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Scientific Reports|May 8, 2026
A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosisAi-Qian Zhang, Jie-Yi Long, Wei Xue, et al.
BMC Cardiovascular Disorders|October 1, 2024
Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmiaQian Wang, Yong Deng, Liang-Liang Fan, et al.
Frontiers in Genetics|November 29, 2023
Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patientShan-Yu Gao, Yu-Xing Liu, Yi Dong, et al.
Molecular Medicine Reports|July 18, 2017
Identification of a compound heterozygous mutation of ABCC2 in a patient with hyperbilirubinemiaRong Xiang, Jing-Jing Li, Liang-Liang Fan, et al.
Frontiers in Cardiovascular Medicine|November 26, 2020
A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese PatientZhuang-Zhuang Yuan, Liang-Liang Fan, Zi-Chen Jiang, et al.
Journal of Zhejiang University. Science. B|September 4, 2014
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defectJi-jia Liu, Liang-liang Fan, Jin-lan Chen, et al.
Molecular Biomedicine|October 10, 2025
Lipin3 deficiency promotes hepatocyte ferroptosis and pyroptosis via activating JAK1-STAT3 pathway during acetaminophen induced acute liver injuryYu-Xing Liu, Qian Wang, Zi-Yu Xiangyang, et al.
Biomed Research International|November 5, 2020
Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and PalateJian-Xia Tang, Xiang-Shui Xiao, Kai Wang, et al.
Molecular and Cellular Probes|November 14, 2017
Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patientJing-Jing Li, Ya-Qin Chen, Liang-Liang Fan, et al.
Frontiers in Pediatrics|December 16, 2021
A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and PolydactylyTao Wang, Yu-Xing Liu, Fang-Mei Luo, et al.
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