PubRank

Yumi Kasai

Author PubWeight™ 27.49‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia. Blood 2008 3.89
2 Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood 2007 3.73
3 PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data. Genome Res 2007 2.58
4 Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. Cancer Res 2008 2.48
5 C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007 2.35
6 Mutational analysis of EGFR and related signaling pathway genes in lung adenocarcinomas identifies a novel somatic kinase domain mutation in FGFR4. PLoS One 2007 2.25
7 Identification of somatic JAK1 mutations in patients with acute myeloid leukemia. Blood 2007 1.55
8 Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. PLoS One 2009 1.53
9 Analytical validation of whole exome and whole genome sequencing for clinical applications. BMC Med Genomics 2014 1.27
10 Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. J Pediatr Hematol Oncol 2006 1.15
11 Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology 2013 1.06
12 Efficient adenovirus transduction of 3T3-L1 adipocytes stably expressing coxsackie-adenovirus receptor. Biochem Biophys Res Commun 2003 1.01
13 The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A 2010 0.97
14 Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res 2007 0.85
15 Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry. Anal Chem 2010 0.82
16 Absence of mutations in the epidermal growth factor receptor (EGFR) kinase domain in patients with mesothelioma. J Thorac Oncol 2009 0.80