Young Bae Sohn

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

Su Jin Kim, Tadeusz Biegański, Young Bae Sohn et al. · Human Genetics · 2011 · 83 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +8

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)

Young Bae Sohn, Sung Yoon Cho, Sung Won Park et al. · Orphanet Journal of Rare Diseases · 2013 · 74 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

Mutation Spectrum of NF1 and Clinical Characteristics in 78 Korean Patients With Neurofibromatosis Type 1

Jung Min Ko, Young Bae Sohn, Seon Yong Jeong et al. · Pediatric Neurology · 2013 · 54 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

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 · 52 citations · Full text

Genetics, Molecular Biology, Pathology +5