PubRank

Akira Oka

Author PubWeight™ 79.68‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mapping human genetic diversity in Asia. Science 2009 7.40
2 Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet 2006 1.83
3 Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol 2010 1.82
4 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 2004 1.76
5 Gene expression profiling of Japanese psoriatic skin reveals an increased activity in molecular stress and immune response signals. J Mol Med (Berl) 2005 1.62
6 Genetics of Behçet disease inside and outside the MHC. Ann Rheum Dis 2009 1.55
7 Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma. Brain Dev 2010 1.45
8 Hepatoblastoma in a patient with sotos syndrome. J Pediatr 2009 1.40
9 Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome? Brain Dev 2007 1.39
10 Whole genome association study of rheumatoid arthritis using 27 039 microsatellites. Hum Mol Genet 2005 1.36
11 Pioglitazone prevents alcohol-induced fatty liver in rats through up-regulation of c-Met. Gastroenterology 2004 1.35
12 Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes. Brain Dev 2011 1.26
13 Alternative splicing due to an intronic SNP in HMSD generates a novel minor histocompatibility antigen. Blood 2007 1.23
14 Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. Am J Med Genet A 2004 1.19
15 The COL1A1 gene and high myopia susceptibility in Japanese. Hum Genet 2007 1.17
16 Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. Carcinogenesis 2010 1.15
17 Unilateral occlusion of the middle cerebral artery after varicella-zoster virus infection. Brain Dev 2002 1.14
18 N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease. Biochim Biophys Acta 2004 1.05
19 Single nucleotide polymorphisms and outcome risk in unrelated mismatched hematopoietic stem cell transplantation: an exploration study. Blood 2012 0.98
20 A history of our understanding of cerebral vascular development and pathogenesis of perinatal brain damage over the past 30 years. Semin Pediatr Neurol 2009 0.98
21 Infantile botulism caused by Clostridium butyricum type E toxin. Pediatr Neurol 2008 0.96
22 Genomewide association analysis of human narcolepsy and a new resistance gene. Am J Hum Genet 2006 0.96
23 Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype. Hum Mutat 2015 0.95
24 EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally. Hum Mutat 2009 0.95
25 Identification, expression analysis and polymorphism of a novel RLTPR gene encoding a RGD motif, tropomodulin domain and proline/leucine-rich regions. Gene 2004 0.95
26 Screening for congenital cytomegalovirus infection using newborn urine samples collected on filter paper: feasibility and outcomes from a multicentre study. BMJ Open 2011 0.94
27 Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis. Dev Med Child Neurol 2011 0.92
28 Decreased glomerular filtration as the primary factor of elevated circulating suPAR levels in focal segmental glomerulosclerosis. Pediatr Nephrol 2014 0.91
29 Identification of novel candidate loci for anorexia nervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers. J Hum Genet 2009 0.89
30 Magnetic resonance imaging regional T1 abnormalities at term accurately predict motor outcome in preterm infants. Pediatrics 2007 0.89
31 Identification of novel candidate genes in the diffuse panbronchiolitis critical region of the class I human MHC. Immunogenetics 2002 0.88
32 A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis. PLoS One 2011 0.87
33 A single nucleotide polymorphism analysis of the LAMA1 gene in Japanese patients with high myopia. Clin Ophthalmol 2007 0.86
34 Analysis of single nucleotide polymorphisms at 13 loci within the transforming growth factor-induced factor gene shows no association with high myopia in Japanese subjects. Immunogenetics 2006 0.85
35 Polymorphisms in TLR-2 are associated with congenital cytomegalovirus (CMV) infection but not with congenital CMV disease. Int J Infect Dis 2013 0.85
36 Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. Genet Med 2013 0.84
37 Altered expression of ARPP protein in skeletal muscles of patients with muscular dystrophy, congenital myopathy and spinal muscular atrophy. Pathobiology 2004 0.84
38 Lack of an association human dioxin detoxification gene polymorphisms with endometriosis in Japanese women: results of a pilot study. Environ Health Prev Med 2012 0.84
