Leader of Innovative Molecular Diagnostics

Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.

J Korean Med Sci. 2016 Aug;31(8):1307-18. doi: 10.3346/jkms.2016.31.8.1307. Epub 2016 May 20.

Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study. Yonsei Med J. 2013 Nov;54(6):1463-70.

Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.,Ann Clin Lab Sci. 2013 Summer;43(3):332-6.

Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH. J Genet Med. 2013 Jun;10(1):52-56. 

Comprehensive chromosome analysis of blastocysts before implantation using array CGH. Molecular cytogenetics, 2013 Jun 3;6(1):22.

The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns., Molecular cytogenetics, 2013 Jun 1;6(1):21.

22q11.2 microduplication with thyroid hemiagenesis. Horm Res Paediatr. 2013;79(4):243-9.

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome, J Korean Med Sci 2012; 27: 1586-1590. 

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35microdeletion and identification of four novel NSD1 mutations, J Hum Genet. 2013 Feb;58(2):73-7.

Clinical and cytogenetic features of a Potoki-Lupski syndrome with the shortest 0.25Mb microduplication in 17q11.2 including RAI1, Brain Dev. 2013 Aug;35(7):681-5.

14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure, J Genet Med. 2011 Jun;8(1):62-66.

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases, Molecular cytogenetics, 2011,4:12.

Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome, J Korean Med Sci. 2010 Dec;25(12):1798-801.

Clinical and genetic characteristics of Korean patients with Gaucher disease, Blood Cells Mol Dis. 2011 Jan 15;46(1):11-4.

Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis Type 1, J Kor Med Sci, 2010 Feb;25:804-808. 

The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome, . J Genet Med. 2007 Dec;4(2):133-141.