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Chen, C., Zhang, C., Cheng, L., Reilly, J.L., Bishop, J.R., Sweeney, J.A., Chen, H.Y., Gershon, E.S., and Liu, C. (2014). Correlation between DNA methylation and gene expression in the brains of patients with bipolar disorder and schizophrenia. Bipolar Disord, 16(8): 790-799.

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Chen, D.N., Ma, Y.T., Liu, H., Zhou, Q.Y., and Li, J.D. (2014). Functional Rescue of Kallmann Syndrome-associated PKR2 Receptor Mutants Deficient in Trafficking. J Biol Chem, 289(22): 15518-15526.

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de la Cruz, I.P., Ma, L., and Horvitz, H.R. (2014). The Caenorhabditis elegans iodotyrosine deiodinase ortholog SUP-18 functions through a conserved channel SC-box to regulate the muscle two-pore domain potassium channel SUP-9. PLoS Genet, 10(2): e1004175.

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Deng, L., Peng, Y., Liu, J., Wen, J., Xia, Y., Liang, D., and Wu, L. (2014). Brief report. Adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation. Birth Defects Res A Clin Mol Teratol, 100(4): 294-299.

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Du, R.F., Huang, H., Fan, L.L., Li, X.P., Xia, K., and Xiang, R. (2014). A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases. Ophthalmic Genet,10.3109/13816810.2014.924016: 1-5.

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Duan, R., Sharma, S., Xia, Q., Garber, K., and Jin, P. (2014). Towards understanding RNA-mediated neurological disorders. J Genet Genomics, 41(9): 473-484.

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Edens, B.M., Ajroud-Driss, S., Ma, L., and Ma, Y.C. (2014). Molecular mechanisms and animal models of spinal muscular atrophy. Biochim Biophys Acta, 10.1016/j.bbadis.2014.07.024: [Epub ahead of print].

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Gao, X., Teng, Y., Luo, J., Huang, L., Li, M., Zhang, Z., Ma, Y.C., and Ma, L. (2014). The survival motor neuron gene smn-1 interacts with the U2AF large subunit gene uaf-1 to regulate Caenorhabditis elegans lifespan and motor functions. RNA Biol, 10.4161/rna.36100: [Epub ahead of print].

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Grennan, K.S., Chen, C., Gershon, E.S., and Liu, C. (2014). Molecular network analysis enhances understanding of the biology of mental disorders. Bioessays, 36(6): 606-616.

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Guo, H., Jin, X., Zhu, T., Wang, T., Tong, P., Tian, L., Peng, Y., Sun, L., Wan, A., Chen, J., Liu, Y., Li, Y., Tian, Q., Xia, L., Zhang, L., Pan, Y., Lu, L., Liu, Q., Shen, L., Xiong, W., Li, J., Tang, B., Feng, Y., Zhang, X., Zhang, Z., Pan, Q., Hu, Z., and Xia, K. (2014). SLC39A5 mutations interfering with the BMP/TGF-beta pathway in non-syndromic high myopia. J Med Genet, 51(8): 518-525.

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He, F., Wang, X., Cai, X., Peng, H., Zhang, L., Zhu, T., Xia, K., Pan, Q., and Hu, Z. (2014). Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family. J Dermatol, 10.1111/1346-8138.12696: [Epub ahead of print].

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He, M., Tang, B.S., Li, N., Mao, X., Li, J., Zhang, J.G., Xiao, J.J., Wang, J., Jiang, H., Shen, L., Guo, J.F., Xia, K., and Wang, J.L. (2014). Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2. Clin Genet, 86(6): 598-600.

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He, Y., Tang, J.S., Li, Z.C., Li, H., Liao, Y.H., Tang, Y.Q., Tan, L.W., Chen, J.D., Xia, K., and Chen, X.G. (2014). Leukocyte Mitochondrial DNA Copy Number in Blood Is Not Associated with Major Depressive Disorder in Young Adults. PLoS One, 9(5): e96869.

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Huang, F., Zhang, L., Long, Z., Chen, Z., Hou, X., Wang, C., Peng, H., Wang, J., Li, J., Duan, R., Xia, K., Chuang, D.M., Tang, B., and Jiang, H. (2014). miR-25 alleviates polyQ-mediated cytotoxicity by silencing ATXN3. FEBS Lett, 588(24): 4791-4798.

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Huang, L., Zhang, F., Tang, Y., Qin, J., Peng, Y., Wu, L., Wang, F., Yuan, Q., Peng, Z., Liu, J., Meng, J., and Tao, L. (2014). Fluorofenidone Attenuates Inflammation by Inhibiting the NF-small ka, CyrillicB Pathway. Am J Med Sci, 348(1): 75-80.