39 New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol 2003 0.83
40 Behavioral and psychiatric disorders in Prader-Willi syndrome: a population study in Japan. Brain Dev 2007 0.83
41 Cardiac-restricted ankyrin-repeated protein is differentially induced in duchenne and congenital muscular dystrophy. Lab Invest 2003 0.83
42 Lack of association with high myopia and the MYP2 locus in the Japanese population by high resolution microsatellite analysis on chromosome 18. Clin Ophthalmol 2007 0.83
43 Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev 2009 0.83
44 High-resolution mapping for essential hypertension using microsatellite markers. Hypertension 2007 0.82
45 Altered nestin expression in the cerebrum with periventricular leukomalacia. Pediatr Neurol 2007 0.82
46 Prediction of Drug Transfer into Milk Considering Breast Cancer Resistance Protein (BCRP)-Mediated Transport. Pharm Res 2015 0.82
47 hRDH-E2 gene polymorphisms, variable transcriptional start sites, and psoriasis. Mamm Genome 2004 0.82
48 Neurodegenerative central nervous system disease as late sequelae of Langerhans cell histiocytosis. Report from the Japan LCH Study Group. Haematologica 2008 0.81
49 Genome wide screen identifies microsatellite markers associated with acute adverse effects following radiotherapy in cancer patients. BMC Med Genet 2010 0.81
50 Mapping of susceptibility and protective loci for acute GVHD in unrelated HLA-matched bone marrow transplantation donors and recipients using 155 microsatellite markers on chromosome 22. Immunogenetics 2007 0.80
51 Association analysis of the HLA-C gene in Japanese alopecia areata. Immunogenetics 2013 0.80
52 Identification of MICA as a susceptibility gene for pulmonary Mycobacterium avium complex infection. J Infect Dis 2009 0.79
53 Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy. Pathol Int 2003 0.79
54 Myelin transcription factor 1 (MyT1) immunoreactivity in infants with periventricular leukomalacia. Brain Res Dev Brain Res 2003 0.79
55 Genome-wide association study of schizophrenia using microsatellite markers in the Japanese population. Psychiatr Genet 2013 0.79
56 Low-loss high-speed silicon IQ modulator for QPSK/DQPSK in C and L bands. Opt Express 2014 0.79
57 Serum hyaluronic acid concentration in Fontan circulation: correlation with hepatic function and portal vein hemodynamics. Pediatr Cardiol 2013 0.78
58 Genome-wide approach to identify second gene targets for malignant rhabdoid tumors using high-density oligonucleotide microarrays. Cancer Sci 2014 0.78
59 Organic cation transporter/solute carrier family 22a is involved in drug transfer into milk in mice. J Pharm Sci 2014 0.78
60 HLA-C*12:02 is a susceptibility factor in late-onset type of psoriasis in Japanese. J Dermatol 2014 0.78
61 Genome-wide association analysis with selective genotyping identifies candidate loci for adult height at 8q21.13 and 15q22.33-q23 in Mongolians. Hum Genet 2008 0.78
62 Subependymal giant cell astrocytoma with positive tuberin expression--case report. Neurol Med Chir (Tokyo) 2003 0.78
63 Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1). Am J Med Genet A 2004 0.78
64 A Thr72Ala polymorphism in the NKG2D gene is associated with early symptomatic congenital cytomegalovirus disease. Infection 2015 0.78
65 HHV-6 encephalopathy with cluster of convulsions during eruptive stage. Pediatr Neurol 2007 0.78
66 Genes in the HLA region indicative for head and neck squamous cell carcinoma. Mol Immunol 2006 0.77
67 [Severe diarrhea associated with X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a case report of successful treatment with the somatostatin analogue octreotide]. No To Hattatsu 2007 0.77
68 Improved loop-mediated isothermal amplification for HLA-DRB1 genotyping using RecA and a restriction enzyme for enhanced amplification specificity. Immunogenetics 2013 0.77
69 Identification and characterization of novel variants of the thioredoxin reductase 3 new transcript 1 TXNRD3NT1. Mamm Genome 2005 0.77
70 Divergence of East Asians and Europeans estimated using male- and female-specific genetic markers. Genome Biol Evol 2014 0.77
71 Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway. Pediatr Int 2010 0.77
72 Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Brain Dev 2004 0.77
