Han JY - Search Results

1

Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report.

Han JY, Lee HJ, Lee YM, Park J. Han JY, et al. Children (Basel). 2021 Apr 20;8(4):313. doi: 10.3390/children8040313. Children (Basel). 2021. PMID: 33924158 Free PMC article.

2

A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report.

Han JY, Park J, Jang W, Chae H, Kim M, Kim Y. Han JY, et al. Biomed Rep. 2016 Jul;5(1):18-22. doi: 10.3892/br.2016.675. Epub 2016 May 12. Biomed Rep. 2016. PMID: 27330749 Free PMC article.

3

Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.

Han JY, Lee IG, Jang W, Shin S, Park J, Kim M. Han JY, et al. Clin Chim Acta. 2017 Jul;470:31-35. doi: 10.1016/j.cca.2017.04.025. Epub 2017 Apr 27. Clin Chim Acta. 2017. PMID: 28457852

4

The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.

Han JY, Lee IG, Shin S, Kim M, Jang JH, Park J. Han JY, et al. Eur J Med Genet. 2017 Oct;60(10):499-503. doi: 10.1016/j.ejmg.2017.07.002. Epub 2017 Jul 4. Eur J Med Genet. 2017. PMID: 28687527

5

Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.

Han JY, Lee IG, Jang W, Kim M, Kim Y, Jang JH, Park J. Han JY, et al. Eur J Med Genet. 2017 Oct;60(10):559-564. doi: 10.1016/j.ejmg.2017.08.003. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807762

6

Elevated serum lipoprotein(a) as a risk factor for combined intracranial and extracranial artery stenosis in a child with arterial ischemic stroke: A case report.

Han JY, Kim HJ, Shin S, Park J, Lee IG. Han JY, et al. Medicine (Baltimore). 2017 Dec;96(49):e9025. doi: 10.1097/MD.0000000000009025. Medicine (Baltimore). 2017. PMID: 29245288 Free PMC article.

7

A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.

Han JY, Jang JH, Lee IG, Shin S, Park J. Han JY, et al. Ann Clin Lab Sci. 2017 Nov;47(6):747-753. Ann Clin Lab Sci. 2017. PMID: 29263050

8

Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience.

Han JY, Jang W, Park J, Kim M, Kim Y, Lee IG. Han JY, et al. Ann Hum Genet. 2019 May;83(3):115-123. doi: 10.1111/ahg.12294. Epub 2018 Nov 6. Ann Hum Genet. 2019. PMID: 30402882

9

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH. Jang W, et al. Among authors: han jy, han e. Ann Lab Med. 2019 May;39(3):299-310. doi: 10.3343/alm.2019.39.3.299. Ann Lab Med. 2019. PMID: 30623622 Free PMC article.

10

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.

Han JY, Jang JH, Park J, Lee IG. Han JY, et al. Front Pediatr. 2018 Dec 17;6:391. doi: 10.3389/fped.2018.00391. eCollection 2018. Front Pediatr. 2018. PMID: 30631761 Free PMC article.

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