2004年至今，主持國(guó)家“973”、“863”、支撐計(jì)劃、科技基礎(chǔ)性工作專項(xiàng)等計(jì)劃課題和國(guó)家自然科學(xué)基金項(xiàng)目10項(xiàng)，主持或參加國(guó)際、國(guó)家和省部級(jí)重大科研計(jì)劃課題9項(xiàng)；獲國(guó)家科學(xué)技術(shù)進(jìn)步獎(jiǎng)二等獎(jiǎng)1項(xiàng)，省部級(jí)科學(xué)技術(shù)進(jìn)步獎(jiǎng)4項(xiàng)；在Am J Med Genet, Nat Genet, PLoS One等雜志發(fā)表論文100余篇，其中SCI收錄論文30余篇。

1月9日，第三屆中國(guó)出生缺陷干預(yù)救助基金會(huì)科學(xué)技術(shù)獎(jiǎng)?lì)C獎(jiǎng)典禮在京舉行。梁德生教授榮獲“杰出貢獻(xiàn)獎(jiǎng)”。梁德生教授在創(chuàng)建遺傳病診斷與產(chǎn)前診斷新技術(shù)體系和基因編輯治療研究方面作出了突出貢獻(xiàn)。2013年以來(lái)，研發(fā)“基于二代測(cè)序的CNV檢測(cè)技術(shù)（CNV-Seq）”、“單基因病無(wú)創(chuàng)產(chǎn)前診斷技術(shù)（cSMART）”和“擴(kuò)展至108種染色體異常的無(wú)創(chuàng)產(chǎn)前檢測(cè)技術(shù)（NIPT-Plus）”，并在全國(guó)推廣應(yīng)用，主要指標(biāo)居國(guó)際領(lǐng)先水平。cSMART技術(shù)被美國(guó)臨床化學(xué)學(xué)會(huì)譽(yù)為“分子診斷的革命性突破”，使嚴(yán)重遺傳病產(chǎn)前篩查和診斷覆蓋率從40%左右提高到80%以上。同時(shí)，自體干細(xì)胞基因編輯治療研究也取得重要成果，其中“重型血友病A病人誘導(dǎo)多能干細(xì)胞基因原位修復(fù)治療研究”獲得法國(guó)國(guó)家血漿制品集團(tuán)資助轉(zhuǎn)化，代表我國(guó)遺傳病基因治療研究跟上國(guó)際前沿。

主要論文

Peer review publications (since 2004):

1. Li Z, Liu J, Li H, Peng Y,Lv W, Long Z,Liang D, Wu L. Phenotypic expansion of the interstitial16p13.3 duplication: A case report and review of the literature.Gene.2013 Sep 12. [Epub ahead of print] (Correspondence)

2. Wu L, Liu J, Lv W, Wen J, XiaY,Liang D. An Xp21.3p11.4 duplication observed in a boy withintellectual deficiency and speech delay and his asymptomatic mother.Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):467-70. (Correspondence)

3. Hu Y, Liu X, Long P, Xiao D,Cun J, Li Z, Xue J, Wu Y, Luo S, Wu L,Liang D. Nonviral gene targetingat rDNA locus of human mesenchymal stem cells.Biomed Res Int.2013;2013:135189. Epub 2013 May 14. (Correspondence)

4.Liang D, Lv W, Wang H, Xu L, Liu J, Li H, Hu L,Peng Y, Wu L. Non-invasive prenatal testing of fetal whole chromosomeaneuploidy by massively parallel sequencing.Prenat Diagn.2012 Jan 9.[Epub ahead of print]

5. Liu X,Wu Y, Li Z, Yang J, Xue J, Hu Y, Feng M, Niu W, Yang Q, Lei M, Xia J, Wu L,Liang D. Targeting of the HumanCoagulation Factor IX Gene at rDNA Locus of Human Embryonic Stem Cells.PLoS One. 2012;7(5):e37071. (Correspondence)

6.Liang D, Zhou Z, Meng D, Du J, Wen J, Niikawa N,Wu L. Three Patients with Wolf-Hirschhorn Syndrome Carrying a SatellitedChromosome 4p.Birth Defects Res A Clin Mol Teratol.2012 Jul; 94(7):549-52.

7. Xue J, Peng J, Zhou M, Zhong L, Yin F,Liang D, Wu L. Novel compound heterozygous mutation of MLYCD in a Chinese patient withmalonic aciduria.Mol Genet Metabo2012Jan;105(1):79-83.

