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List of works by Cha Gon Lee

A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings

scientific article published on 24 September 2014

A Novel <i>De Novo</i> Heterozygous <i>ARID1A</i> Missense Variant Cluster in <i>cis</i> c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome

scientific article published on 01 May 2021

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report

scientific article published on 29 March 2018

Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study

scientific article

Clinical and cytogenetic features of a Potocki–Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1 ⬇️

scientific article published on October 15, 2012

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.

scientific article published on 29 November 2012

Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

scientific article

Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication

scientific article published on 9 February 2016

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

scientific article

Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.

scientific article published on 7 December 2012

Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos

scientific article published on 8 February 2016

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant

scientific article published on 09 September 2020

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