Kim, Cheol-Hee

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., et al. (2010) · The American Journal of Human Genetics

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 195

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Labonne, J. D. J., Lee, K.-H., Iwase, S., Kong, I.-K., Diamond, M. P., Layman, L. C., Kim, C.-H., & Kim, H.-G. (2016) · Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 61

Structure-Function of the Human WAC Protein in GABAergic Neurons: Towards an Understanding of Autosomal Dominant DeSanto-Shinawi Syndrome

Rudolph, H. C., Stafford, A. M., Hwang, H.-E., Kim, C.-H., Prokop, J. W., & Vogt, D. (2023) · Biology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 8

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X‐linked intellectual disability

Kim, C.-H., Lee, Y.-R., Thomas, M., Roychaudhury, A., Skinner, C., Maconachie, G., Crosier, M., Horak, H., Constantinescu, C., Choi, T.-I., et al. (2023) · Research Square

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 3