Midori Mitui

Author PubWeight™ 14.53‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci U S A 2004 1.64
2 Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. J Pediatr 2002 1.57
3 Comparison of automated nucleic acid extraction methods with manual extraction. J Mol Diagn 2008 1.14
4 Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors. Pediatr Blood Cancer 2010 1.01
5 Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate. Tumour Biol 2010 0.97
6 ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. Hum Mutat 2003 0.97
7 A lean laboratory: operational simplicity and cost effectiveness of the Luminex xTAG™ respiratory viral panel. J Mol Diagn 2011 0.96
8 Evaluation of Maxwell® 16 for automated DNA extraction from whole blood and formalin-fixed paraffin embedded (FFPE) tissue. Clin Chem Lab Med 2011 0.88
9 Comprehensive scanning of the ATM gene with DOVAM-S. Hum Mutat 2003 0.86
10 A subset of cranial fasciitis is associated with dysregulation of the Wnt/beta-catenin pathway. Mod Pathol 2008 0.81
11 Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. Am J Med Genet A 2004 0.81
12 ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype. Hum Genet 2005 0.80
13 TP53 codon 72 polymorphisms in favorable histology Wilms tumors. Pediatr Blood Cancer 2011 0.77
14 Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. Pediatr Dev Pathol 2010 0.76
15 Immunohistochemical expression of GLUT1 and its correlation with unfavorable histology and TP53 codon 72 polymorphism in Wilms tumors. Pediatr Dev Pathol 2012 0.76
16 β-Globin gene sequencing of hemoglobin Austin revises the historically reported electrophoretic migration pattern. Arch Pathol Lab Med 2014 0.75
17 Long-range PCR based sequencing of the highly homologous genes, SFTPA1 and SFTPA2. Mol Cell Probes 2013 0.75
18 Homozygous hemoglobin S with concomitant hemoglobin G-Philadelphia: a diagnostic challenge. Pediatr Blood Cancer 2014 0.75