PubRank

Shinsei Minoshima

Author PubWeight™ 51.88‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Integrative annotation of 21,037 human genes validated by full-length cDNA clones. PLoS Biol 2004 7.17
2 Role of TBX1 in human del22q11.2 syndrome. Lancet 2003 4.45
3 Identification of eight members of the Argonaute family in the human genome. Genomics 2003 3.55
4 The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts. Nucleic Acids Res 2007 2.07
5 The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. Genome Res 2002 2.03
6 DNA sequence and analysis of human chromosome 8. Nature 2006 1.91
7 Recommendations of the 2006 Human Variome Project meeting. Nat Genet 2007 1.90
8 Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. Biochem Biophys Res Commun 2003 1.77
9 Nucleolar localization of DGCR8 and identification of eleven DGCR8-associated proteins. Exp Cell Res 2007 1.60
10 Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. PLoS One 2012 1.17
11 Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet 2003 1.17
12 A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1. Biochem Biophys Res Commun 2003 1.12
13 Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway. Genomics 2007 1.09
14 Distribution and effects of nonsense polymorphisms in human genes. PLoS One 2008 0.99
15 Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species. Gene 2004 0.96
16 Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. J Hum Genet 2011 0.90
17 YPEL5 protein of the YPEL gene family is involved in the cell cycle progression by interacting with two distinct proteins RanBPM and RanBP10. Genomics 2010 0.89
18 Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes. Biol Psychiatry 2011 0.89
19 Establishment and characterization of pleomorphic adenoma cell systems: an in-vitro demonstration of carcinomas arising secondarily from adenomas in the salivary gland. BMC Cancer 2009 0.86
20 Analysis of eighteen deletion breakpoints in the parkin gene. Biochem Biophys Res Commun 2009 0.86
21 Interarm interaction of DNA cruciform forming at a short inverted repeat sequence. Biophys J 2003 0.86
22 Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3. Biochem Biophys Res Commun 2004 0.86
23 Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. J Hum Genet 2010 0.85
24 Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes. J Hum Genet 2010 0.85
25 A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. Genomics 2004 0.85
26 MutationView/KMcancerDB: a database for cancer gene mutations. Cancer Sci 2007 0.83
27 Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. Ophthalmic Genet 2008 0.83
28 Three novel mutations of the PAX6 gene in Japanese aniridia patients. J Hum Genet 2007 0.80
29 KMeyeDB: a graphical database of mutations in genes that cause eye diseases. Hum Mutat 2010 0.80
30 A case of aniridia with unilateral Peters anomaly. J AAPOS 2011 0.79
31 A prioritization analysis of disease association by data-mining of functional annotation of human genes. Genomics 2011 0.79
32 Isolation and characterization of simple repeat sequences from the yellow fin sea bream Acanthopagrus latus (Sparidae). Mol Biol Rep 2005 0.78
33 Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene. Ophthalmic Genet 2013 0.78
34 Prediction of protein-destabilizing polymorphisms by manual curation with protein structure. PLoS One 2012 0.78
35 Multiple gene organization of pufferfish Fugu rubripes tropomyosin isoforms and tissue distribution of their transcripts. Gene 2004 0.77
36 Comparative genomics of the keratin-associated protein (KAP) gene clusters in human, chimpanzee, and baboon. Mamm Genome 2004 0.77
37 A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis. Gene 2012 0.77
38 Interaction between optineurin and the bZIP transcription factor NRL. Cell Biol Int 2013 0.76
39 Identification of novel tropomyosin 1 genes of pufferfish (Fugu rubripes) on genomic sequences and tissue distribution of their transcripts. Mol Biol Rep 2003 0.76
40 [Integrated database for mutations in disease genes: MutationView/KMDB]. Tanpakushitsu Kakusan Koso 2003 0.75
41 Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. Jpn J Ophthalmol 2010 0.75
42 Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene. J Dermatol 2014 0.75
43 Single-stranded DNA structure of a minisatellite sequence isolated from Acanthopagrus latus. Nucleic Acids Symp Ser (Oxf) 2004 0.75
44 Chemical probing and electron microscopic analysis of alternative DNA structure formed in an inverted repeat sequence. Nucleic Acids Res Suppl 2002 0.75
45 Stable minihairpin structures forming at minisatellite DNA isolated from yellow fin sea bream Acanthopagrus latus. Comp Biochem Physiol B Biochem Mol Biol 2006 0.75
46 Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. Jpn J Ophthalmol 2010 0.75
47 Clinical features of a Japanese case with Bothnia dystrophy. Ophthalmic Genet 2011 0.75
48 [The integrated database for mutations in disease-causing genes: Mutation View/KMDB]. Seikagaku 2003 0.75