Tsai MC - Search Results

1

Comorbidities associated with genetic abnormalities in children with intellectual disability.

Chen JS, Yu WH, Tsai MC, Hung PL, Tu YF. Chen JS, et al. Among authors: tsai mc. Sci Rep. 2021 Mar 22;11(1):6563. doi: 10.1038/s41598-021-86131-3. Sci Rep. 2021. PMID: 33753861 Free PMC article.

2

Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan.

Pan YW, Tsai MC, Yang CY, Yu WH, Wang B, Yang YJ, Chou YY. Pan YW, et al. Among authors: tsai mc. Mol Genet Metab Rep. 2023 Jan 31;34:100957. doi: 10.1016/j.ymgmr.2023.100957. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36873248 Free PMC article.

3

A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D.

Chang YM, Pan YW, Chou YY, Yu WH, Tsai MC. Chang YM, et al. Among authors: tsai mc. Brain Dev. 2023 Nov;45(10):603-607. doi: 10.1016/j.braindev.2023.08.001. Epub 2023 Aug 18. Brain Dev. 2023. PMID: 37599126

4

New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies.

Tsai MC, Chou YY, Li CY, Wang YC, Yu HW, Chen CH, Chen PC. Tsai MC, et al. Front Genet. 2021 Jul 28;12:594285. doi: 10.3389/fgene.2021.594285. eCollection 2021. Front Genet. 2021. PMID: 34394176 Free PMC article.

5

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.

Tsai MC, Weng YH, Lin YF, Wang YC, Yu HW, Chou YY, Chen PC. Tsai MC, et al. Biomedicines. 2023 Jan 17;11(2):242. doi: 10.3390/biomedicines11020242. Biomedicines. 2023. PMID: 36830778 Free PMC article.

6

Cost-effectiveness analysis of carrier and prenatal genetic testing for X-linked hemophilia.

Tsai MC, Cheng CN, Wang RJ, Chen KT, Kuo MC, Lin SJ. Tsai MC, et al. J Formos Med Assoc. 2015 Aug;114(8):722-8. doi: 10.1016/j.jfma.2013.06.017. Epub 2013 Aug 9. J Formos Med Assoc. 2015. PMID: 23932837 Free article.

7

Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant.

Lee YR, Lin YC, Chang YH, Huang HY, Hong YK, Aala WJF, Tu WT, Tsai MC, Chou YY, Hsu CK. Lee YR, et al. Among authors: tsai mc. Front Genet. 2022 Apr 8;13:848879. doi: 10.3389/fgene.2022.848879. eCollection 2022. Front Genet. 2022. PMID: 35464843 Free PMC article.

8

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.

Lin HY, Lee CL, Tu YR, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Tsai MC, Chao MC, Tsai LP, Yang CF, Su PH, Pan YW, Lee CH, Chu TH, Chuang CK, Lin SP. Lin HY, et al. Among authors: tsai mc, tsai lp. Int J Med Sci. 2024 Jan 1;21(1):8-18. doi: 10.7150/ijms.84154. eCollection 2024. Int J Med Sci. 2024. PMID: 38164354 Free PMC article.

9

Syndromic ciliopathy: a taiwanese single-center study.

Pan YW, Ou TY, Chou YY, Kuo PL, Hsiao HP, Chiu PC, Lin JL, Lo FS, Wang CH, Chen PC, Tsai MC. Pan YW, et al. Among authors: tsai mc. BMC Med Genomics. 2024 Apr 26;17(1):106. doi: 10.1186/s12920-024-01880-0. BMC Med Genomics. 2024. PMID: 38671463 Free PMC article.

10

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.

Tsai CC, Chang YM, Chou YY, Chen SY, Pan YW, Tsai MC. Tsai CC, et al. Among authors: tsai mc. Kaohsiung J Med Sci. 2024 Aug;40(8):744-756. doi: 10.1002/kjm2.12871. Epub 2024 Jun 25. Kaohsiung J Med Sci. 2024. PMID: 38923290 Free article.

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