Jang SS - Search Results

1

Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.

Choi SA, Cho A, Kim SY, Kim WJ, Shim YK, Lee JS, Jang SS, Lim BC, Kim H, Hwang H, Choi JE, Kim KJ, Kim MJ, Seong MW, Chae JH. Choi SA, et al. Among authors: jang ss. Muscle Nerve. 2019 Dec;60(6):668-672. doi: 10.1002/mus.26700. Epub 2019 Sep 30. Muscle Nerve. 2019. PMID: 31498906

2

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.

Cho JS, Kim SH, Kim HY, Chung T, Kim D, Jang S, Lee SB, Yoo SK, Shin J, Kim JI, Kim H, Hwang H, Chae JH, Choi J, Kim KJ, Lim BC. Cho JS, et al. Epilepsy Res. 2017 Jan;129:118-124. doi: 10.1016/j.eplepsyres.2016.11.022. Epub 2016 Dec 2. Epilepsy Res. 2017. PMID: 28043061 Review.

3

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, Cho EH, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ. Kwak SH, et al. Among authors: jang ss. Exp Mol Med. 2017 Jul 14;49(7):e356. doi: 10.1038/emm.2017.142. Exp Mol Med. 2017. PMID: 28706299 Free PMC article.

4

Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.

Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH. Kim SY, et al. Among authors: jang ss. Muscle Nerve. 2018 Sep;58(3):381-388. doi: 10.1002/mus.26093. Muscle Nerve. 2018. PMID: 29406609

5

Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.

Jang SS, Lim BC, Yoo SK, Shin JY, Kim KJ, Seo JS, Kim JI, Chae JH. Jang SS, et al. Sci Rep. 2018 Jun 6;8(1):8678. doi: 10.1038/s41598-018-26941-0. Sci Rep. 2018. PMID: 29875376 Free PMC article.

6

Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.

Jang SS, Lim BC, Yoo SK, Shin JY, Seo JS, Hwang D, Yoo KY, Chae JH, Kim JI. Jang SS, et al. Prenat Diagn. 2018 Oct;38(11):835-840. doi: 10.1002/pd.5337. Epub 2018 Aug 29. Prenat Diagn. 2018. PMID: 30048567

7

Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies.

Kim SY, Jang SS, Kim JI, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC. Kim SY, et al. Among authors: jang ss. Seizure. 2019 Oct;71:222-228. doi: 10.1016/j.seizure.2019.07.024. Epub 2019 Jul 31. Seizure. 2019. PMID: 31401500 Free article.

8

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Jang SS, Kim SY, Kim H, Hwang H, Chae JH, Kim KJ, Kim JI, Lim BC. Jang SS, et al. Front Neurol. 2019 Sep 13;10:988. doi: 10.3389/fneur.2019.00988. eCollection 2019. Front Neurol. 2019. PMID: 31572294 Free PMC article.

9

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.

Kim SY, Shim Y, Ko YJ, Park S, Jang SS, Lim BC, Kim KJ, Chae JH. Kim SY, et al. Among authors: jang ss. Orphanet J Rare Dis. 2020 Dec 9;15(1):343. doi: 10.1186/s13023-020-01594-3. Orphanet J Rare Dis. 2020. PMID: 33298085 Free PMC article.

10

Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.

Kim SY, Jang SS, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC. Kim SY, et al. Among authors: jang ss. Clin Genet. 2021 Mar;99(3):418-424. doi: 10.1111/cge.13903. Epub 2021 Jan 3. Clin Genet. 2021. PMID: 33349918

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