Cha G. Lee - Publications

KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: January 11, 2024

Intracranial Vessel Wall Magnetic Resonance Imaging of Middle Cerebral Artery Dissection in Neurofibromatosis Type 1.

Journal: Stroke

Published: July 27, 2023

Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies.

Journal: Neurology. Genetics

Published: April 03, 2023

Effects of once-weekly dulaglutide on juvenile type 2 diabetes mellitus and obesity in Korea: a pilot study.

Journal: Annals of pediatric endocrinology & metabolism

Published: August 23, 2022

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

Journal: American journal of medical genetics. Part A

Published: June 23, 2020

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

Journal: Annals of laboratory medicine

Published: June 12, 2020

PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.

Journal: European journal of medical genetics

Published: February 13, 2019

First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).

Journal: Annals of pediatric endocrinology & metabolism

Published: December 21, 2018

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

Journal: PloS one

Published: February 25, 2018

Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family.

Journal: Annals of clinical and laboratory science

Published: April 27, 2017

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

Journal: PloS one

Published: March 08, 2017

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

Journal: Molecular medicine reports

Published: December 23, 2016