PubRank

Han-Wook Yoo

Author PubWeight™ 82.31‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Identification of 15 loci influencing height in a Korean population. J Hum Genet 2009 1.52
2 Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia. J Pediatr Gastroenterol Nutr 2010 1.47
3 High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr 2011 1.30
4 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. J Pediatr 2011 1.17
5 Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: a Korean multicenter study. Int J Cardiol 2006 1.16
6 Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. Horm Res Paediatr 2010 1.13
7 Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease. Mol Genet Metab 2011 1.02
8 High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. Horm Res Paediatr 2014 1.01
9 Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr 2009 1.00
10 Expression and purification of enzymatically active forms of the human lysyl oxidase-like protein 4. J Biol Chem 2003 0.99
11 Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution. Mol Genet Metab 2012 0.99
12 Identification of a novel human Rad51 variant that promotes DNA strand exchange. Nucleic Acids Res 2008 0.98
13 Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J Hum Genet 2010 0.98
14 Control of puberty: genetics, endocrinology, and environment. Curr Opin Endocrinol Diabetes Obes 2013 0.95
15 Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Clin Endocrinol (Oxf) 2011 0.94
16 Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height. Hum Genet 2011 0.94
17 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. J Hum Genet 2008 0.94
18 Development of SNP-based human identification system. Int J Legal Med 2010 0.93
19 Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. Neuromuscul Disord 2012 0.92
20 Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum Mutat 2007 0.91
21 Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci 2008 0.90
22 High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. Eur J Endocrinol 2011 0.89
23 A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. Eur J Pediatr 2008 0.89
24 Reference values for serum levels of insulin-like growth factor-I and insulin-like growth factor binding protein-3 in Korean children and adolescents. Clin Biochem 2011 0.89
25 Short-term efficacy of monthly pamidronate infusion in patients with osteogenesis imperfecta. J Korean Med Sci 2007 0.89
26 Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res 2005 0.89
27 Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis. Cancer Genet Cytogenet 2010 0.89
28 Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report. Clin Chim Acta 2005 0.88
29 A case of campomelic dysplasia without sex reversal. J Korean Med Sci 2010 0.88
30 Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. Ophthalmology 2012 0.88
31 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. Metabolism 2013 0.87
32 Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. Liver Int 2011 0.86
33 Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome. Int J Mol Med 2003 0.86
34 Chronic intermittent form of isovaleric aciduria in a 2-year-old boy. Korean J Pediatr 2013 0.85
35 Argininemia presenting with progressive spastic diplegia. Pediatr Neurol 2011 0.85
36 KMD: Korean Mutation Database for genes related to diseases. Hum Mutat 2012 0.85
37 The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum albumin in Korean children with Kawasaki disease. Pediatr Res 2007 0.85
38 Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure. J Clin Endocrinol Metab 2010 0.85
39 Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency. Int J Mol Med 2007 0.85
40 Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system. Genet Test 2008 0.84
41 Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro. Hum Mutat 2006 0.84
42 Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development. J Pediatr Endocrinol Metab 2008 0.84
43 High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations. Mol Genet Metab 2012 0.84
44 Genetic variants in the HLA-G region are associated with Kawasaki disease. Hum Immunol 2008 0.84
45 Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis. Int J Mol Med 2006 0.84
46 Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. J Hum Genet 2005 0.83
47 Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation. Horm Res Paediatr 2012 0.83
48 Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly. J Pediatr Gastroenterol Nutr 2015 0.82
49 Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency. Horm Res Paediatr 2015 0.82
50 Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging. Horm Res 2003 0.82
51 Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis. J Korean Med Sci 2008 0.82
52 Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. J Hum Genet 2011 0.82
53 Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood 2009 0.82
54 Identification of a novel single nucleotide polymorphism of HADHA gene at a referred primer-binding site during pre-diagnostic tests for preimplantation genetic diagnosis. J Korean Med Sci 2006 0.81
55 Six cases of citrin deficiency in Korea. Int J Mol Med 2007 0.81
56 Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome. J Hum Genet 2013 0.81
57 Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL. Mutat Res 2005 0.81
58 Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups. Korean J Pediatr 2012 0.81
59 Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster. Am J Med Genet A 2011 0.81
