AQP1 as a tumor biomarker: evidence from kidney neoplasm cohorts, cell experiments and pan-cancer analysis.

AQP1 作为肿瘤生物标志物的综合潜力：来自肾脏肿瘤队列、细胞实验和泛癌分析的证据

Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia.

对中国一例脑桥小脑发育不全家族中一种新的TBC1D23致病变异进行鉴定和功能分析

A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review.

COL1A1 基因中一种新的剪接改变移码变异是 I 型成骨不全症的病因：对四代中国家系的分子特征分析及文献综述

Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3.

对 32 对患有神经发育障碍的双胞胎进行分子遗传学检测和队列分析——报告 TET3 的一个新的从头变异

Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.

对睑裂狭窄、上睑下垂和内眦赘皮 II 型综合征中一种新的 FOXL2 突变进行功能分析，并阐明基因型-表型相关性

A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.

家族性幼年关节炎中一种新的 LACC1 变异 c.658G>A (p. Asp220Asn)：鉴定和功能分析

A scRNA-seq reference contrasting living and early post-mortem human retina across diverse donor states.

一项针对不同供体状态的活体和早期死后人类视网膜的单细胞RNA测序参考研究