Seo J - Search Results

1

Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility.

Seo J, Byun MS, Yi D, Lee JH, Jeon SY, Shin SA, Kim YK, Kang KM, Sohn CH, Jung G, Park JC, Han SH, Byun J, Mook-Jung I, Lee DY, Choi M; KBASE Research Group. Seo J, et al. Alzheimers Res Ther. 2020 Nov 19;12(1):156. doi: 10.1186/s13195-020-00722-2. Alzheimers Res Ther. 2020. PMID: 33213512 Free PMC article.

2

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB. Seo J, et al. J Hum Genet. 2015 Apr;60(4):213-5. doi: 10.1038/jhg.2015.2. Epub 2015 Jan 22. J Hum Genet. 2015. PMID: 25608830

3

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.

Ko JM, Jung S, Seo J, Shin CH, Cheong HI, Choi M, Kim OH, Cho TJ. Ko JM, et al. Among authors: seo j. J Hum Genet. 2016 Jun;61(6):561-4. doi: 10.1038/jhg.2015.174. Epub 2016 Jan 21. J Hum Genet. 2016. PMID: 26791357 Review.

4

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.

Ko JM, Seo J, Choi M, Song J, Lee KA, Shin CH. Ko JM, et al. Among authors: seo j. Ann Clin Lab Sci. 2016 Winter;46(1):97-101. Ann Clin Lab Sci. 2016. PMID: 26927351

5

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

Min Ko J, Cho JS, Yoo Y, Seo J, Choi M, Chae JH, Lee HR, Cho TJ. Min Ko J, et al. Among authors: seo j. J Child Neurol. 2017 Feb;32(2):237-242. doi: 10.1177/0883073816674095. Epub 2016 Oct 24. J Child Neurol. 2017. PMID: 27777327

6

Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

Lee JS, Seo J, Cho A, Lim BC, Choi M, Kim JW, Kim OH, Cho TJ, Chae JH. Lee JS, et al. Among authors: seo j. Brain Dev. 2017 Oct;39(9):799-803. doi: 10.1016/j.braindev.2017.04.020. Epub 2017 Jun 28. Brain Dev. 2017. PMID: 28668235

7

Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial G8363A Mutation in a Family.

Kim S, Han J, Kim HA, Lim BC, Seo JE, Choi M, Kim KJ, Lee IG, Chae JH. Kim S, et al. Among authors: seo je. Ann Clin Lab Sci. 2018 Jul;48(4):546-548. Ann Clin Lab Sci. 2018. PMID: 30143501 No abstract available.

8

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.

Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, Hong SE, Kim E, Kim H, Kim WJ, Kim JS, Ko JM, Cho A, Lim BC, Kim WS, Choi M, Chae JH. Lee Y, et al. Among authors: seo j. Sci Rep. 2020 Jan 29;10(1):1413. doi: 10.1038/s41598-020-58101-8. Sci Rep. 2020. PMID: 31996704 Free PMC article.

9

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.

Seo J, Lee CR, Paeng JC, Kwon HW, Lee D, Kim SC, Han J, Ku JL, Chae JH, Lim BC, Choi M. Seo J, et al. Ann Clin Transl Neurol. 2020 Aug;7(8):1443-1449. doi: 10.1002/acn3.51125. Epub 2020 Jul 5. Ann Clin Transl Neurol. 2020. PMID: 32627353 Free PMC article.

10

Multi-Omics-Based Autophagy-Related Untypical Subtypes in Patients with Cerebral Amyloid Pathology.

Park JC, Barahona-Torres N, Jang SY, Mok KY, Kim HJ, Han SH, Cho KH, Zhou X, Fu AKY, Ip NY, Seo J, Choi M, Jeong H, Hwang D, Lee DY, Byun MS, Yi D, Han JW, Mook-Jung I, Hardy J. Park JC, et al. Among authors: seo j. Adv Sci (Weinh). 2022 Aug;9(23):e2201212. doi: 10.1002/advs.202201212. Epub 2022 Jun 13. Adv Sci (Weinh). 2022. PMID: 35694866 Free PMC article.

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