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Han‐Wook Yoo

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
2019 · Anthony A. Portale, Thomas O. Carpenter, et al. · Calcified Tissue International · 172
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Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry
2016 · Alberto Ortiz, Ademola Abiose, et al. · Journal of Medical Genetics · 148
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Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease
2015 · Eun-Hee Kim, Mi-Sun Yum, et al. · Journal of neurosurgery · 121
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PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome
2008 · Jung Min Ko, Jae-Min Kim, et al. · Journal of Human Genetics · 113
Identification of 15 loci influencing height in a Korean population
2009 · Jae-Jung Kim, Hae-In Lee, et al. · Journal of Human Genetics · 112
The definition of neuronopathic Gaucher disease
2020 · Raphael Schiffmann, Jeff Sevigny, et al. · Journal of Inherited Metabolic Disease · 100
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Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes
2011 · Beom Hee Lee, Jae-Min Kim, et al. · The Journal of Pediatrics · 99
Hydroxymethylbilane Synthase: Complete Genomic Sequence and Amplifiable Polymorphisms in the Human Gene
1993 · Han-Wook Yoo, Cecilia A. Warner, et al. · Genomics · 99
Reference values for serum levels of insulin-like growth factor-I and insulin-like growth factor binding protein-3 in Korean children and adolescents
2011 · Sei Eun Hyun, Byung Churl Lee, et al. · Clinical Biochemistry · 94
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease
2021 · Christopher J. Collins, Fan Yi, et al. · Gastroenterology · 89
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report
2005 · Hye-Ran Yoon, Kyung Ryul Lee, et al. · Clinica Chimica Acta · 80
Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension
2021 · Karine Briot, Anthony A Portale, et al. · RMD Open · 79
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A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation
2013 · Yoo-Mi Kim, Minji Kang, et al. · Metabolism · 79
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
2020 · Dominique P Germain, João Paulo Oliveira, et al. · Journal of Medical Genetics · 78
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Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development
2017 · Ja Hye Kim, Eungu Kang, et al. · Molecular and Cellular Endocrinology · 78
Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease
2021 · Hye-Young Jin, Jae-Sang Lim, et al. · BMC Pediatrics · 70
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Liquid chromatography–tandem mass spectrometric determination of ceramides and related lipid species in cellular extracts
2006 · H YOO, J SON, et al. · Journal of Chromatography B · 66
Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome
2005 · Jin-Ho Choi, Young-Lim Shin, et al. · Hormone Research in Paediatrics · 66
Clinical and Functional Characteristics of a Novel Heterozygous Mutation of theIGF1RGene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure
2010 · Jin-Ho Choi, Minji Kang, et al. · The Journal of Clinical Endocrinology & Metabolism · 65
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort
2011 · Beom H. Lee, Joo H. Kim, et al. · Liver International · 64
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease
2002 · Han-Wook Yoo · Genetics in Medicine · 64
High Incidence of PRSS1 and SPINK1 Mutations in Korean Children With Acute Recurrent and Chronic Pancreatitis
2011 · Yeoun Joo Lee, Kyung Mo Kim, et al. · Journal of Pediatric Gastroenterology and Nutrition · 62
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands
2014 · Hye Young Jin, Sun-Hee Heo, et al. · Hormone Research in Paediatrics · 61
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
2019 · Eungu Kang, Yoon-Myung Kim, et al. · Journal of Human Genetics · 60
Identification of novelATP7Bgene mutations and their functional roles in Korean patients with Wilson disease
2007 · Sangwook Park, Jung-Young Park, et al. · Human Mutation · 58
Works count: 404
Citation count: 6,274
H-index: 41
I10-index: 172
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