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

Su Jin Kim, Tadeusz Biegański, Young Bae Sohn, +14

Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +6

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, +5

Orphanet Journal of Rare Diseases

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

Chong Kun Cheon, Young Bae Sohn, Jung Min Ko, +8

Journal of Human Genetics

Mendelian DisorderGenetic DisorderExome SequencingGeneticsMedicine +8

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

Jung Min Ko, Young Bae Sohn, Seon Yong Jeong, +2

Pediatric Neurology

Mendelian DisorderGenetic DisorderGeneticsPathologyNeurofibromatosis Type 1 +6

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, +29

Cellular Signalling

GeneticsMolecular BiologyPathologyCyclic Amp Phosphodiesterase-4dMolecular Genetics +3

Familial Xp22.33‐Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

Sung Yoon Cho, Chang‐Seok Ki, Ja‐Hyun Jang, +5

American Journal of Medical Genetics Part A

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations

Young Bae Sohn, Cha Gon Lee, Jung Min Ko, +6

Journal of Human Genetics

Sotos SyndromeGenetic DisorderGeneticsInherited Metabolic DiseasePathology +5

High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)

Jeong‐Yi Kwon, Kiljun Ko, Young Bae Sohn, +5

American Journal of Medical Genetics Part A

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

Cha Gon Lee, Sang‐Jin Park, Jun-No Yun, +2

Journal of Korean Medical Science

Reciprocal DeletionMendelian DisorderGenetic DisorderGeneticsPathology +10

Continuous renal replacement therapy in neonates weighing less than 3 kg

Young Bae Sohn, Kyung Hoon Paik, Hee Yeon Cho, +7

Korean Journal of Pediatrics