Jang JH - Search Results

1

Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies.

Yang M, Kim JA, Jo HS, Park JH, Ahn SY, Sung SI, Park WS, Cho HW, Kim JM, Park MH, Park HY, Jang JH, Chang YS. Yang M, et al. Among authors: jang jh. J Korean Med Sci. 2024 Sep 23;39(36):e250. doi: 10.3346/jkms.2024.39.e250. J Korean Med Sci. 2024. PMID: 39315442 Free PMC article.

2

A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.

Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK. Yang M, et al. Ann Pediatr Endocrinol Metab. 2018 Dec;23(4):229-234. doi: 10.6065/apem.2018.23.4.229. Epub 2018 Dec 31. Ann Pediatr Endocrinol Metab. 2018. PMID: 30599486 Free PMC article.

3

Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of EGFR Mutations.

So MK, Park JH, Kim JW, Jang JH. So MK, et al. Among authors: jang jh. Diagnostics (Basel). 2021 Jun 2;11(6):1022. doi: 10.3390/diagnostics11061022. Diagnostics (Basel). 2021. PMID: 34199654 Free PMC article.

4

An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical Implications.

Kim JA, Jang JH, Lee SY. Kim JA, et al. Among authors: jang jh. Nutrients. 2021 Sep 10;13(9):3162. doi: 10.3390/nu13093162. Nutrients. 2021. PMID: 34579037 Free PMC article. Review.

5

Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1.

Kwon WK, Kim JA, Park JH, Kim DR, Park SE, Kim YJ, Yoo KH, Jang JH, Kang ES. Kwon WK, et al. Among authors: jang jh. Front Pediatr. 2022 Mar 23;10:812590. doi: 10.3389/fped.2022.812590. eCollection 2022. Front Pediatr. 2022. PMID: 35402355 Free PMC article.

6

Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability.

Lee J, Shamim A, Park J, Jang JH, Kim JH, Kwon JY, Kim JW, Kim KK, Lee J. Lee J, et al. Among authors: jang jh. Front Neurol. 2022 Apr 18;13:836954. doi: 10.3389/fneur.2022.836954. eCollection 2022. Front Neurol. 2022. PMID: 35509994 Free PMC article.

7

Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.

Kim JA, Kwon WK, Kim JW, Jang JH. Kim JA, et al. Among authors: jang jh. J Hum Genet. 2022 Oct;67(10):601-606. doi: 10.1038/s10038-022-01044-x. Epub 2022 May 24. J Hum Genet. 2022. PMID: 35606502 Review.

8

A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequences.

Kim SM, Noh ES, Park JH, Park HD, Lee SY, Jang JH, Cho SY. Kim SM, et al. Among authors: jang jh. Ann Hum Genet. 2022 Nov;86(6):361-368. doi: 10.1111/ahg.12483. Epub 2022 Aug 24. Ann Hum Genet. 2022. PMID: 36000290

9

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.

Kim DH, Yang M, Jo HS, Park J, Jang J, Shin S, Son S. Kim DH, et al. Children (Basel). 2022 Dec 30;10(1):76. doi: 10.3390/children10010076. Children (Basel). 2022. PMID: 36670626 Free PMC article.

10

Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.

Kim YG, Ha C, Shin S, Park JH, Jang JH, Kim JW. Kim YG, et al. Among authors: jang jh. Front Genet. 2023 Jan 4;13:1087359. doi: 10.3389/fgene.2022.1087359. eCollection 2022. Front Genet. 2023. PMID: 36685919 Free PMC article.

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