Jong Eun Park
Hanyang University
35 Papers
44 Citations
Jong Eun Park is an academic researcher from Hanyang University. The author has contributed to research in topics: Medicine & Population. The author has an hindex of 5, co-authored 25 publications. Previous affiliations of Jong Eun Park include Samsung Medical Center & Sungkyunkwan University.
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Papers
Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population.
TL;DR: The data suggest that PMP22 Del HNPP might not be uncommon at least in the Korean population, but could be underestimated because of the mild symptoms of HnPP.
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Genomic Analysis of Korean Patient With Microcephaly
Ji Won Lee,Jong Eun Park,Chung Lee,Ah Reum Kim,Byung Joon Kim,Woong-Yang Park,Chang-Seok Ki,Jeehun Lee +7 more
TL;DR: In this article, the authors comprehensively investigated the clinical phenotypes and genetic background of microcephaly in 40 Korean patients and conducted whole exome sequencing (WES) and analysis of copy number variation (CNV).
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm
Jong Eun Park,Jin-Seok Park,Shin Yi Jang,Seok Hee Park,Jong-Won Kim,Chang-Seok Ki,Duk Kyung Kim +6 more
TL;DR: Novel in‐frame variants in SMAD6 are identified in a BAV patient, who presented with dilatation of the ascending aorta and severe calcification of the aortic valve.
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Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation.
TL;DR: A somatic mutation of GNAQ (c.548G>A, p.Arg183Gln) plays a key role in capillary malformation development and clinical manifestations of port‐win stain (PWS) associated with this genetic mutation are evaluated.
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A case of Bacteroides pyogenes bacteremia secondary to liver abscess.
Jong Eun Park,So-Young Park,Dong Joon Song,Hee Jae Huh,Chang-Seok Ki,Kyong Ran Peck,Nam Yong Lee +6 more
TL;DR: The first case of B. pyogenes bacteremia secondary to liver abscess with no history of an animal bite is reported and the microorganism was identified by 16S rRNA sequencing.
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