1、Wang T, Liu YX, Luo FM, Dong Y, Li YL, Fan LL.A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly. Front Pediatr. 2021 Nov 29;9:774575. doi: 10.3389/fped.2021.774575. eCollection 2021.PMID: 34912761

2、Jin JY, Wu LP, Dong Y, Pi HC, Wu HF, Xiang R.Identification of a novel GATA binding protein 5 variant (c.830C>T/p.P277L) damaging the nuclear translocation and causing tetralogy of Fallot. QJM. 2021 Dec 14:hcab317. doi: 10.1093/qjmed/hcab317. Online ahead of print.PMID: 34904678

3、Yuan ZZ, Fan LL, Wang CY, Luo H, Liu L.Novel heterozygous mutation of RTEL1 in Interstitial pneumonia with autoimmune feature.QJM. 2021 Dec 11:hcab315. doi: 10.1093/qjmed/hcab315. Online ahead of print.PMID: 34894270

4、Liu YX, Liu L, Dong Y, Zhao M, Sheng Y, Fan LL.Novel heterozygous mutation of MCTP2 gene in a patient with coarctation of the aorta. QJM. 2021 Dec 8:hcab310. doi: 10.1093/qjmed/hcab310. Online ahead of print.PMID: 34878133

5、Lv X, Wu P, Xiao S, Zhang W, Li Y, Ren B, Li Z, Xia K, Wang B.Matrix Metalloproteinases in Relation to Bone Mineral Density: A Two-Sample Mendelian Randomization Study. Front Genet. 2021 Nov 18;12:754795. doi: 10.3389/fgene.2021.754795. eCollection 2021.PMID: 34868227

6、Jin JY, Guo BB, Dong Y, Sheng Y, Fan LL, Zhang LB.Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family. Front Genet. 2021 Oct 29;12:743184. doi: 10.3389/fgene.2021.743184. eCollection 2021.PMID: 34777470

7、Peng G, Gu A, Niu H, Chen L, Chen Y, Zhou M, Zhang Y, Liu J, Cai L, Liang D, Liu X, Liu M.Amyotrophic lateral sclerosis (ALS) linked mutation in Ubiquilin 2 affects stress granule assembly via TIA-1.CNS Neurosci Ther. 2022 Jan;28(1):105-115. doi: 10.1111/cns.13757. Epub 2021 Nov 8.PMID: 34750982

8、Dai W, Li JD, Wang X, Zeng W, Jiang F, Zheng R.Discovery of a Novel Variant of SEMA3A in a Chinese Patient with Isolated Hypogonadotropic Hypogonadism. Int J Endocrinol. 2021 Oct 21;2021:7752526. doi: 10.1155/2021/7752526. eCollection 2021.PMID: 34721574

9、Li S, Yang S, Zhou Y, Disoma C, Dong Z, Du A, Zhang Y, Chen Y, Huang W, Chen J, Song D, Chen Z, Liu P, Li S, Zheng R, Liu S, Razzaq A, Chen X, Tao S, Yu C, Feng T, Liao W, Peng Y, Jiang T, Huang J, Wu W, Hu L, Wang L, Li S, Xia Z. Microbiome Profiling Using Shotgun Metagenomic Sequencing Identified Unique Microorganisms in COVID-19 Patients With Altered Gut Microbiota.Front Microbiol. 2021 Oct 11;12:712081. doi: 10.3389/fmicb.2021.712081. eCollection 2021.PMID: 34707577

10、Teng H, Liang C, Liang D, Li Z, Wu L.Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization. Clin Chim Acta. 2021 Dec;523:297-303. doi: 10.1016/j.cca.2021.10.012. Epub 2021 Oct 16.PMID: 34666032

11、Xiao X, Zhang CY, Zhang Z, Hu Z, Li M, Li T.Revisiting tandem repeats in psychiatric disorders from perspectives of genetics, physiology, and brain evolution. Mol Psychiatry. 2021 Oct 14. doi: 10.1038/s41380-021-01329-1. Online ahead of print.PMID: 34650204 Review.

12、Men M, Chen DN, Li JD, Wang X, Zeng W, Jiang F, Zheng R, Dai W.Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism. Mol Genet Genomic Med. 2021 Nov;9(11):e1816. doi: 10.1002/mgg3.1816. Epub 2021 Oct 11.PMID: 34636164

13、Zhang L, Hu H, Liang D, Li Z, Wu L.Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE.Front Genet. 2021 Sep 24;12:722694. doi: 10.3389/fgene.2021.722694. eCollection 2021.PMID: 34630518

14、Hu S, Tan J, Qin L, Lv L, Yan W, Zhang H, Tang B, Wang C.Molecular chaperones and Parkinson's disease. Neurobiol Dis. 2021 Dec;160:105527. doi: 10.1016/j.nbd.2021.105527. Epub 2021 Oct 7.PMID: 34626793 Review.

