Journal Publications

• [1]Tang J X, Xiang R, Xiao X S, Wang K, Jin J Y, Fan L L.Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate[J].Biomed Res Int, 2020, 2020: 1-6.
• [2]Fan L L, Guo S, Xiang R, Zhao W, Jin J Y, He Z J, Zhao S P.Whole Exome Sequencing Identified a 13 Base Pair MYH7 Deletion-mutation in a Patient With Restrictive Cardiomyopathy and Left Ventricle Hypertrophy[J].Ann Clin Lab Sci, 2019, 49 (6) : 838-840.
• [3]Yu F, Jin J Y, Tang J Y, Xiang R, He J Q, Fan L L, Wu P F.Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families[J].Int J Clin Exp Pathol, 2019, 12 (8) : 2981-2988.
• [4]Tang J Y, Xiang R, Huang H, Pang X, He J Q, Li K, Zeng L, Jin J Y.A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia[J].J Gene Med, 2019, 21 (10) : e3122.
• [5]Xiang R, Du R, Huang H, Liu J S, Fan L L.Whole exome sequencing identified a novel mutation (p. Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis[J].J Gene Med, 2019, 21 (2-3) : e3073.
• [6]Xiang R, Chen Y Q, Li J J, Jin J Y, Huang H, Fan L L.Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia[J].Cytogenet Genome Res, 2019, 157 (3) : 148-152.
• [7]Xiang R, Hu M, Jin J Y, Yuan Z Z, Huang H, Chen Y Q, Fan L L.Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope[J].J Hum Genet, 2019, 64 (3) : 233-238.
• [8]Xiang R, Jin J Y, Li J J, Huang H, Fan L L, Liu Y X, Zhang S B.A Novel Heterozygous Variant p.(Trp538Arg) of SYNM is Identified by Whole-exome Sequencing In a Chinese Family with Dilated Cardiomyopathy[J].Ann Hum Genet, 2019, 83 (2) : 95-99.
• [9]Xiang R, Xia K, Jin J Y, Chen Y Q, Huang H, Ding D B, Fan L L.A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient[J].Clin Chem Lab Med, 2019, 57 (4) : 532-539.
• [10]Xia K, Yan R Q, Du R, Jin J Y, Li J J, Guo S, He W X, Chen Y Q, Huang H, Fan L L, Xiang R.Increased Reticulon 3 (RTN3) Leads to Obesity and hypertriglyceridemia by Interacting With Heat Shock Protein Family A (Hsp70) Member 5 (HSPA5)[J].Circulation, 2018, 138 (17) : 1828-1838.
• [11]Tang J Y, Xiang R, Zhou Z B, Fan L L, Jin J Y, Fan X F, Guo S.A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity[J].Mol Cytogenet, 2018, 2018 (11) : 8.
• [12]Xiang R, Liu Z H, Guo S, Chen Y Q, Huang H, Xiao Z, Fan L L, Ding D B.A novel mutation of dipeptidyl aminopeptidase-like protein-6 in a family with suspicious idiopathic ventricular fibrillation[J].QJM-Int J Med, 2018, 111 (6) : 373-377.
• [13]Xiang R, Chen Y Q, Guo S, Li J J, Jin J Y, Fan L L, Ding D B, Huang H.Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia[J].Cardiol Young, 2018, 28 (5) : 688-691.
• [14]Xiang R, Guo S, Jin J Y, Fan L L, Chen Y Q, Li J J.Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patient[J].Mol Cell Probes, 2018, 37 (2018) : 28-31.
• [15]Xiang R, Zhao S P, Chen Y Q, Li J J, Jin J Y, Huang H, Fan L L.Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease[J].Gene, 2018, 648 (2018) : 63-67.
• [16]Xiang R, Jin J Y, Li J J, Guo S, Fan L L, Chen Y Q, Huang H.Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death[J].J Cell Mol Med, 2018, 22 (2) : 1350-1354.
• [17]Xiang R, Tang J Y, Zeng L, Huang H, Fan X F, Li J J, Yu F, Fan L L, Wu P F, Jin J Y.A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I[J].Int J Clin Exp Pathol, 2017, 10 (11) : 11137-11142.
• [18]Zhou Z B, Tang J Y, Fan L L, Jin J Y, Guo S, Du R, Xiang R.Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3[J].Ann Clin Lab Sci, 2017, 47 (6) : 754-757.
• [19]Zhang H, Xia K, Li L, Fan L L, Liu J S, Li J J, Xiang R.Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5[J].Int J Clin Exp Pathol, 2017, 10 (8) : 8709-8714.
• [20]Wang F, Xia K, Jin J Y, Fan L L, Li J J, Xiang R.Identification of a compound heterozygous mutation of ABCC2 in a patient with hyperbilirubinemia[J].Mol Med Rep, 2017, 16 (3) : 2830-2834.