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Items: 1 to 20 of 101

1.

Molecular investigation in Chinese patients with primary carnitine deficiency.

Zhang Y, Li H, Liu J, Yan H, Liu Q, Wei X, Xi H, Jia Z, Wu L, Wang H.

Mol Genet Genomic Med. 2019 Jul 30:e901. doi: 10.1002/mgg3.901. [Epub ahead of print]

2.

Noninvasive fetal genotyping in pregnancies at risk for PKU using a comprehensive quantitative cSMART assay for PAH gene mutations: a clinical feasibility study.

Lv W, Li Z, Wei X, Zhu H, Teng Y, Zhou M, Gong Y, Cram DS, Liang D, Han L, Wu L.

BJOG. 2019 Jul 11. doi: 10.1111/1471-0528.15869. [Epub ahead of print]

PMID:
31295388
3.

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]

4.

Molecular genetic study of 59 Chinese Oculocutaneous albinism families.

Luo D, Linpeng S, Zeng L, Tan H, Li Z, Wu L.

Eur J Med Genet. 2019 Jun 20:103709. doi: 10.1016/j.ejmg.2019.103709. [Epub ahead of print]

PMID:
31229681
5.

Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.

Yang C, Linpeng S, Cao Y, Wu L.

Gene. 2019 Aug 20;710:9-16. doi: 10.1016/j.gene.2019.04.086. Epub 2019 May 18.

PMID:
31112740
6.

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.

7.

Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.

Huang C, Long X, Peng C, Lin P, Tan H, Lv W, Wu L.

Mol Med Rep. 2019 Jun;19(6):4711-4718. doi: 10.3892/mmr.2019.10153. Epub 2019 Apr 11.

8.

[Genetic diagnosis and non-invasive prenatal testing of a fetus with Prader-Willi/Angelman syndrome].

Gao M, Pang H, Shi Y, Feng X, Zhao Y, Hua J, Tong D, Liu J, Wen J, Fan T, Wu L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):543-546. doi: 10.3760/cma.j.issn.1003-9406.2019.06.003. Chinese.

PMID:
31055801
9.

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.

PMID:
30988409
10.

[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.

PMID:
30950021
11.

Varifocal-Net: A Chromosome Classification Approach Using Deep Convolutional Networks.

Qin Y, Wen J, Zheng H, Huang X, Yang J, Wu L, Song N, Zhu YM, Yang GZ.

IEEE Trans Med Imaging. 2019 Mar 19. doi: 10.1109/TMI.2019.2905841. [Epub ahead of print]

PMID:
30908259
12.

[Genetic diagnosis and noninvasive prenatal testing of a family with Williams-Beuren syndrome].

Zhao Y, Pang H, Feng X, Xiang Y, Gao M, Hua J, Tong D, Wu L, Sun H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):263-266. doi: 10.3760/cma.j.issn.1003-9406.2019.03.018. Chinese.

PMID:
30835361
13.

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]

PMID:
30828085
14.

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.

Tang H, Guo J, Linpeng S, Wu L.

Orphanet J Rare Dis. 2019 Feb 15;14(1):45. doi: 10.1186/s13023-019-1022-8.

15.

Constructing a database for the relations between CNV and human genetic diseases via systematic text mining.

Yang X, Song Z, Wu C, Wang W, Li G, Zhang W, Wu L, Lu K.

BMC Bioinformatics. 2018 Dec 31;19(Suppl 19):528. doi: 10.1186/s12859-018-2526-2.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

PMID:
30096315

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