15、Wang Y, Teng Y, Liang D, Li Z, Wu L.Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa.Front Genet. 2021 Sep 9;12:715100. doi: 10.3389/fgene.2021.715100. eCollection 2021.PMID: 34567070

16、Huang H, Chen Y, Jin J, Du R, Tang K, Fan L, Xiang R.CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family.J Gene Med. 2021 Sep 23:e3390. doi: 10.1002/jgm.3390. Online ahead of print.PMID: 34558151

17、Li M, Zhang J, Zhou H, Xiang R.Primary Cilia-Related Pathways Moderate the Development and Therapy Resistance of Glioblastoma.Front Oncol. 2021 Aug 26;11:718995. doi: 10.3389/fonc.2021.718995. eCollection 2021.PMID: 34513696 Review.

18、Yuan ZZ, Xie XH, Gu H, Zhang WZ, Hu YQ, Yang YF, Tan ZP.Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome. Front Cardiovasc Med. 2021 Aug 13;8:708033. doi: 10.3389/fcvm.2021.708033. eCollection 2021.PMID: 34485408

19、Wu PF, Zhang XH, Zhou P, Yin R, Zhou XT, Zhang W. Growth Differentiation Factor 15 Is Associated With Alzheimer's Disease Risk. Front Genet. 2021 Aug 13;12:700371. doi: 10.3389/fgene.2021.700371. eCollection 2021.PMID: 34484296

20、Jin JY, Zeng L, Guo BB, Dong Y, Tang JY, Xiang R.Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing. Front Genet. 2021 Aug 11;12:705973. doi: 10.3389/fgene.2021.705973. eCollection 2021.PMID: 34456975

21、Yang CB, Liu J, Tong BC, Wang ZY, Zhu Z, Su CF, Sreenivasmurthy SG, Wu JX, Iyaswamy A, Krishnamoorthi S, Huang SY, Cheung KH, Song JX, Tan JQ, Lu JH, Li M.TFEB, a master regulator of autophagy and biogenesis, unexpectedly promotes apoptosis in response to the cyclopentenone prostaglandin 15d-PGJ2. Acta Pharmacol Sin. 2021 Aug 20. doi: 10.1038/s41401-021-00711-7. Online ahead of print.PMID: 34417577

22、Zhao R, Zhu T, Liu Q, Tian Q, Wang M, Chen J, Tong D, Yu B, Guo H, Xia K, Qiu Z, Hu Z. The autism risk gene CNTN4 modulates dendritic spine formation. Hum Mol Genet. 2021 Aug 20:ddab233. doi: 10.1093/hmg/ddab233. Online ahead of print.PMID: 34415325

23、Liu YX, Zhang AQ, Luo FM, Sheng Y, Wang CY, Dong Y, Fan L, Liu L.Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis. Front Pediatr. 2021 Aug 2;9:687455. doi: 10.3389/fped.2021.687455. eCollection 2021.PMID: 34408996

24、You Y, Yang X, Hung D, Yang Q, Wu T, Deng M.Asymptomatic COVID-19 infection: diagnosis, transmission, population characteristics.BMJ Support Palliat Care. 2021 Jul 30:bmjspcare-2020-002813. doi: 10.1136/bmjspcare-2020-002813. Online ahead of print.PMID: 34330791 Review.

25、Dong S, Tian Q, Zhu T, Wang K, Lei G, Liu Y, Xiong H, Shen L, Wang M, Zhao R, Wu H, Li B, Zhang Q, Yao Y, Guo H, Xia K, Xia L, Hu Z.SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis. J Cell Mol Med. 2021 Sep;25(17):8432-8441. doi: 10.1111/jcmm.16803. Epub 2021 Jul 24.PMID: 34302427

26、Wu T, Kang S, Peng W, Zuo C, Zhu Y, Pan L, Fu K, You Y, Yang X, Luo X, Jiang L, Deng M. Original Hosts, Clinical Features, Transmission Routes, and Vaccine Development for Coronavirus Disease (COVID-19).Front Med (Lausanne). 2021 Jul 6;8:702066. doi: 10.3389/fmed.2021.702066. eCollection 2021.PMID: 34295915 Review.