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Huang, W., Luo, S., Ou, J., Zhu, F., Xia, Y., Xue, J., Pan, Q., Wu, L., and Duan, R. (2014). Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation. J Med Genet, 51(3): 159-164.

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Huang, W., Xia, Q.P., Luo, S.Y., He, H., Zhu, T., Du, Q., and Duan, R.H. (2014). Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population. Molecular Genetics & Genomic Medicine, 10.1002/mgg3.128: n/a-n/a.

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Huang, Y., Mei, L., Gui, B., Su, W., Liang, D., Wu, L., and Pan, Q. (2014). A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. Eye (Lond), 28(11): 1364-1369.

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Jiao, B., Tang, B., Liu, X., Yan, X., Zhou, L., Yang, Y., Wang, J., Xia, K., and Shen, L. (2014). Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.Neurobiol Aging, 35(4): 936 e919-922.

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Li, Z., Tang, J., Li, H., Chen, S., He, Y., Liao, Y., Wei, Z., Wan, G., Xiang, X., Xia, K., and Chen, X. (2014). Shorter telomere length in peripheral blood leukocytes is associated with childhood autism. Sci Rep, 4: 7073.

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Liang, D., Peng, Y., Lv, W., Deng, L., Zhang, Y., Li, H., Yang, P., Zhang, J., Song, Z., Xu, G., Cram, D.S., and Wu, L. (2014). Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes. J Mol Diagn, 16(5): 519-526.

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 Liao, X., Luo, Y., Zhan, Z., Du, J., Hu, Z., Wang, J., Guo, J., Yan, X., Pan, Q., Xia, K., Tang, B., and Shen, L. (2014). SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations. Clin Genet, 87(1): 85-89.

24

Lin, Y., He, H., Luo, Y., Zhu, T., and Duan, R. (2014). Inhibition of Transglutaminase Exacerbates Polyglutamine-Induced Neurotoxicity by Increasing the Aggregation of Mutant Ataxin-3 in an SCA3 Drosophila Model.Neurotoxicity Research, 10.1007/s12640-014-9506-8: 1-9.

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Liu, R., Xie, H., Luo, C., Chen, Z., Zhou, X., Xia, K., Chen, X., Zhou, M., Cao, P., Cao, K., and Zhou, J. (2014). Identification of FLOT2 as a novel target for microRNA-34a in melanoma. J Cancer Res Clin Oncol,10.1007/s00432-014-1874-1: [Epub ahead of print].

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Lu, L., Guo, H., Peng, Y., Xun, G., Liu, Y., Xiong, Z., Tian, D., Li, W., Xu, X., Zhao, J., Hu, Z., and Xia, K. (2014). Common and rare variants of the THBS1 gene associated with the risk for autism. Psychiatr Genet, 24(6): 235-240.

27

Luo, J., Xu, Z., Tan, Z., Zhang, Z., and Ma, L. (2014). Neuropeptide Receptors NPR-1 and NPR-2 Regulate Caenorhabditis elegans Avoidance Response to the Plant Stress Hormone Methyl Salicylate. Genetics,10.1534/genetics.114.172239: [Epub ahead of print].

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 Luo, S., Huang, W., Chen, C., Pan, Q., Duan, R., and Wu, L. (2014). A novel deletion to normal size in the sperm of a fragile X full mutation male. Clin Genet, 86(3): 295-297.

29

Luo, S., Huang, W., Xia, Q., Du, Q., Wu, L., and Duan, R. (2014). Mutational Analyses of the FMR1 Gene in Chinese Pediatric Population of Fragile X Suspects: Low Tolerance for Point Mutation. J Child Neurol,10.1177/0883073814538508: [Epub ahead of print].

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 Luo, S., Huang, W., Xia, Q., Xia, Y., Du, Q., Wu, L., and Duan, R. (2014). Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with Fragile X Syndrome: case report. BMC Med Genet, 15(1): 125.

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Luo, Y., Chen, C., Zhan, Z., Wang, Y., Du, J., Hu, Z., Liao, X., Zhao, G., Wang, J., Yan, X., Jiang, H., Pan, Q., Xia, K., Tang, B., and Shen, L. (2014). Mutation and Clinical Characteristics of Autosomal-Dominant Hereditary Spastic Paraplegias in China. Neurodegener Dis, 000365513 [pii]10.1159/000365513: [Epub ahead of print].

