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D. Jin · SciRah

Researcher profile · Semantic Scholar

D. Jin

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D. Jin — researcher profile on SciRah

h-index: 37
Works: 369
Citations: 5,285

Most-cited papers

Combination Therapy of Rosuvastatin and Ezetimibe in Patients with High Cardiovascular Risk.
Young-June Yang, Sang-Hak Lee, Byung-Soo Kim, Yunkyung Cho +29 more
2017Clinical Therapeutics47 citations Open access
Semantic Scholar
Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency
A. Yang, S. Cho, M. Kwak, S. Kim +3 more
2019Scientific Reports36 citations Open access
Semantic Scholar
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
S. Cho, Jun‐Seok Bae, Na-young Kim, F. Forzano +16 more
2016American Journal of Human Genetics34 citations Open access
Semantic Scholar
Ptosis in childhood: A clinical sign of several disorders
P. Pavone, S. Cho, A. Praticò, R. Falsaperla +2 more
2018Medicine31 citations Open access
Semantic Scholar
Acromesomelic dysplasia, type maroteaux caused by novel loss‐of‐function mutations of the NPR2 gene: Three case reports
Wei Wang, Mi Hyun Song, Kohji Miura, M. Fujiwara +9 more
2016American Journal of Medical Genetics. Part A29 citations
Semantic Scholar
Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta
S. Cho, P. Asharani, O. Kim, A. Iida +14 more
2015Human Mutation29 citations
Semantic Scholar
Prevalence and risk factors for type 2 diabetes mellitus with Prader–Willi syndrome: a single center experience
A. Yang, Jinsup Kim, S. Cho, D. Jin
2017Orphanet Journal of Rare Diseases27 citations Open access
Semantic Scholar
Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial
A. Yang, Jin-Ho Choi, Y. Sohn, Yunae Eom +3 more
2019Orphanet Journal of Rare Diseases26 citations Open access
Semantic Scholar
Clinical and endocrine characteristics and genetic analysis of Korean children with McCune–Albright syndrome: a retrospective cohort study
E. Cho, Jinsup Kim, A. Yang, C. Ki +3 more
2016Orphanet Journal of Rare Diseases25 citations Open access
Semantic Scholar
Long-Term Antithyroid Drug Treatment of Graves’ Disease in Children and Adolescents: A 20-Year Single-Center Experience
Ari Song, S. Kim, Min-Sun Kim, Jiyeon Kim +7 more
2021Frontiers in Endocrinology24 citations Open access
Semantic Scholar
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology
Y. Sohn, Ah-Ra Ko, Mi-ran Seong, Soyeon Lee +9 more
2018Journal of Inherited Metabolic Disease24 citations
Semantic Scholar
Etiological trends in male central precocious puberty
Ji-Sun Lee, Jinsup Kim, A. Yang, S. Cho +1 more
2018Annals of Pediatric Endocrinology & Metabolism24 citations Open access
Semantic Scholar
Prader-Willi syndrome: an update on obesity and endocrine problems
S. Kim, S. Cho, D. Jin
2021Annals of Pediatric Endocrinology & Metabolism22 citations Open access
Semantic Scholar
Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study
J. Hwang, Hae-sang Lee, K. Lee, H. Yoo +9 more
2018Hormone Research in Paediatrics22 citations Open access
Semantic Scholar
Clinical Presentation and Treatment Outcomes of Children and Adolescents With Pheochromocytoma and Paraganglioma in a Single Center in Korea
Hyojung Park, Min-Sun Kim, Jiwon Lee, Jung-Han Kim +5 more
2021Frontiers in Endocrinology21 citations Open access
Semantic Scholar
Clinical, Hormonal, and Neuroradiological Characteristics and Therapeutic Outcomes of Prolactinomas in Children and Adolescents at a Single Center
A. Yang, S. Cho, Hyojung Park, Min Sun Kim +3 more
2020Frontiers in Endocrinology21 citations Open access
Semantic Scholar
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II
S. Cho, Jee-Hun Lee, Ah-Ra Ko, M. Kwak +4 more
2015Orphanet Journal of Rare Diseases21 citations Open access
Semantic Scholar
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
M. Kwak, R. Huh, Jinsup Kim, H. Park +2 more
2016BMC Medical Genetics19 citations Open access
Semantic Scholar
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
P. Pavone, G. Corsello, S. Cho, X. Pappalardo +5 more
2019Italian Journal of Pediatrics17 citations Open access
Semantic Scholar
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
Mina Yang, Yun-Cho Sung, H. Park, R. Choi +8 more
2017Orphanet Journal of Rare Diseases17 citations Open access
Semantic Scholar
Impact of growth hormone treatment on scoliosis development and progression: analysis of 1128 patients with idiopathic short stature
Se-Jun Park, Keun-Ho Lee, Chong S. Lee, Ki-tack Kim +6 more
2020Journal of Pediatric Endocrinology & Metabolism (JPEM)16 citations
Semantic Scholar
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
Ah-Ra Ko, D. Jin, S. Cho, Sung Won Park +7 more
2016Molecular Genetics and Metabolism16 citations
Semantic Scholar
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome
Chihwa Kim, M. Kwak, S. Cho, Ah-Ra Ko +4 more
2015Orphanet Journal of Rare Diseases16 citations Open access
Semantic Scholar
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
Yasuyuki Fukuhara, S. Cho, O. Miyazaki, Atsushi Hattori +7 more