60 Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations. Pediatr Neurol 2008 0.81
61 Low prevalence of classical galactosemia in Korean population. J Hum Genet 2010 0.80
62 Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome. Pediatr Int 2011 0.80
63 Focal hand dystonia in a patient with PANK2 mutation. Mov Disord 2008 0.80
64 Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations. J Clin Neurol 2013 0.80
65 Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant. Metab Brain Dis 2013 0.79
66 Preimplantation genetic diagnosis for ornithine transcarbamylase deficiency by simultaneous analysis of duplex-nested PCR and fluorescence in situ hybridization: a case report. J Korean Med Sci 2007 0.79
67 Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease. Gene 2012 0.79
68 Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. J Hum Genet 2015 0.79
69 Identification of the mechanism underlying a human chimera by SNP array analysis. Am J Med Genet A 2012 0.79
70 The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. Clin Endocrinol (Oxf) 2009 0.79
71 Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea. Korean J Intern Med 2010 0.79
72 A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth. Eur J Pediatr 2006 0.78
73 Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. Metab Brain Dis 2014 0.78
74 X-linked recessive myotubular myopathy with MTM1 mutations. Korean J Pediatr 2013 0.78
75 Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. Clin Endocrinol (Oxf) 2010 0.78
76 Efficacy and safety of LB03002, a once-weekly sustained-release human GH for 12-month treatment in Korean children with GH deficiency. Eur J Endocrinol 2013 0.78
77 Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia. Eur J Pediatr 2010 0.78
78 Implications of slow waves and shifting epileptiform discharges in Angelman syndrome. Brain Dev 2012 0.77
79 A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. Gene 2013 0.77
80 Proteomic analysis of the hepatic tissue of Long-Evans Cinnamon (LEC) rats according to the natural course of Wilson disease. Proteomics 2011 0.77
81 Predictive factors for organic central precocious puberty and utility of simplified gonadotropin-releasing hormone tests. Pediatr Int 2007 0.77
82 The CCR5 (-2135C/T) polymorphism may be associated with the development of Kawasaki disease in Korean children. J Clin Immunol 2008 0.77
83 Common exon 3 polymorphism of the GH receptor (GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS). Clin Endocrinol (Oxf) 2009 0.77
84 The effects of a genetic counseling educational program on hereditary breast cancer for korean healthcare providers. J Breast Cancer 2013 0.77
85 Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. Horm Res 2005 0.77
86 Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations. J Hum Genet 2009 0.77
87 Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation. Mov Disord 2008 0.76
88 Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism. Horm Res Paediatr 2015 0.76
89 Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. Eur J Pediatr 2005 0.76
90 Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations. Horm Res Paediatr 2015 0.75
91 Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease. Medicine (Baltimore) 2017 0.75
92 Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools. Korean J Pediatr 2012 0.75
93 Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation. Korean J Pediatr 2013 0.75
94 Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease. Proteomics Clin Appl 2009 0.75
95 A case of fabry cardiomyopathy. Korean Circ J 2009 0.75
96 Efficacy of short-term growth hormone treatment in prepubertal children with idiopathic short stature. Yonsei Med J 2014 0.75
97 A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. Gut Liver 2012 0.75
98 The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. J Korean Med Sci 2010 0.75
99 Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype. Medicine (Baltimore) 2017 0.75
100 Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders. Horm Res Paediatr 2016 0.75
101 Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. Pediatr Neurol 2010 0.75
102 Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome. Horm Res Paediatr 2015 0.75
103 Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy. Proteomics 2013 0.75
104 [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization]. Korean J Lab Med 2010 0.75
105 A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex. Neurol Sci 2014 0.75
106 Two novel missense mutations observed in nonketotic hyperglycinemia. Pediatr Neurol 2012 0.75
107 Erratum: A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease. J Korean Med Sci 2015 0.75
108 Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome. J Genet 2012 0.75
109 Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector. J Hum Genet 2004 0.75
110 Enhanced SMAD1 Signaling Contributes to Impairments of Early Development in CFC-iPSCs. Stem Cells 2015 0.75
111 [A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]. Korean J Lab Med 2009 0.75
112 Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. J Pediatr Endocrinol Metab 2005 0.75
113 Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita. Metabolism 2011 0.75
114 A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy. Gene 2012 0.75
115 The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease. Metallomics 2013 0.75