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Luo, Y., Jiao, B., Wang, J., Du, J., Yan, X., Xia, K., Tang, B., and Shen, L. (2014). C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients. J Neurol Sci, 347(1-2): 104-106.

33

Lv, W., Wei, X., Guo, R., Liu, Q., Zheng, Y., Chang, J., Bai, T., Li, H., Zhang, J., Song, Z., Cram, D.S., Liang, D., and Wu, L. (2014). Non-invasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART). Clin Chem, 10.1373/clinchem.2014.229328: [Epub ahead of print].

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 Mei, L.B., Huang, Y.R., Pan, Q., Li, H.X., Liang, D.S., and Wu, L.Q. (2014). Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity. J Genet, 10.1007/s12041-014-0419-3: 1-4.

35

 Pan, W., Yu, J., Shi, R., Yan, L., Yang, T., Li, Y., Zhang, Z., Yu, G., Bai, Y., Schuchman, E.H., He, X., and Zhang, G. (2014). Elevation of ceramide and activation of secretory acid sphingomyelinase in patients with acute coronary syndromes. Coron Artery Dis, 25(3): 230-235.

36

Peng, H., Wang, C., Chen, Z., Sun, Z., Jiao, B., Li, K., Huang, F., Hou, X., Wang, J., Shen, L., Xia, K., Tang, B., and Jiang, H. (2014). The APOE epsilon2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population. Neurobiol Aging, 35(9): 2179 e2115-2178.

37

Qiu, F., Qiu, C.Y., Cai, H., Liu, T.T., Qu, Z.W., Yang, Z., Li, J.D., Zhou, Q.Y., and Hu, W.P. (2014). Oxytocin inhibits the activity of acid-sensing ion channels through the vasopressin, V1A receptor in primary sensory neurons. Br J Pharmacol, 171(12): 3065-3076.

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Qu, Z.W., Liu, T.T., Qiu, C.Y., Li, J.D., and Hu, W.P. (2014). Inhibition of acid-sensing ion channels by chlorogenic acid in rat dorsal root ganglion neurons. Neurosci Lett, 567: 35-39.

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Shen, J., Yin, J.Y., Li, X.P., Liu, Z.Q., Wang, Y., Chen, J., Qu, J., Xu, X.J., McLeod, H.L., He, Y.J., Xia, K., Jia, Y.W., and Zhou, H.H. (2014). The prognostic value of altered eIF3a and its association with p27 in non-small cell lung cancers. PLoS One, 9(4): e96008.

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Shi, Q., Ge, Y., Sharoar, M.G., He, W., Xiang, R., Zhang, Z., Hu, X., and Yan, R. (2014). Impact of RTN3 deficiency on expression of BACE1 and amyloid deposition. J Neurosci, 34(42): 13954-13962.

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Shi, Y., Huang, F., Tang, B., Li, J., Wang, J., Shen, L., Xia, K., and Jiang, H. (2014). MicroRNA profiling in the serums of SCA3/MJD patients. Int J Neurosci, 124(2): 97-101.

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Shi, Y., Wang, J., Li, J.D., Ren, H., Guan, W., He, M., Yan, W., Zhou, Y., Hu, Z., Zhang, J., Xiao, J., Su, Z., Dai, M., Jiang, H., Guo, J., Zhang, F., Li, N., Du, J., Xu, Q., Hu, Y., Pan, Q., Shen, L., Wang, G., Xia, K., Zhang, Z., and Tang, B. (2014). Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. PLoS One, 8(12): e81884.

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Song, W.T., Zeng, Q., Xia, X.B., Xia, K., and Pan, Q. (2014). Atoh7 promotes retinal Muller cell differentiation into retinal ganglion cells. Cytotechnology, 10.1007/s10616-014-9777-1: [Epub ahead of print].

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Sun, Z., Xiang, X., Tang, B., Chen, Z., Peng, H., Xia, K., and Jiang, H. (2014). SNP rs11931074 of the SNCA gene may not be associated with multiple system atrophy in Chinese population. Int J Neurosci,10.3109/00207454.2014.990013: 1-11.

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Sun, Z.F., Xiang, X.S., Chen, Z., Zhang, L., Tang, B.S., Xia, K., and Jiang, H. (2014). Increase of the plasma alpha-synuclein levels in patients with multiple system atrophy. Mov Disord, 29(3): 375-379.

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Sun, Z.F., Zhang, Y.H., Guo, J.F., Sun, Q.Y., Mei, J.P., Zhou, H.L., Guan, L.P., Tian, J.Y., Hu, Z.M., Li, J.D., Xia, K., Yan, X.X., and Tang, B.S. (2014). Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. PLoS One, 9(9): e106388.

