Chong Kun Cheon

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Sang‐Jin Park, Eun Hye Jung, Ran-Suk Ryu et al. · Molecular Cytogenetics · 2011 · 81 citations · Full text

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

Chong Kun Cheon, Sohee Lim, Yoo‐Mi Kim et al. · Scientific Reports · 2017 · 62 citations · Full text

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

Chong Kun Cheon, Young Bae Sohn, Jung Min Ko et al. · Journal of Human Genetics · 2014 · 58 citations · Full text

Mendelian Disorder, Genetic Disorder, Exome Sequencing +10

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

Jin‐Ho Choi, Beom Hee Lee, Ja Hye Kim et al. · Journal of Human Genetics · 2015 · 47 citations · Full text

Genetic Disorder, Genetics, Inherited Metabolic Disease +8

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism

Ja Hye Kim, Young‐Lim Shin, Seung Yang et al. · Clinical Endocrinology · 2015 · 44 citations