Kao HJ - Search Results

1

Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing.

Tsai HH, Kao HJ, Kuo MW, Lin CH, Chang CM, Chen YY, Chen HH, Kwok PY, Yu AL, Yu J. Tsai HH, et al. Among authors: kao hj. Nat Commun. 2023 Aug 25;14(1):5183. doi: 10.1038/s41467-023-40901-x. Nat Commun. 2023. PMID: 37626063 Free PMC article.

2

De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.

Kao HJ, Chiang HL, Chen HH, Fan PC, Tu YF, Chou YY, Hwu WL, Lin CL, Kwok PY, Lee NC. Kao HJ, et al. Hum Mutat. 2020 Oct;41(10):1775-1782. doi: 10.1002/humu.24080. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652807

3

Towards a reference genome that captures global genetic diversity.

Wong KHY, Ma W, Wei CY, Yeh EC, Lin WJ, Wang EHF, Su JP, Hsieh FJ, Kao HJ, Chen HH, Chow SK, Young E, Chu C, Poon A, Yang CF, Lin DS, Hu YF, Wu JY, Lee NC, Hwu WL, Boffelli D, Martin D, Xiao M, Kwok PY. Wong KHY, et al. Among authors: kao hj. Nat Commun. 2020 Oct 30;11(1):5482. doi: 10.1038/s41467-020-19311-w. Nat Commun. 2020. PMID: 33127893 Free PMC article.

4

Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.

Wei CY, Yang JH, Yeh EC, Tsai MF, Kao HJ, Lo CZ, Chang LP, Lin WJ, Hsieh FJ, Belsare S, Bhaskar A, Su MW, Lee TC, Lin YL, Liu FT, Shen CY, Li LH, Chen CH, Wall JD, Wu JY, Kwok PY. Wei CY, et al. Among authors: kao hj. NPJ Genom Med. 2021 Feb 11;6(1):10. doi: 10.1038/s41525-021-00178-9. NPJ Genom Med. 2021. PMID: 33574314 Free PMC article.

5

Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.

Hsueh HW, Kao HJ, Chao CC, Hsueh SJ, Huang YN, Lin WJ, Su JP, Shy HT, Yeh TY, Lin CC, Kwok PY, Lee NC, Hsieh ST. Hsueh HW, et al. Among authors: kao hj. Neurol Genet. 2023 Jun 16;9(4):e200078. doi: 10.1212/NXG.0000000000200078. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37346931 Free PMC article.

6

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ, Lin TY, Hsieh FJ, Chien JY, Yeh EC, Lin WJ, Chen YH, Ding KH, Yang Y, Chi SC, Tsai PH, Hsu CC, Hwang DK, Tsai HY, Peng ML, Lee SH, Chau SF, Chen CY, Cheang WM, Chen SJ, Kwok PY, Chiou SH, Lu MJ, Huang SP. Kao HJ, et al. NPJ Genom Med. 2024 Jan 9;9(1):4. doi: 10.1038/s41525-023-00388-3. NPJ Genom Med. 2024. PMID: 38195571 Free PMC article.

7

Cell-based screen identifies porphyrins as FGFR3 activity inhibitors with therapeutic potential for achondroplasia and cancer.

Lin YW, Kao HJ, Chen WT, Kao CF, Wu JY, Chen YT, Lee YC. Lin YW, et al. Among authors: kao hj. JCI Insight. 2023 Nov 22;8(22):e171257. doi: 10.1172/jci.insight.171257. JCI Insight. 2023. PMID: 37824212 Free PMC article.

8

Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice.

Sabbagha NG, Kao HJ, Yang CF, Huang CC, Lin WD, Tsai FJ, Chen TH, Tarn WY, Wu JY, Chen YT. Sabbagha NG, et al. Among authors: kao hj. Pediatr Res. 2011 Jul;70(1):31-6. doi: 10.1203/PDR.0b013e31821b89ee. Pediatr Res. 2011. PMID: 21659959

9

Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.

Saleem AN, Chen YH, Baek HJ, Hsiao YW, Huang HW, Kao HJ, Liu KM, Shen LF, Song IW, Tu CP, Wu JY, Kikuchi T, Justice MJ, Yen JJ, Chen YT. Saleem AN, et al. Among authors: kao hj. PLoS Genet. 2010 Jun 10;6(6):e1000985. doi: 10.1371/journal.pgen.1000985. PLoS Genet. 2010. PMID: 20548961 Free PMC article.

10

ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.

Kao HJ, Cheng CF, Chen YH, Hung SI, Huang CC, Millington D, Kikuchi T, Wu JY, Chen YT. Kao HJ, et al. Hum Mol Genet. 2006 Dec 15;15(24):3569-77. doi: 10.1093/hmg/ddl433. Epub 2006 Nov 20. Hum Mol Genet. 2006. PMID: 17116638

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