PubRank

Yin-Hsiu Chien

Author PubWeight™ 72.17‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 2011 3.21
2 Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Hum Mutat 2013 2.17
3 Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat 2009 1.78
4 Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand... Autophagy 2007 1.60
5 Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med 2012 1.44
6 Distal arthrogryposis in two sisters born to different fathers. Am J Med Genet A 2004 1.38
7 A step-wise diagnosis of fragile X syndrome in Taiwan. Acta Paediatr Taiwan 2004 1.38
8 Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification. Hum Mol Genet 2011 1.23
9 Gene therapy for aromatic L-amino acid decarboxylase deficiency. Sci Transl Med 2012 1.22
10 Lung toxicity of hydroxypropyl-β-cyclodextrin infusion. Mol Genet Metab 2013 1.19
11 Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin Chim Acta 2010 1.16
12 Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis 2013 1.14
13 Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab 2009 1.13
14 Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis 2010 1.13
15 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med 2012 1.02
16 A promoter sequence variant of ZNF750 is linked with familial psoriasis. J Invest Dermatol 2008 1.02
17 Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol Genet Metab 2009 0.99
18 Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis 2012 0.99
19 KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. Mol Vis 2005 0.94
20 Living-related liver transplantation for methylmalonic acidemia: report of one case. Acta Paediatr Taiwan 2003 0.94
21 Eye anomalies and neurological manifestations in patients with PAX6 mutations. Mol Vis 2009 0.94
22 Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. Mol Genet Metab 2010 0.94
23 Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy. Mol Genet Metab 2010 0.93
24 Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. Mol Genet Metab 2009 0.93
25 CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency. Blood Cells Mol Dis 2009 0.92
26 Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. Hum Mutat 2009 0.91
27 Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency. Neurobiol Dis 2012 0.90
28 Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism. Pediatr Nephrol 2013 0.89
29 Rapid progressive course of later-onset Pompe disease in Chinese patients. Mol Genet Metab 2011 0.89
30 Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. Eur J Pediatr 2007 0.89
31 Algorithm for Pompe disease newborn screening: results from the Taiwan screening program. Mol Genet Metab 2012 0.88
32 Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan. J Inherit Metab Dis 2010 0.88
33 The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients. Acta Neuropathol Commun 2014 0.87
34 Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease. J Pediatr 2009 0.87
35 Newborn screening for neuropathic lysosomal storage disorders. J Inherit Metab Dis 2010 0.85
36 Analysis of lyso-globotriaosylsphingosine in dried blood spots. Ann Lab Med 2013 0.85
37 Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer. J Hum Genet 2012 0.85
38 Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests. BMC Med Genet 2013 0.84
39 Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints. Am J Med Genet A 2010 0.84
40 Caloric restriction in Alström syndrome prevents hyperinsulinemia. Am J Med Genet A 2009 0.84
41 Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype. Pediatr Infect Dis J 2013 0.83
42 Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010. Immunobiology 2011 0.83
43 De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma. Ann Allergy Asthma Immunol 2006 0.83
44 Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. Mol Genet Metab 2012 0.83
45 Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif. BMC Struct Biol 2011 0.82
46 Tandem mass neonatal screening in Taiwan--report from one center. J Formos Med Assoc 2006 0.82
47 Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype. JIMD Rep 2014 0.82
48 SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma. Mol Genet Metab 2011 0.82
49 Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations. J Clin Immunol 2010 0.81
50 Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency. J Pediatr Gastroenterol Nutr 2008 0.81
51 Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment. AJNR Am J Neuroradiol 2004 0.81
52 Promising outcomes in glutaric aciduria type I patients detected by newborn screening. Metab Brain Dis 2012 0.80
53 Newborn screening healthcare information system based on service-oriented architecture. J Med Syst 2009 0.80
54 Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan. Acta Paediatr Taiwan 2003 0.80
55 Early detection of glutaric aciduria type I by newborn screening in Taiwan. J Formos Med Assoc 2008 0.80
56 Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: the importance of early testing. J Formos Med Assoc 2003 0.79
57 Web-based newborn screening system for metabolic diseases: machine learning versus clinicians. J Med Internet Res 2013 0.78
58 Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector. Hum Gene Ther 2014 0.78
59 Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study. J Formos Med Assoc 2002 0.78
60 Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease. Paediatr Anaesth 2008 0.78
61 Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease. J Formos Med Assoc 2002 0.77
62 Myopathy in Gaucher disease. J Inherit Metab Dis 2008 0.77
63 Brain damage by mild metabolic derangements in methylmalonic acidemia. Pediatr Neurol 2008 0.77
64 Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease. Mol Genet Metab 2010 0.77
65 Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism. J Formos Med Assoc 2005 0.77
66 Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy. J Card Fail 2011 0.76
67 Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: report of one case. Acta Paediatr Taiwan 2004 0.76
68 Schizencephaly in LEOPARD syndrome. Pediatr Neurol 2009 0.76
69 A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child. Pediatr Neonatol 2012 0.76
70 Slipped capital femoral epiphysis as a complication of growth hormone therapy. J Formos Med Assoc 2007 0.76
71 Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency. J Inherit Metab Dis 2006 0.76
72 Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system. J Pediatr 2012 0.76
73 Transcatheter closure of portal-systemic shunt combining congenital double extrahepatic inferior vena cava with vascular plug. J Pediatr 2008 0.75
74 An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery. Genet Vaccines Ther 2012 0.75
75 Two frequent mutations associated with the classic form of propionic acidemia in Taiwan. Biochem Genet 2014 0.75
76 Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis. J Hum Genet 2004 0.75
77 Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation. BMC Med Genet 2005 0.75
78 Integrating human genome database into electronic health record with sequence alignment and compression mechanism. J Med Syst 2011 0.75
79 X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males. Pediatr Neonatol 2009 0.75
80 Congenital hypopituitarism due to POU1F1 gene mutation. J Formos Med Assoc 2011 0.75
81 Parental discussion of G6PD deficiency and child health: implications for clinical practice. Arch Dis Child 2013 0.75
82 Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases. Top Curr Chem 2014 0.75
83 Glycogen storage disease type Ib: the first case in Taiwan. Pediatr Neonatol 2009 0.75
84 Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan. Int Arch Allergy Immunol 2007 0.75
85 Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. J Child Neurol 2011 0.75
86 Identification and management of cardiac perforation from a double lumen catheter in an infant. Paediatr Anaesth 2007 0.75
87 Wiskott-Aldrich syndrome complicated by an atypical lymphoproliferative disorder: a case report. J Microbiol Immunol Infect 2005 0.75
88 Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation. Intensive Care Med 2015 0.75
89 AADC deficiency: occurring in humans, modeled in rodents. Adv Pharmacol 2013 0.75
90 Carbohydrate deficient glycoprotein syndrome type Ia. J Formos Med Assoc 2004 0.75