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Items: 1 to 20 of 94


ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs.

Hu Z, Zhou M, Wu Y, Li Z, Liu X, Wu L, Liang D.

Mol Ther Nucleic Acids. 2019 Jun 5;17:198-209. doi: 10.1016/j.omtn.2019.05.019. [Epub ahead of print]


Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series.

Long X, Li Z, Huang Y, Zhang L, Lv W, Teng Y, Linpeng S, Liang D, Wu L.

Medicine (Baltimore). 2019 May;98(20):e15692. doi: 10.1097/MD.0000000000015692.


Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.

Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N.

J Hum Genet. 2019 Jul;64(7):647-652. doi: 10.1038/s10038-019-0596-2. Epub 2019 Apr 15.


[Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome].

Jiang C, Pan N, Lyu W, Peng Y, Liu J, Guo R, Chang J, Liang D, Wu L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):340-343. doi: 10.3760/cma.j.issn.1003-9406.2019.04.012. Chinese.


Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.

Liang D, Cram DS, Tan H, Linpeng S, Liu Y, Sun H, Zhang Y, Tian F, Zhu H, Xu M, Wang H, Yu F, Wu L.

Genet Med. 2019 Mar 4. doi: 10.1038/s41436-019-0467-4. [Epub ahead of print]


Improved gastrointestinal stability of solid lipid nanoparticles using comb-shaped amphiphilic inulin derivatives.

Peng T, Guo F, Liang D, Gao Y, Zhang X, Qiu S, Liu J, Zhong H.

Pharmazie. 2019 Jan 1;74(1):47-53. doi: 10.1691/ph.2019.8140.


Enhanced oral absorption of insulin using colon-specific nanoparticles co-modified with amphiphilic chitosan derivatives and cell-penetrating peptides.

Guo F, Ouyang T, Peng T, Zhang X, Xie B, Yang X, Liang D, Zhong H.

Biomater Sci. 2019 Mar 26;7(4):1493-1506. doi: 10.1039/c8bm01485j.


Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.

Linpeng S, Liu J, Pan J, Cao Y, Teng Y, Liang D, Li Z, Wu L.

Biomed Res Int. 2018 Nov 15;2018:4032543. doi: 10.1155/2018/4032543. eCollection 2018.


Paired CRISPR/Cas9 Nickases Mediate Efficient Site-Specific Integration of F9 into rDNA Locus of Mouse ESCs.

Wang Y, Zhao J, Duan N, Liu W, Zhang Y, Zhou M, Hu Z, Feng M, Liu X, Wu L, Li Z, Liang D.

Int J Mol Sci. 2018 Oct 5;19(10). pii: E3035. doi: 10.3390/ijms19103035.


De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Fan Y, Yin W, Hu B, Kline AD, Zhang VW, Liang D, Sun Y, Wang L, Tang S, Powis Z, Li L, Yan H, Shi Z, Yang X, Chen Y, Wang J, Jiang Y, Tan H, Gu X, Wu L, Yu Y.

Am J Hum Genet. 2018 Sep 6;103(3):448-455. doi: 10.1016/j.ajhg.2018.07.019. Epub 2018 Aug 16.


Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.

Cao Y, Tan H, Li Z, Linpeng S, Long X, Liang D, Wu L.

Int Heart J. 2018 Sep 26;59(5):1059-1068. doi: 10.1536/ihj.18-046. Epub 2018 Aug 11.


Ectopic expression of factor VIII in MSCs and hepatocytes derived from rDNA targeted hESCs.

Sun Q, Liu X, Wu Y, Niu W, Long P, Liu J, Lei M, Hu Y, Wu L, Li Z, Liang D.

Clin Chim Acta. 2019 Aug;495:656-663. doi: 10.1016/j.cca.2018.08.007. Epub 2018 Aug 7.


XRCC2 mutation causes meiotic arrest, azoospermia and infertility.

Yang Y, Guo J, Dai L, Zhu Y, Hu H, Tan L, Chen W, Liang D, He J, Tu M, Wang K, Wu L.

J Med Genet. 2018 Sep;55(9):628-636. doi: 10.1136/jmedgenet-2017-105145. Epub 2018 Jul 24.


Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.

Zhang R, Linpeng S, Li Z, Cao Y, Tan H, Liang D, Wu L.

Gene. 2018 Aug 30;669:42-46. doi: 10.1016/j.gene.2018.05.050. Epub 2018 May 17.


Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.

Tan H, Chen X, Lv W, Linpeng S, Liang D, Wu L.

J Hum Genet. 2018 Jul;63(7):851-855. doi: 10.1038/s10038-018-0461-8. Epub 2018 Apr 27.


Generation of reporter hESCs by targeting EGFP at the CD144 locus to facilitate the endothelial differentiation.

Hu Z, Wu Y, Zhou M, Wang X, Pang J, Li Z, Feng M, Wang Y, Hu Q, Zhao J, Liu X, Wu L, Liang D.

Dev Growth Differ. 2018 May;60(4):205-215. doi: 10.1111/dgd.12433. Epub 2018 Apr 25.


Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.

Long X, Huang Y, Tan H, Li Z, Zhang R, Linpeng S, Lv W, Cao Y, Li H, Liang D, Wu L.

Eye (Lond). 2018 Aug;32(8):1359-1364. doi: 10.1038/s41433-018-0084-5. Epub 2018 Apr 26.


Seamless Genetic Conversion of SMN2 to SMN1 via CRISPR/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced Pluripotent Stem Cells.

Zhou M, Hu Z, Qiu L, Zhou T, Feng M, Hu Q, Zeng B, Li Z, Sun Q, Wu Y, Liu X, Wu L, Liang D.

Hum Gene Ther. 2018 Nov;29(11):1252-1263. doi: 10.1089/hum.2017.255. Epub 2018 May 9.


Gene Therapy for Hemophilia and Duchenne Muscular Dystrophy in China.

Liu X, Liu M, Wu L, Liang D.

Hum Gene Ther. 2018 Feb;29(2):146-150. doi: 10.1089/hum.2017.213. Review.


Restoration of SMN expression in mesenchymal stem cells derived from gene-targeted patient-specific iPSCs.

Feng M, Liu C, Xia Y, Liu B, Zhou M, Li Z, Sun Q, Hu Z, Wang Y, Wu L, Liu X, Liang D.

J Mol Histol. 2018 Feb;49(1):27-37. doi: 10.1007/s10735-017-9744-1. Epub 2017 Dec 5.


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