8. Hu Y,Liu X, Xiao D, Gao T, Feng M, Li Z, Xue J, Pan Q, Wu L,Liang D. Improved gene targeting at the human rDNA locus stimulatedby Zinc finger nucleases.Mol Ther(2011) 19(S1):S267. (Correspondence)

9. PengJ, Wu L, Liu X,Liang D.Nonviral-mediated Endostatin Delivery Results in Inhibition of FibrosarcomaGrowth.Mol Ther(2011) 19(S1):S267-268. (Correspondence)

10. HannibalMC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI,Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N,Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, HouJW, Ohta T,Liang D, Sudo A, MorrisCA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH,Donnai D, Niikawa N, Shendure J, Bamshad MJ. Spectrum of MLL2 (ALR) mutationsin 110 cases of Kabuki syndrome.Am J Med Genet A. 2011Jul;155(7):1511-6.

11. Wu L, Liao X, Wang H, Zhou Z, Lv W,Liang D. A Patient with Apparently Reciprocal Translocation andCryptic 10p Deletion.Am J Med Genet A(2011) 155(7):1753-5. (Correspondence)

12. Hu J,Liang D, Xue J, Liu J, Wu L. Anovel GPR143 splicing mutation in a Chinese family with X-linked congenitalnystagmus.Mol Vis(2011) 17:715-22. (Co-author).

13. Wu L,Meng D, Zhou Z, Du J, Long Z,Liang D.A Family with Partial Duplication/Deletion 4p Due to a Balanced t (4; 15)(p16.2; p11.2) Translocation.Am J Med Genet A(2011) 155A(3):656-9. (Correspondence)

14. Liao X,Liang D, Li Y, Xi H, Quan Y,Wu L. Mutation analysis of the SRY, NR5A1 and DHH genes in six Chinese 46,XYwomen.J Matern Fetal Neonatal Med(2011) 24(6):863-6. (Co-author).

15. ShenJD,Liang DS, Zhou ZM, Xia Y, LongZG, Wu LQ. Pallister-Killian Syndrome: meiosis II non-disjunction may be thefirst step in the formation of isochromosome 12p.Chin Med J(Engl). 2010December 5; 123(23):3482-3485. (Co-author)

16. GrossmannV, H?ckner M, Karmous-Benailly H,LiangD, Puttinger R, Quadrelli R, R?thlisberger B, Huber A, Wu L, Spreiz A,Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Parental Origin ofApparently Balanced De Novo Complex Chromosomal Rearrangements Investigated byMicrodissection, Whole Genome Amplification, and Microsatellite MediatedHaplotype Analysis.Clin Genet2010 Dec; 78(6): 548-553.

17. YangJ, Liu X, Yu J, Sheng L, Shi Y, Li Z, Hu Y, Xue J, Wu L, Liang Y, Xia J, andLiang D*. A non-viral vector forpotential DMD gene therapy study by targeting a minidystrophin-GFP fusion geneinto the hrDNA locus.Acta Biochim Biophys Sin2009, 41(12):1053u20131060. (Correspondence)

18. XueJF, Liu XH, He Q, Xue ZG, Hu YJ, Li Z, Yang JL, Gao T, Pan Q, Long ZG, Wu LQ, XiaK,Liang DS, Xia JH. In vitroEfficacy of mda-7 Gene for Hepatocellular Carcinoma Gene Therapy Mediated byHuman Ribosomal DNA Targeting Vector*.Prog Biochem Biophys2009, 36(11):1429~1435. (Correspondence)

19. Shi Y,Liu XH,Liang DS,Feng M, Wu LQ, YangJL, Li Z, Zhao K, Pan Q, Long ZG, Xia JH. The Transfection EfficiencyImprovement of hrDNA Targeting Vectors with NLS Peptide.Prog Biochem Biophys2009; 36(10): 1283-1290. (Correspondence)

20. Wu L,Liang D, Niikawa N, Ma F, Sun M, Pan Q,Long Z, Zhou Z, Yoshiura KI, Wang H, Sato D, Nishimura G, Dai H, Zhang X, XiaJ. A ZRS duplication causes syndactyly type IV with tibial hypoplasia.Am JMed Genet A. 2009 Mar 16;149A(4):816-818. (Co-author)

21. Wu L, Long Z,LiangD, Harada N, Pan Q, Yoshiura KI, Xia K, Dai H, Niikawa N, Xia J. Pre- andpostnatal overgrowth in a patient with proximal 4p deletion.Am JMed Genet A. 2008 Mar 15; 146A(6):791-4. (Correspondence)

22. Wen L,Liang de S,Wu LQ, Cai F, Pan Q, Long ZG, Dai HP, Xia K, Xia JH.Efficient proteinexpression from the endogenous RNA polymerase I promoter using a humanribosomal DNA targeting vector.Biochem Biophys Res Commun. 2008 Mar21; 367(4):846-51.

