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Journal of Human Genetics|December 14, 2018
Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncopeLiang-Liang Fan, Ya-Qin Chen, Hao Huang, et al.Annals of Clinical and Laboratory Science|December 22, 2017
Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3Rong Xiang, Ran Du, Shuai Guo, et al.Molecular Genetics & Genomic Medicine|November 7, 2020
A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney diseaseLiang-Liang Fan, Lv Liu, Fang-Mei Luo, et al.Molecular Biology Reports|September 4, 2024
A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegiaYu-Han Jin, Yang-Ziyu Xiang, Mei-Fang Zhao, et al.Journal of Cellular and Molecular Medicine|October 28, 2017
Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden deathHao Huang, Ya-Qin Chen, Liang-Liang Fan, et al.Clinical Chemistry and Laboratory Medicine|September 13, 2018
A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patientLiang-Liang Fan, Dong-Bo Ding, Hao Huang, et al.Gene|February 6, 2014
A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosisRong Xiang, Liang-Liang Fan, Hao Huang, et al.Experimental and Therapeutic Medicine|April 1, 2021
Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal diseaseAi-Qian Zhang, Yu-Xing Liu, Jie-Yuan Jin, et al.Molecular Syndromology|May 20, 2021
Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple OsteochondromasChen-Yu Wang, Fang Yu, Jie-Yuan Jin, et al.Cardiology|August 22, 2016
Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated CardiomyopathyJi-Shi Liu, Liang-Liang Fan, Hao Zhang, et al.Pageof 10