Li W - Search Results

1

Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.

Fang B, Guo J, Hao C, Guo R, Qian S, Li W, Jia X. Fang B, et al. Among authors: li w. Clin Chim Acta. 2020 Feb;501:131-135. doi: 10.1016/j.cca.2019.10.030. Epub 2019 Oct 31. Clin Chim Acta. 2020. PMID: 31678577

2

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.

Guo J, Li Z, Hao C, Guo R, Hu X, Qian S, Zeng J, Gao H, Li W. Guo J, et al. Among authors: li z, li w. Mol Genet Genomic Med. 2019 Aug;7(8):e828. doi: 10.1002/mgg3.828. Epub 2019 Jul 3. Mol Genet Genomic Med. 2019. PMID: 31268246 Free PMC article.

3

BLOS1 mediates kinesin switch during endosomal recycling of LDL receptor.

Zhang C, Hao C, Shui G, Li W. Zhang C, et al. Among authors: li w. Elife. 2020 Nov 12;9:e58069. doi: 10.7554/eLife.58069. Elife. 2020. PMID: 33179593 Free PMC article.

4

Biological implications of genetic variations in autism spectrum disorders from genomics studies.

Zhang Y, Liu X, Guo R, Xu W, Guo Q, Hao C, Ni X, Li W. Zhang Y, et al. Among authors: li w. Biosci Rep. 2021 Jul 30;41(7):BSR20210593. doi: 10.1042/BSR20210593. Biosci Rep. 2021. PMID: 34240107 Free PMC article. Review.

5

A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P₂ and causes lysosome acidification and hypopigmentation.

Wang Q, Wang Z, Wang Y, Qi Z, Bai D, Wang C, Chen Y, Xu W, Zhu X, Jeon J, Xiong J, Hao C, Zhu MX, Wei A, Li W. Wang Q, et al. Among authors: li w. Nat Commun. 2023 Jan 14;14(1):226. doi: 10.1038/s41467-023-35786-9. Nat Commun. 2023. PMID: 36641477 Free PMC article.

6

NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders.

Liu X, Xu W, Leng F, Zhang P, Guo R, Zhang Y, Hao C, Ni X, Li W. Liu X, et al. Among authors: li w. BMJ Paediatr Open. 2023 Jul;7(1):e001966. doi: 10.1136/bmjpo-2023-001966. BMJ Paediatr Open. 2023. PMID: 37407247 Free PMC article.

7

Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test.

Guo Q, Xia L, Guo R, Xu W, Zhang Y, Zhao C, Zhang P, Bai T, Ni X, Hao C, Xia K, Li W. Guo Q, et al. Among authors: li w. BMJ Paediatr Open. 2023 Jul;7(1):e001930. doi: 10.1136/bmjpo-2023-001930. BMJ Paediatr Open. 2023. PMID: 37407249 Free PMC article.

8

The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.

Li H, Qi Z, Xie L, Hao C, Li W. Li H, et al. Among authors: li w. Mol Genet Genomic Med. 2024 Feb;12(2):e2391. doi: 10.1002/mgg3.2391. Mol Genet Genomic Med. 2024. PMID: 38407511 Free PMC article.

9

DVsc: An Automated Framework for Efficiently Detecting Viral Infection from Single-cell Transcriptomics Data.

Leng F, Mei S, Zhou X, Liu X, Yuan Y, Xu W, Hao C, Guo R, Hao C, Li W, Zhang P. Leng F, et al. Among authors: li w. Genomics Proteomics Bioinformatics. 2024 Jul 3;22(2):qzad007. doi: 10.1093/gpbjnl/qzad007. Genomics Proteomics Bioinformatics. 2024. PMID: 39215426 Free article.

10

Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening.

Hao C, Hu X, Guo R, Qi Z, Jin F, Zhang X, Xie L, Liu H, Liu Y, Ni X, Li W. Hao C, et al. Among authors: li w. Eur J Hum Genet. 2024 Oct 23. doi: 10.1038/s41431-024-01711-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39443691

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