2018Clinical Dysmorphology15 citations Open access
Semantic Scholar
A case of de novo 18p deletion syndrome with panhypopituitarism
A. Yang, Jinsup Kim, S. Cho, Ji-Eun Lee +2 more
2019Annals of Pediatric Endocrinology & Metabolism14 citations Open access
Semantic Scholar
Auditory Characteristics in Patients With Mucopolysaccharidosis.
Jungmin Ahn, Jung Joo Lee, Song I. Park, S. Cho +5 more
2019Otology and Neurotology14 citations
Semantic Scholar
Recombinant growth hormone therapy for prepubertal children with idiopathic short stature in Korea: a phase III randomized trial
Jinsup Kim, Byung-Kyu Suh, C. Ko, K. Lee +10 more
2017Journal of Endocrinological Investigation14 citations Open access
Semantic Scholar
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
Jaeyoung Choi, A. Yang, Ari Song, Mi-Kyung Lim +5 more
2018Annals of Clinical and Laboratory Science13 citations
Semantic Scholar
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III
Min-Sun Kim, A. Yang, E. Noh, C. Kim +5 more
2022Journal of Personalized Medicine12 citations Open access
Semantic Scholar
Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial
W. Chung, H. Yoo, J. Hwang, C. Ko +6 more
2018Hormone Research in Paediatrics11 citations Open access
Semantic Scholar
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.
A. Yang, S. Cho, Ja-Hyun Jang, Jinsup Kim +4 more
2017Clinica chimica acta; international journal of clinical chemistry11 citations
Semantic Scholar
First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
Ari Song, Min-Ji Im, Min-Sun Kim, E. Noh +6 more
2022Annals of Pediatric Endocrinology & Metabolism9 citations Open access
Semantic Scholar
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
E. Cho, Jinsup Kim, A. Yang, S. Cho +1 more
2017Annals of Pediatric Endocrinology & Metabolism9 citations Open access
Semantic Scholar
Endocrine and Metabolic Illnesses in Young Adults with Prader–Willi Syndrome
E. Noh, Min-Sun Kim, C. Kim, K. Jeon +3 more
2022Journal of Personalized Medicine8 citations Open access
Semantic Scholar
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Mi-Sun Yang, Jinsup Kim, A. Yang, Ja-Hyun Jang +3 more
2018Annals of Pediatric Endocrinology & Metabolism8 citations Open access
Semantic Scholar
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
Hye-In Jeong, A. Yang, Jinsup Kim, Ja-Hyun Jang +2 more
2018Annals of Clinical and Laboratory Science8 citations
Semantic Scholar
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report
A. Yang, Jinsup Kim, C. Ki, S. Hong +2 more
2017BMC Medical Genetics8 citations Open access
Semantic Scholar
Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis
Hyojung Park, Min-Sun Kim, Jiyeon Kim, Sae-Mi Lee +3 more
2021Annals of Pediatric Endocrinology & Metabolism7 citations Open access
Semantic Scholar
Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome
Min-Sun Kim, Jiyeon Kim, Joongbum Cho, S. Cho +1 more
2021Annals of Pediatric Endocrinology & Metabolism7 citations Open access
Semantic Scholar
GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
S. Cho, D. Jin
2021Journal of genetic medicine7 citations Open access
Semantic Scholar
A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse
Seok-Ho Shin, Min-Ho Park, Jin-Ju Byeon, Byeong Ill Lee +9 more
2018Pharmaceutics7 citations Open access
Semantic Scholar
Estrogen-mediated Height Control in Girls with Marfan Syndrome
Dong-Yun Lee, Hye Sun Hyun, R. Huh, D. Jin +3 more
2016Journal of Korean medical science7 citations Open access
Semantic Scholar
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia.
M. Chang, J. Han, Jieun Lee, Younghee Kwun +5 more
2015Annals of Clinical and Laboratory Science7 citations
Semantic Scholar
Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
P. Pavone, X. Pappalardo, Naira M Mustafa, S. Cho +7 more
2022Italian Journal of Pediatrics6 citations Open access
Semantic Scholar
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center
Min-Sun Kim, Ari Song, Min-Ji Im, J. Huh +10 more
2018Korean Journal of Pediatrics6 citations Open access
Semantic Scholar
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim +2 more
2018Annals of Pediatric Endocrinology & Metabolism6 citations Open access
Semantic Scholar
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor
Arya Shambhavi, S. Salian, Hitesh Shah, M. Nair +6 more
2017Journal of Pediatric Genetics6 citations Open access
Semantic Scholar
A Multi-Center, Prospective Observational Study to Investigate the Safety, Compliance, and Efficacy of Omethyl QTlet Soft Capsule
Y. Ki, Sang-Jin Han, T. Cha, Jae Hyuk Lee +11 more
2022Journal of Clinical Medicine5 citations Open access
Semantic Scholar
Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrum
A. Yang, Jinsup Kim, Ja-Hyun Jang, Chung Lee +3 more
2019Annals of Human Genetics5 citations
Semantic Scholar
Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy.
M. Kwak, H. Lee, Young Mi Kim, S. Cho +2 more
2018Annals of Clinical and Laboratory Science5 citations
Semantic Scholar

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