47

Wang, X., Guo, J., Fei, E., Mu, Y., He, S., Che, X., Tan, J., Xia, K., Zhang, Z., Wang, G., and Tang, B. (2014). BAG5 protects against mitochondrial oxidative damage through regulating PINK1 degradation. PLoS One, 9(1): e86276.

48

Wu, Y., Deng, Y., Zhang, S., Luo, Y., Cai, F., Zhang, Z., Zhou, W., Li, T., and Song, W. (2014). Amyloid-beta precursor protein facilitates the regulator of calcineurin 1-mediated apoptosis by downregulating proteasome subunit alpha type-5 and proteasome subunit beta type-7. Neurobiol Aging, 36(1): 169-177.

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Wu, Y., Gao, T., Wang, X., Hu, Y., Hu, X., Hu, Z., Pang, J., Li, Z., Xue, J., Feng, M., Wu, L., and Liang, D. (2014). TALE nickase mediates high efficient targeted transgene integration at the human multi-copy ribosomal DNA locus.Biochem Biophys Res Commun, 446(1): 261-266.

50

Xiang, R., Fan, L.L., Huang, H., Cao, B.B., Li, X.P., Peng, D.Q., and Xia, K. (2014). A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. Gene, 534(2): 320-323.

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Xiang, X., Wang, T., Tong, P., Li, Y., Guo, H., Wan, A., Xia, L., Liu, Y., Li, Y., Tian, Q., Shen, L., Cai, X., Tian, L., Jin, X., Xia, K., and Hu, Z. (2014). New ZNF644 mutations identified in patients with high myopia. Molecular Vision, 20: 939-946.

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Xie, J., Yang, Y., Li, J., Hou, J., Xia, K., Song, W., and Liu, S. (2014). Expression of tmp21 in normal adult human tissues. Int J Clin Exp Med, 7(9): 2976-2983.

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Xu, L., Wang, L., Yang, X., Li, K., Sun, H., Zhang, D., Wang, H., Li, W., Ni, Z., Xia, K., and Liu, Y. (2014). Platelet function monitoring guided antiplatelet therapy in patients receiving high-risk coronary interventions. Chin Med J (Engl), 127(19): 3364-3370.

54

Xu, X., Xiong, Z., Zhang, L., Liu, Y., Lu, L., Peng, Y., Guo, H., Zhao, J., Xia, K., and Hu, Z. (2014). Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients. Mol Biol Rep, 41(6): 4133-4140.

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Xu, Z., Luo, J., Li, Y., and Ma, L. (2014). The BLI-3/TSP-15/DOXA-1 Dual Oxidase Complex Is Required for Iodide Toxicity in Caenorhabditis elegans. G3 (Bethesda), 10.1534/g3.114.015982: [Epub ahead of print].

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Yan, H.W., Hu, W.X., Zhang, J.Y., Wang, Y., Xia, K., Peng, M.Y., and Liu, J. (2014). Resveratrol induces human K562 cell apoptosis, erythroid differentiation, and autophagy. Tumour Biol, 35(6): 5381-5388.

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Yin, W., Liu, H., Peng, Z., Chen, D., Li, J., and Li, J.D. (2014). Mechanisms that underlie the internalization and extracellular signal regulated kinase 1/2 activation by PKR2 receptor. Cell Signal, 26(5): 1118-1124.

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You, J., Lin, L., Liu, Q., Zhu, T., Xia, K., and Su, T. (2014). The correlation between the expression of differentiated embryo-chondrocyte expressed gene l and oral squamous cell carcinoma. Eur J Med Res, 19: 21.

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Yuan, D., Zhu, Z., Tan, X., Liang, J., Zeng, C., Zhang, J., Chen, J., Ma, L., Dogan, A., Brockmann, G., Goldmann, O., Medina, E., Rice, A.D., Moyer, R.W., Man, X., Yi, K., Li, Y., Lu, Q., Huang, Y., and Huang, S. (2014). Scoring the collective effects of SNPs: association of minor alleles with complex traits in model organisms. Sci China Life Sci, 57(9): 876-888.

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Zhang, L., Ou, J., Xu, X., Peng, Y., Guo, H., Pan, Y., Chen, J., Wang, T., Peng, H., Liu, Q., Tian, D., Pan, Q., Zou, X., Zhao, J., Hu, Z., and Xia, K. (2014). AMPD1 functional variants associated with autism in Han Chinese population.Eur Arch Psychiatry Clin Neurosci, 10.1007/s00406-014-0524-6: [Epub ahead of print].