Published in J Hum Genet on September 20, 2005
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Mapping human genetic diversity in Asia. Science (2009) 7.40
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet (2002) 2.96
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet (2012) 2.75
Anti-CCR4 mAb selectively depletes effector-type FoxP3+CD4+ regulatory T cells, evoking antitumor immune responses in humans. Proc Natl Acad Sci U S A (2013) 2.47
A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet (2006) 2.29
Artemin causes hypersensitivity to warm sensation, mimicking warmth-provoked pruritus in atopic dermatitis. J Allergy Clin Immunol (2012) 2.15
Identification of pregnancy-associated microRNAs in maternal plasma. Clin Chem (2010) 1.95
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A (2011) 1.80
High expression of ATP-binding cassette transporter ABCC11 in breast tumors is associated with aggressive subtypes and low disease-free survival. Breast Cancer Res Treat (2013) 1.78
Kabuki make-up syndrome: a review. Am J Med Genet C Semin Med Genet (2003) 1.76
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
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am J Med Genet A (2006) 1.70
RET/PTC rearrangements preferentially occurred in papillary thyroid cancer among atomic bomb survivors exposed to high radiation dose. Cancer Res (2008) 1.67
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet (2007) 1.65
The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations. J Hum Genet (2012) 1.64
Guidelines for management of atopic dermatitis. J Dermatol (2009) 1.54
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet (2013) 1.52
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet (2004) 1.47
A case of juvenile dermatomyositis manifesting inflammatory epidermal nevus-like skin lesions: unrecognized cutaneous manifestation of blaschkitis? Allergol Int (2010) 1.46
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A (2011) 1.43
Towards global consensus on outcome measures for atopic eczema research: results of the HOME II meeting. Allergy (2012) 1.41
Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). Cleft Palate Craniofac J (2009) 1.41
PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc Natl Acad Sci U S A (2011) 1.38
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat Genet (2012) 1.38
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat (2003) 1.38
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics (2003) 1.38
KDM6A point mutations cause Kabuki syndrome. Hum Mutat (2012) 1.35
Semaphorins guide the entry of dendritic cells into the lymphatics by activating myosin II. Nat Immunol (2010) 1.33
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Hum Mol Genet (2005) 1.30
BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A (2006) 1.30
Dickkopf 1 (DKK1) regulates skin pigmentation and thickness by affecting Wnt/beta-catenin signaling in keratinocytes. FASEB J (2007) 1.29
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
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. Eur J Dermatol (2004) 1.22
The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain. Hum Genet (2003) 1.19
MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A (2013) 1.19
Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type? FASEB J (2009) 1.18
Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients. PLoS One (2013) 1.15
Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb10. Mol Cell Biol (2006) 1.12
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet (2002) 1.09
Intraductal papillary growth of liver metastasis originating from colon carcinoma in the bile duct: report of a case. Surg Today (2011) 1.09
Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome. Am J Hum Genet (2003) 1.09
The skin of patients with systemic sclerosis softened during the treatment with anti-IL-6 receptor antibody tocilizumab. Rheumatology (Oxford) (2010) 1.08
A randomized double-blind trial of intravenous immunoglobulin for pemphigus. J Am Acad Dermatol (2009) 1.06
Periostin facilitates skin sclerosis via PI3K/Akt dependent mechanism in a mouse model of scleroderma. PLoS One (2012) 1.05
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
Steady state migratory RelB+ langerin+ dermal dendritic cells mediate peripheral induction of antigen-specific CD4+ CD25+ Foxp3+ regulatory T cells. Eur J Immunol (2011) 1.03
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet (2007) 1.02
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid. J Hum Genet (2006) 1.01
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. J Hum Genet (2007) 1.01
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. J Hum Genet (2005) 1.01
Induction of beta-defensin 3 in keratinocytes stimulated by bacterial lipopeptides through toll-like receptor 2. Microbes Infect (2006) 1.01
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet A (2005) 1.01
Japanese cedar pollen as an exacerbation factor in atopic dermatitis: results of atopy patch testing and histological examination. Acta Derm Venereol (2006) 1.00
9q34.3 deletion syndrome in three unrelated children. Am J Med Genet A (2004) 1.00
Diagnostic performance of ADC for Non-mass-like breast lesions on MR imaging. Magn Reson Med Sci (2010) 1.00
Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses. Am J Med Genet A (2006) 0.99
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
A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate. Cleft Palate Craniofac J (2006) 0.99
Duplication of 8p23.2: a benign cytogenetic variant? Am J Med Genet (2002) 0.99
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet (2007) 0.99
Putative IgG4-related pituitary disease with hypopituitarism and/or diabetes insipidus accompanied with elevated serum levels of IgG4. Endocr J (2010) 0.99
A tetraploid liveborn neonate: cytogenetic and autopsy findings. Arch Pathol Lab Med (2003) 0.99
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
Dysregulation of melanocyte function by Th17-related cytokines: significance of Th17 cell infiltration in autoimmune vitiligo vulgaris. Pigment Cell Melanoma Res (2012) 0.98
Expression of angiopoietin-like 4 (ANGPTL4) in human colorectal cancer: ANGPTL4 promotes venous invasion and distant metastasis. Oncol Rep (2011) 0.98
Blockade of interleukin-6 receptor alleviates disease in mouse model of scleroderma. Am J Pathol (2011) 0.98
Interstitial type granuloma annulare associated with Sjögren's syndrome. J Dermatol (2010) 0.98
Mesenchymal-epithelial interactions in the skin: aiming for site-specific tissue regeneration. J Dermatol Sci (2005) 0.97
SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet (2010) 0.97
Differential regulation of karyopherin alpha 2 expression by TGF-beta1 and IFN-gamma in normal human epidermal keratinocytes: evident contribution of KPNA2 for nuclear translocation of IRF-1. J Invest Dermatol (2007) 0.97
A novel application of topical rapamycin formulation, an inhibitor of mTOR, for patients with hypomelanotic macules in tuberous sclerosis complex. Arch Dermatol (2012) 0.97
Light and electron microscopic findings in a patient with orbital myolipoma. Graefes Arch Clin Exp Ophthalmol (2003) 0.96
Periostin, a matricellular protein, accelerates cutaneous wound repair by activating dermal fibroblasts. Exp Dermatol (2012) 0.96
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A (2012) 0.95
A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene. BMC Genet (2009) 0.95
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
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome. Am J Med Genet A (2005) 0.95
Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy. Prenat Diagn (2013) 0.95
Papillary tumor of the pineal region. Neurol Med Chir (Tokyo) (2007) 0.94
Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia. Am J Med Genet A (2005) 0.94
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. Am J Med Genet A (2010) 0.94
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest. J Hum Genet (2006) 0.94