23. Xue ZG, Li J, Yin B, Zhang YK, Liu XH, Pan Q, Long ZG,Dai HP, Xia K, Wu LQ,Liang DS, XiaJH. p53 Anti-tumor Research inBel-7402 by Using Human-derived Vector.Prog Biochem Biophys2007; 34(5):465-470. (Correspondence)

24. Sato D,Liang D,Wu L, Pan Q, Xia K, Dai H, Wang H, Nishimura G, Yoshiura K, Xia J, Niikawa N.(2007) A syndactyly type IV locus maps to 7q36.J Hum Genet. 52(6):561-4. (Co-author)

25. Hu H，Wu L，F(xiàn)eng Y，Pan Q，Long Z，Li J，Dai H，Xia K，Liang D，Niikawa N，Xia J. (2007)Molecular analysis of hearing loss associated with enlarged vestibular aqueductin the mainland Chinese:a unique SLC26A4 mutation spectrum.J Hum Genet. 52(6):492-7. (Correspondence)

26. Liu X, Liu M, Xue Z, PanQ, Wu L, Long Z, Xia K,Liang D, XiaJ. Non-viral ex vivo transduction of human hepatocyte cells to express factorVIII using a human ribosomal DNA-targeting vector. J Thromb Hoemost. 2007 Feb; 5(2):347-51. (Correspondence)

27. WANG L*, XUE Z*, LI Z, XUE J, LIU X, PAN Q, LONG Z, CAIF, WU L, DAI H, XIA K,LIANG D&XIA J. (2006) Investigation of hrDNA targeting vector-mediated tumor-specificsuicide gene therapy for hepatocellular carcinoma,Chinese Sci Bull,51(19):2342-2350. (Correspondence)

28. Yoshiura K, Kinoshita A, Ishida T, Ninokata A, IshikawaT, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA,Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N,Mapendano CK, Ghadami M, Nomura M,LiangDS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A,Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, MurrayJC, Saito S, Nakamura Y, Niikawa N. A SNP in the ABCC11 gene is the determinantof human earwax type.Nat Genet. 2006 Mar; 38(3):324-30.

29.Liang D, Wu L, Pan Q, HaradaN, Long Z, Xia K, Yoshiura K, Dai H, Niikawa N, Cai F, Xia J. A father and sonwith mental retardation, a characteristic face, inv(12), and insertion trisomy12p12.3-p11.2.Am J Med Genet A. 2006 Feb 1;140(3):238-44.

30. Zhang R, Zhu Z, Zhu H, Nguyen T, Yao F, Xia K,Liang Dand Liu C. SNP Cutter: acomprehensive tool for SNP PCRu2013RFLP assay design,Nucleic Acids Res, 2005, Vol.33,Web Server issue W489u2013W492.

31. Lyu QF, Wu LQ, Li YP, Pan Q, Liu DE, Xia K,Liang DS, Cai F, Long ZG,Dai HP, XiaJH. An improved mechanical technique for assisted hatching.HumReprod, 2005 Apr 28; 20(6):1619-1623.

32. XUE Z,LIANG D, LONG Z, PAN Q, LIU X,WU L, CAI F, DAI H, XIA K & XIA J. Silica nanoparticle is a possible safecarrier for gene therapy.Chinese Sci Bull,2005, 50(20): 2323-2327. (Co-author)

33. Xia K, Wu L, Liu X, Xi X,Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, ZhangZ, Xia J. (2004) Mutation in PITX2 is Associated with Ring Dermoid of theCornea.J Med Genet41(12):e129.

34. Xia K,Liang D,Tang A, Feng Y, Zhang J, Pan Q, Long Z, Dai H, Cai F, Wu L, Zhao S, Chen Z, XiaJ. (2004) A Novel Fusion Suicide Gene Yeast CDglyTK plays a Role inRadio-genetherapy of Nasopharyngeal Carcinoma.Cancer Gene Ther,11(12):790-6.

著作

1. 《醫(yī)學(xué)遺傳學(xué)》，第6、12章，全國(guó)醫(yī)藥衛(wèi)生高等院校研究生規(guī)劃教材，2004年，人民衛(wèi)生出版社

2. 《實(shí)用產(chǎn)前診斷學(xué)》，參編，全國(guó)產(chǎn)前診斷培訓(xùn)教材，2008年，人民軍醫(yī)出版社

3. 《精編人類遺傳學(xué)實(shí)驗(yàn)指南》，參編，2009年，科學(xué)出版社