27、Liu J, Liu Q, Yang S, Ma N, Pang J, Peng Y, Xi H, Jia Z, Luo Y, Jiang M, Teng Y, Yu W, Li Z, Wang H.Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review. Mol Genet Genomic Med. 2021 Aug;9(8):e1750. doi: 10.1002/mgg3.1750. Epub 2021 Jul 22.PMID: 34293831

28、Liu YH, Zhang HF, Jin JY, Wei YQ, Wang CY, Fan LL, Liu L.Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome. Front Aging Neurosci. 2021 Jun 29;13:671296. doi: 10.3389/fnagi.2021.671296. eCollection 2021.PMID: 34267643

29、Luo FM, Fan LL, Sheng Y, Dong Y, Liu L.Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.Front Pediatr. 2021 Jun 18;9:679279. doi: 10.3389/fped.2021.679279. eCollection 2021.PMID: 34222148

30、Wang S, Wu T, Zuo Z, Jin P, Luo X, Deng M.Comparison of cardiovascular outcomes and cardiometabolic risk factors between patients with type 2 diabetes treated with sodium-glucose cotransporter-2 inhibitors and dipeptidyl peptidase-4 inhibitors: a meta-analysis.Eur J Prev Cardiol. 2021 Jun 17:zwab099. doi: 10.1093/eurjpc/zwab099. Online ahead of print.PMID: 34136913

31、Zhou J, Li M, Wang X, He Y, Xia Y, Sweeney JA, Kopp RF, Liu C, Chen C. Drug Response-Related DNA Methylation Changes in Schizophrenia, Bipolar Disorder, and Major Depressive Disorder.Front Neurosci. 2021 May 13;15:674273. doi: 10.3389/fnins.2021.674273. eCollection 2021.PMID: 34054421 Review.

32、Wang CY, Yu F, Jin JY, He JQ, Fan LL, Tang JY, Xiang R.Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas. Mol Syndromol. 2021 Apr;12(2):96-100. doi: 10.1159/000512856. Epub 2021 Feb 16.PMID: 34012378

33、Wang Y, Wei Q, Chen Y, Long S, Yao Y, Fu K.Identification of Hub Genes Associated With Sensitivity of 5-Fluorouracil Based Chemotherapy for Colorectal Cancer by Integrated Bioinformatics Analysis.Front Oncol. 2021 Apr 12;11:604315. doi: 10.3389/fonc.2021.604315. eCollection 2021.PMID: 33912443

34、Wu P, Zhang X, Zhou P, Zhang W, Li D, Lv M, Liao X.Assessment of Bidirectional Relationships Between Polycystic Ovary Syndrome and Periodontitis: Insights From a Mendelian Randomization Analysis.Front Genet. 2021 Mar 26;12:644101. doi: 10.3389/fgene.2021.644101. eCollection 2021.PMID: 33868379

35、Zou Z, Hu X, Luo T, Ming Z, Chen X, Xia L, Luo W, Li J, Xu N, Chen L, Cao D, Wen M, Kong F, Peng K, Xie Y, Li X, Ma D, Yang C, Chen C, Yi W, Liu O, Liu S, Luo J, Luo Z.Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor. Nat Commun. 2021 Apr 15;12(1):2263. doi: 10.1038/s41467-021-22235-8.PMID: 33859183

36、Zhao J, Xue J, Zhu T, He H, Kang H, Jiang X, Huang W, Duan R. Dysregulated CRMP Mediates Circadian Deficits in a Drosophila Model of Fragile X Syndrome.Neurosci Bull. 2021 Jul;37(7):973-984. doi: 10.1007/s12264-021-00682-z. Epub 2021 Apr 15.PMID: 33856646

37、Gao S, Liu L, Li Z, Pang Y, Shi J, Zhu F.Seven Novel Genes Related to Cell Proliferation and Migration of VHL-Mutated Pheochromocytoma. Front Endocrinol (Lausanne). 2021 Mar 22;12:598656. doi: 10.3389/fendo.2021.598656. eCollection 2021.PMID: 33828526

38、Huang H, Zhao J, Wang TY, Zhang S, Zhou Y, Rao Y, Qin C, Liu Y, Chen Y, Xia Z, Feng P. Species-Specific Deamidation of RIG-I Reveals Collaborative Action between Viral and Cellular Deamidases in HSV-1 Lytic Replication. mBio. 2021 Mar 30;12(2):e00115-21. doi: 10.1128/mBio.00115-21.PMID: 33785613

39、Chen M, Quan Y, Duan G, Wu H, Bai T, Wang Y, Zhou S, Ou J, Shen Y, Hu Z, Xia K, Guo H. Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders. Eur J Med Genet. 2021 May;64(5):104200. doi: 10.1016/j.ejmg.2021.104200. Epub 2021 Mar 23.PMID: 33766796

40、Guo BB, Jin JY, Yuan ZZ, Zeng L, Xiang R.A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia. Biomed Res Int. 2021 Mar 8;2021:6678531. doi: 10.1155/2021/6678531. eCollection 2021.PMID: 33748277