73 Alu polymorphism within the MICB gene and association with HLA-B alleles. Immunogenetics 2002 0.76
74 Failure to detect significant association between estrogen receptor-alpha gene polymorphisms and endometriosis in Japanese women. Environ Health Prev Med 2012 0.76
75 A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI. Brain Dev 2008 0.76
76 Assessment of chromosome 19 for genetic association in severe chronic periodontitis. J Periodontol 2009 0.76
77 Microsatellite scanning of the immunogenome associates MAPK14 and ELTD1 with graft-versus-host disease in hematopoietic stem cell transplantation. Immunogenetics 2013 0.75
78 Detecting linkage between a trait and a marker in a random mating population without pedigree record. PLoS One 2009 0.75
79 Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina. PLoS One 2012 0.75
80 Association study between sick building syndrome and polymorphisms of seven human detoxification genes in the Japanese. Environ Toxicol Pharmacol 2009 0.75
81 Fine mapping of a psoriasis-susceptibility locus within the HLA class II region by using microsatellite markers in an association study of Japanese cases and controls. Tokai J Exp Clin Med 2007 0.75
82 Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. Hum Mutat 2004 0.75
83 [X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period]. No To Hattatsu 2007 0.75
84 Cortical gray matter lesions in acute encephalopathy with febrile convulsive status epilepticus. Brain Dev 2008 0.75
85 [Early and serial electrodiagnostic findings in childhood Guillain-Barré syndrome]. No To Hattatsu 2008 0.75
86 Newborn Congenital Cytomegalovirus Screening based on Clinical Manifestations and Evaluation of DNA-based Assays for In Vitro Diagnostics. Pediatr Infect Dis J 2017 0.75
87 Infantile neuronal ceroid lipofuscinosis: the first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency. Brain Dev 2007 0.75
88 [A case of large arteriovenous malformation in the frontal lobe complicating attention-deficit/hyperactivity disorder]. No To Hattatsu 2014 0.75
89 [A patient with HHV-6 encephalopathy showing a cluster of convulsions during the eruptive stage and hyperperfusion of the cerebral hemisphere during the acute phase]. No To Hattatsu 2006 0.75
90 [Photosensitivity in electroencephalogram of a child with 45, X/46, X, mar (X) Turner Syndrome]. No To Hattatsu 2003 0.75
91 Cytokine Profiles in Pericardial Effusion in a Down Syndrome Infant with Transient Abnormal Myelopoiesis. Tohoku J Exp Med 2017 0.75
92 Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy. Clin Dysmorphol 2017 0.75
93 [Relationship between magnocellular function and reading skills in children: a study using visual evoked potentials]. No To Hattatsu 2014 0.75
94 A novel splicing variant of CADM2 as a protective transcript of psoriasis. Biochem Biophys Res Commun 2011 0.75
95 Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies. Pediatr Neurol 2005 0.75
96 Low-loss partial rib polarization rotator consisting only of silicon core and silica cladding. Opt Lett 2015 0.75
97 A non-NF2 case of schwannomas of vestibular and trigeminal nerves with different genetic alterations of NF2 gene: case report. Surg Neurol 2005 0.75
98 Perioperative management of severe congenital protein C deficiency. Blood Coagul Fibrinolysis 2017 0.75
99 Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. Brain Dev 2003 0.75
100 [Molecular screening for moyamoya disease by use of expressed sequence tag on chromosome 3p]. No To Hattatsu 2005 0.75
101 [No association between moyamoya disease and polymorphism of IGF2R]. No To Hattatsu 2005 0.75
102 [Nonconvulsive status epilepticus as an initial symptom in a boy with frontal lobe epilepsy]. No To Hattatsu 2014 0.75
103 Exact break point of a 50 kb deletion 8 kb centromeric of the HLA-A locus with HLA-A*24:02: the same deletion observed in other A*24 alleles and A*23:01 allele. Immunogenetics 2011 0.75
104 Chimerism of buccal membrane cells in a monochorionic dizygotic twin. Pediatrics 2014 0.75
105 Association of sick building syndrome with neuropathy target esterase (NTE) activity in Japanese. Environ Toxicol 2013 0.75
106 Novel Risk Assessment Tool for Immunoglobulin-Resistance in Kawasaki Disease: Application Using a Random Forest Classifier. Pediatr Infect Dis J 2017 0.75