Li J - Search Results

1

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.

Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LJ, Lewis RA, Chen R. Xu M, et al. Among authors: li y, li j. Hum Mutat. 2016 Mar;37(3):246-9. doi: 10.1002/humu.22940. Epub 2016 Jan 6. Hum Mutat. 2016. PMID: 26662040 Free PMC article.

2

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

Li J, Dai H, Feng Y, Tang J, Chen S, Tian X, Gorman E, Schmitt ES, Hansen TA, Wang J, Plon SE, Zhang VW, Wong LJ. Li J, et al. J Mol Diagn. 2015 Sep;17(5):545-53. doi: 10.1016/j.jmoldx.2015.04.001. J Mol Diagn. 2015. PMID: 26320870 Free article.

3

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

Li J, Tang J, Feng Y, Xu M, Chen R, Zou X, Sui R, Chang EY, Lewis RA, Zhang VW, Wang J, Wong LC. Li J, et al. J Mol Diagn. 2016 Nov;18(6):817-824. doi: 10.1016/j.jmoldx.2016.06.007. Epub 2016 Sep 10. J Mol Diagn. 2016. PMID: 27620828 Free article.

4

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

Wang X, Feng Y, Li J, Zhang W, Wang J, Lewis RA, Wong LJ. Wang X, et al. Among authors: li j. PLoS One. 2016 Oct 27;11(10):e0165405. doi: 10.1371/journal.pone.0165405. eCollection 2016. PLoS One. 2016. PMID: 27788217 Free PMC article.

5

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. Feng Y, et al. Among authors: li f, li j. Genet Med. 2017 Aug;19(8):936-944. doi: 10.1038/gim.2016.215. Epub 2017 Jan 26. Genet Med. 2017. PMID: 28125085 Free article.

6

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.

Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL Jr, Bi W. Zhu W, et al. Among authors: li j. Am J Med Genet A. 2018 Apr;176(4):973-979. doi: 10.1002/ajmg.a.38622. Epub 2018 Feb 9. Am J Med Genet A. 2018. PMID: 29423971 Free PMC article.

7

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Zhang J, et al. Among authors: li j. Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Nat Med. 2019. PMID: 30692697

8

Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Zhang J, et al. Among authors: li j. Nat Med. 2019 Apr;25(4):701-702. doi: 10.1038/s41591-019-0391-9. Nat Med. 2019. PMID: 30787481

9

Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients.

Tang J, Tan M, Deng Y, Tang H, Shi H, Li M, Ma W, Li J, Dai H, Li J, Zhou S, Li X, Wei F, Ma X, Luo L. Tang J, et al. Among authors: li j, li x, li m. Front Cell Dev Biol. 2021 Aug 24;9:661599. doi: 10.3389/fcell.2021.661599. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34504838 Free PMC article.

10

Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms.

Wang Y, Qiu X, Chen S, Pan D, Hua R, Li S, Chen Y, Pan N, Cai X, Li J, Zhao X, Wang J, Jing R, Xiang G, Zhang Z, Huang HF, Xu C, Zhang J. Wang Y, et al. Among authors: li s, li j. J Mol Diagn. 2023 Sep;25(9):682-691. doi: 10.1016/j.jmoldx.2023.06.003. J Mol Diagn. 2023. PMID: 37599029 Free article.

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