Publication & Citation Trends
Most Cited Works
Publications
397 total
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3. OA
Cited by 1
Semantic Scholar
Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant
Cited by 3
Semantic Scholar
Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles OA
Cited by 10
Semantic Scholar
Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA OA
Cited by 2
Semantic Scholar
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome OA
Cited by 0
Semantic Scholar
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. OA
Cited by 15
Semantic Scholar
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases OA
Cited by 5
Semantic Scholar
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. OA
Cited by 23
Semantic Scholar
Research Topics
Bone fractures and treatments
(87)
Hip disorders and treatments
(74)
Connective tissue disorders research
(69)
Orthopaedic implants and arthroplasty
(48)
Cerebral Palsy and Movement Disorders
(30)
Frequent Co-Authors
Affiliations
Boston University
Boston Medical Center
U.S. National Science Foundation
Seoul National University
Chungbuk National University