41、Li D, Li F, Meng L, Wei H, Zhang Q, Jiang F, Chen DN, Li W, Tan YQ, Li JD.RNF216 regulates meiosis and PKA stability in the testes. FASEB J. 2021 Apr;35(4):e21460. doi: 10.1096/fj.202002294RR.PMID: 33724554

42、Zhang CY, Xiao X, Zhang Z, Hu Z, Li M. An alternative splicing hypothesis for neuropathology of schizophrenia: evidence from studies on historical candidate genes and multi-omics data. Mol Psychiatry. 2021 Mar 8. doi: 10.1038/s41380-021-01037-w. Online ahead of print.PMID: 33686213 Review.

43、Luo FM, Deng MX, Yu R, Liu L, Fan LL.Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.Front Neurosci. 2021 Feb 10;15:604715. doi: 10.3389/fnins.2021.604715. eCollection 2021.PMID: 33679298

44、Zhang Q, Pan Y, Ma X, Yang H, Chang J, Hong L, Yan H, Zhang SH.Elevated Secretion of Aldosterone Increases TG/HDL-C Ratio and Potentiates The Ox-LDL-Induced Dysfunction of HUVEC. Cell J. 2021 Apr;23(1):61-69. doi: 10.22074/cellj.2021.7033. Epub 2021 Mar 1.PMID: 33650821

45、Zuo Z, Wu T, Pan L, Zuo C, Hu Y, Luo X, Jiang L, Xia Z, Xiao X, Liu J, Ye M, Deng M. Modalities and Mechanisms of Treatment for Coronavirus Disease 2019. Front Pharmacol. 2021 Feb 8;11:583914. doi: 10.3389/fphar.2020.583914. eCollection 2020.PMID: 33643033 Review.

46、Wang M, Liao J, Tan C, Zhou H, Wang J, Wang K, Li Y, Wu W.Integrated study of miR-215 promoting breast cancer cell apoptosis by targeting RAD54B. J Cell Mol Med. 2021 Apr;25(7):3327-3338. doi: 10.1111/jcmm.16402. Epub 2021 Feb 26.PMID: 33635591

47、Chen C, Qin H, Tang J, Hu Z, Tan J, Zeng L.USP30 protects against oxygen-glucose deprivation/reperfusion induced mitochondrial fragmentation and ubiquitination and degradation of MFN2. Aging (Albany NY). 2021 Feb 19;13(4):6194-6204. doi: 10.18632/aging.202629. Epub 2021 Feb 19.PMID: 33609088

48、Du A, Zheng R, Disoma C, Li S, Chen Z, Li S, Liu P, Zhou Y, Shen Y, Liu S, Zhang Y, Dong Z, Yang Q, Alsaadawe M, Razzaq A, Peng Y, Chen X, Hu L, Peng J, Zhang Q, Jiang T, Mo L, Li S, Xia Z. pigallocatechin-3-gallate, an active ingredient of Traditional Chinese Medicines, inhibits the 3CLpro activity of SARS-CoV-2. Int J Biol Macromol. 2021 Apr 15;176:1-12. doi: 10.1016/j.ijbiomac.2021.02.012. Epub 2021 Feb 4.PMID: 33548314

49、Chen C, Peng X, Tang J, Hu Z, Tan J, Zeng L.CDK5 inhibition protects against OGDR induced mitochondrial fragmentation and apoptosis through regulation of Drp1S616 phosphorylation. Life Sci. 2021 Mar 15;269:119062. doi: 10.1016/j.lfs.2021.119062. Epub 2021 Jan 18.PMID: 33476635

50、Ahmed A, Wang M, Khan R, Shah AA, Guo H, Malik S, Xia K, Hu Z. A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred. BMC Med Genomics. 2021 Jan 4;14(1):2. doi: 10.1186/s12920-020-00859-x.PMID: 33397372

51、Sun J, Ye F, Wu A, Yang R, Pan M, Sheng J, Zhu W, Mao L, Wang M, Xia Z, Huang B, Tan W, Jiang T. Comparative Transcriptome Analysis Reveals the Intensive Early Stage Responses of Host Cells to SARS-CoV-2 Infection. Front Microbiol. 2020 Nov 25;11:593857. doi: 10.3389/fmicb.2020.593857. eCollection 2020.PMID: 33324374

52、Wang M, Liao J, Wang J, Qi M, Wang K, Wu W. TAF1A and ZBTB41 serve as novel key genes in cervical cancer identified by integrated approaches. Cancer Gene Ther. 2021 Dec;28(12):1298-1311. doi: 10.1038/s41417-020-00278-1. Epub 2020 Dec 12.PMID: 33311601