Jang MA - Search Results

1

Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.

Kim YE, Ki CS, Jang MA. Kim YE, et al. Among authors: jang ma. Ann Lab Med. 2019 Nov;39(6):606. doi: 10.3343/alm.2019.39.6.606. Ann Lab Med. 2019. PMID: 31240896 Free PMC article.

2

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

Jang MA, Lee CW, Kim JK, Ki CS. Jang MA, et al. Ann Lab Med. 2015 Nov;35(6):639-42. doi: 10.3343/alm.2015.35.6.639. Ann Lab Med. 2015. PMID: 26354354 Free PMC article.

3

A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Ma Y, Jang MA, Yoo HS, Ahn SY, Sung SI, Chang YS, Ki CS, Park WS. Ma Y, et al. Among authors: jang ma. Yonsei Med J. 2017 May;58(3):672-675. doi: 10.3349/ymj.2017.58.3.672. Yonsei Med J. 2017. PMID: 28332379 Free PMC article.

4

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.

Kim YE, Ki CS, Jang MA. Kim YE, et al. Among authors: jang ma. Ann Lab Med. 2019 Sep;39(5):421-429. doi: 10.3343/alm.2019.39.5.421. Ann Lab Med. 2019. PMID: 31037860 Free PMC article. Review.

5

A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement.

Choi SI, Jang MA, Jeong WJ, Jeon BR, Lee YW, Shin HB, Hong DS, Lee YK. Choi SI, et al. Among authors: jang ma. Ann Lab Med. 2017 Jan;37(1):77-80. doi: 10.3343/alm.2017.37.1.77. Ann Lab Med. 2017. PMID: 27834072 Free PMC article. No abstract available.

6

A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis.

Lee ES, Jang MA, Kim HD, Park JE, Kim JW, Ohn YH. Lee ES, et al. Among authors: jang ma. Ann Lab Med. 2019 Jan;39(1):109-112. doi: 10.3343/alm.2019.39.1.109. Ann Lab Med. 2019. PMID: 30215241 Free PMC article. No abstract available.

7

The First Case of Acute Myeloid Leukemia With a Novel Five-way Variant Translocation of RUNX1-RUNX1T1.

Jo YH, Han EA, Park SK, Jeon BR, Jang MA. Jo YH, et al. Among authors: jang ma. Ann Lab Med. 2023 May 1;43(3):315-318. doi: 10.3343/alm.2023.43.3.315. Epub 2022 Dec 22. Ann Lab Med. 2023. PMID: 36544347 Free PMC article. No abstract available.

8

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.

Jang MA, Lee T, Lee J, Cho EH, Ki CS. Jang MA, et al. Ann Lab Med. 2015 May;35(3):362-5. doi: 10.3343/alm.2015.35.3.362. Epub 2015 Apr 1. Ann Lab Med. 2015. PMID: 25932447 Free PMC article.

9

Correspondence: Response to "Evaluating the Cumulative Impact of Ionizing Radiation Exposure With Diagnostic Genetics".

Jang MA, Han EA, Shin HB, Lee YK. Jang MA, et al. Ann Lab Med. 2019 Jul;39(4):419-420. doi: 10.3343/alm.2019.39.4.419. Ann Lab Med. 2019. PMID: 30809993 Free PMC article.

10

Reporting Quality of Diagnostic Accuracy Studies in Laboratory Medicine: Adherence to Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015.

Jang MA, Kim B, Lee YK. Jang MA, et al. Ann Lab Med. 2020 May;40(3):245-252. doi: 10.3343/alm.2020.40.3.245. Ann Lab Med. 2020. PMID: 31858765 Free PMC article.

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