PubRank

Tohru Ohta

Author PubWeight™ 64.76‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010 12.63
2 Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004 6.15
3 Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002 2.96
4 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 2012 2.75
5 A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet 2006 2.29
6 Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air. Hum Mol Genet 2005 1.76
7 LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet 2004 1.47
8 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 2011 1.43
9 Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 2003 1.38
10 Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 2003 1.38
11 BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A 2006 1.30
12 Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am J Hum Genet 2004 1.27
13 The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain. Hum Genet 2003 1.19
14 MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A 2013 1.19
15 Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb10. Mol Cell Biol 2006 1.12
16 Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet 2002 1.09
17 A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. J Hum Genet 2002 1.04
18 Simultaneous microscopic and endoscopic monitoring during surgery for internal carotid artery aneurysms. J Neurosurg 2004 1.02
19 Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet A 2005 1.01
20 Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet A 2013 0.99
21 Duplication of 8p23.2: a benign cytogenetic variant? Am J Med Genet 2002 0.99
22 On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. Am J Med Genet A 2004 0.99
23 Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain. J Hum Genet 2006 0.95
24 Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A 2012 0.95
25 A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway. J Hum Genet 2002 0.90
26 Molecular characterization of inv dup del(8p): analysis of five cases. Am J Med Genet A 2004 0.89
27 The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. J Hum Genet 2004 0.88
28 Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting. Genomics 2003 0.88
29 Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet 2003 0.88
30 Direct repair of a blisterlike aneurysm on the internal carotid artery with vascular closure staple clips. Technical note. J Neurosurg 2004 0.87
31 On the conflicting reports of imprinting status of mouse ATP10a in the adult brain: strain-background-dependent imprinting? J Hum Genet 2003 0.86
32 Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32. Genomics 2004 0.86
33 No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients. Am J Med Genet A 2006 0.86
34 Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes. BMC Genomics 2005 0.85
35 Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene. Gene 2008 0.83
36 The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting. Gene 2002 0.83
37 A polymerase chain reaction-based method for constructing a linear vector with site-specific DNA methylation. Anal Biochem 2011 0.83
38 Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. Am J Med Genet A 2003 0.80
39 Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. J Hum Genet 2002 0.79
40 Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome. Pediatr Int 2012 0.78
41 Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus. Am J Med Genet 2002 0.77
42 Anorexigenic melanocortin signaling in the hypothalamus is augmented in association with failure-to-thrive in a transgenic mouse model for Prader-Willi syndrome. Brain Res 2002 0.77
43 Phenotype-genotype correlation in two patients with 12q proximal deletion. J Hum Genet 2004 0.77
44 Angelman syndrome caused by an identical familial 1,487-kb deletion. Am J Med Genet A 2007 0.76