Ok-Hwa Kim

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas et al. · Scientific Reports · 2015 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Julie Hoover‐Fong, Nara Sobreira, Julie A. Jurgens et al. · The American Journal of Human Genetics · 2014 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

Byung-Joo Min, Namshin Kim, Taesu Chung et al. · The American Journal of Human Genetics · 2011 · 62 citations · Full text

Medicine, Genetics, Molecular Genetics +16

<i>PAPSS2</i> mutations cause autosomal recessive brachyolmia

Noriko Miyake, Nursel Elçioğlu, Aritoshi Iida et al. · Journal of Medical Genetics · 2012 · 57 citations

Life Sciences, Genetics, Molecular Genetics +15

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis

Tadashi Kaname, Chang‐Seok Ki, Norio Niikawa et al. · Cellular Signalling · 2014 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10