Published in J Hum Genet on January 29, 2010
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Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Am J Hum Genet (2013) 1.39
Zebrafish: a model for the study of addiction genetics. Hum Genet (2011) 1.03
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. Genetics (2014) 0.96
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet (2014) 0.90
Zebrafish as a model to understand autophagy and its role in neurological disease. Biochim Biophys Acta (2011) 0.80
Toward developmental models of psychiatric disorders in zebrafish. Front Neural Circuits (2013) 0.79
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review. Mol Syndromol (2016) 0.75
Differentiation and transplantation of human embryonic stem cell-derived hepatocytes. Gastroenterology (2008) 3.99
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet (2007) 3.08
Early human atherosclerosis: accumulation of lipid and proteoglycans in intimal thickenings followed by macrophage infiltration. Arterioscler Thromb Vasc Biol (2007) 2.58
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. Mol Genet Metab (2010) 2.23
Pachygyria and polymicrogyria in 22q11 deletion syndrome. Am J Med Genet A (2003) 2.06
Chronic kidney disease is associated with neovascularization and intraplaque hemorrhage in coronary atherosclerosis in elders: results from the Hisayama Study. Kidney Int (2013) 2.03
Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet (2004) 1.98
Phosphofructokinase deficiency impairs ATP generation, autophagy, and redox balance in rheumatoid arthritis T cells. J Exp Med (2013) 1.96
Association of kidney function with coronary atherosclerosis and calcification in autopsy samples from Japanese elders: the Hisayama study. Am J Kidney Dis (2009) 1.80
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
Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med (2003) 1.68
Efficacy of intravenous midazolam for status epilepticus in childhood. Pediatr Neurol (2007) 1.58
Urinary excretion of fatty acid-binding protein reflects stress overload on the proximal tubules. Am J Pathol (2004) 1.56
Deficiency of the DNA repair enzyme ATM in rheumatoid arthritis. J Exp Med (2009) 1.54
Catalytic mechanism of heme oxygenase through EPR and ENDOR of cryoreduced oxy-heme oxygenase and its Asp 140 mutants. J Am Chem Soc (2002) 1.48
Construction of a single nucleotide polymorphism linkage map for the silkworm, Bombyx mori, based on bacterial artificial chromosome end sequences. Genetics (2006) 1.48
Flagellate erythema. Int J Dermatol (2006) 1.45
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet (2012) 1.45
Refractory epilepsy accompanying acute encephalitis with multifocal cortical lesions: possible autoimmune etiology. Brain Dev (2007) 1.44
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol (2011) 1.43
Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin. Brain Dev (2008) 1.41
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol (2004) 1.40
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
Pyoderma gangrenosum following surgical procedures. Int J Dermatol (2010) 1.38
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol (2006) 1.34
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia (2010) 1.30
Rejuvenating the immune system in rheumatoid arthritis. Nat Rev Rheumatol (2009) 1.29
Sustained activation of fibroblast transforming growth factor-beta/Smad signaling in a murine model of scleroderma. J Invest Dermatol (2003) 1.26
Defective proliferative capacity and accelerated telomeric loss of hematopoietic progenitor cells in rheumatoid arthritis. Arthritis Rheum (2008) 1.25
Hepatic irradiation augments engraftment of donor cells following hepatocyte transplantation. Hepatology (2009) 1.23
Ectopic expression of an FT homolog from citrus confers an early flowering phenotype on trifoliate orange (Poncirus trifoliata L. Raf.). Transgenic Res (2005) 1.23
Telomeres and immunological diseases of aging. Gerontology (2009) 1.22
Microarray analysis identifies an aberrant expression of apoptosis and DNA damage-regulatory genes in multiple sclerosis. Neurobiol Dis (2005) 1.20
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. Am J Med Genet A (2010) 1.20
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. Am J Med Genet A (2004) 1.19
Telomeres, immune aging and autoimmunity. Exp Gerontol (2006) 1.17
Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. Ann Neurol (2002) 1.16
Dynamical Cell Assembly Hypothesis - Theoretical Possibility of Spatio-temporal Coding in the Cortex. Neural Netw (1996) 1.16
Kinetic isotope effects on the rate-limiting step of heme oxygenase catalysis indicate concerted proton transfer/heme hydroxylation. J Am Chem Soc (2003) 1.13
T cell gene expression profiling identifies distinct subgroups of Japanese multiple sclerosis patients. J Neuroimmunol (2006) 1.13
High-level expression of cutaneous fatty acid-binding protein in prostatic carcinomas and its effect on tumorigenicity. Oncogene (2003) 1.13
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur J Med Genet (2009) 1.12
DNA display for in vitro selection of diverse peptide libraries. Nucleic Acids Res (2003) 1.12
Transcriptome analysis of Japanese pear (Pyrus pyrifolia Nakai) flower buds transitioning through endodormancy. Plant Cell Physiol (2013) 1.12
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. J Hum Genet (2011) 1.10
Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. Adv Neurol (2005) 1.10
Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. J Med Genet (2010) 1.09
Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy. Circ J (2006) 1.09
Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res (2010) 1.09
Miller-Dieker syndrome associated with tight filum terminale. Pediatr Neurol (2006) 1.08
Rasmussen syndrome: multifocal spread of inflammation suggested from MRI and PET findings. Epilepsia (2003) 1.08
The microenvironment in hepatocyte regeneration and function in rats with advanced cirrhosis. Hepatology (2012) 1.07
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics (2009) 1.06
Isolation, characterization, and cDNA sequence of a carotenoid binding protein from the silk gland of Bombyx mori larvae. J Biol Chem (2002) 1.06
Transgenic expression of dominant negative tuberin through a strong constitutive promoter results in a tissue-specific tuberous sclerosis phenotype in the skin and brain. J Biol Chem (2004) 1.04
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. Hum Mutat (2007) 1.03
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene (2013) 1.03
Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits. Am J Med Genet A (2008) 1.03
Cervical nerve root avulsion in brachial plexus injuries: magnetic resonance imaging classification and comparison with myelography and computerized tomography myelography. J Neurosurg (2002) 1.03
Extensive chromosome homoeology among Brassiceae species were revealed by comparative genetic mapping with high-density EST-based SNP markers in radish (Raphanus sativus L.). DNA Res (2011) 1.01
Increased CiFT abundance in the stem correlates with floral induction by low temperature in Satsuma mandarin (Citrus unshiu Marc.). J Exp Bot (2007) 1.01
Preparation of artificial metalloenzymes by insertion of chromium(III) Schiff base complexes into apomyoglobin mutants. Angew Chem Int Ed Engl (2003) 1.01
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet (2012) 1.01
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A (2011) 1.00
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions. Neuromuscul Disord (2013) 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
Bile acids enhance low density lipoprotein receptor gene expression via a MAPK cascade-mediated stabilization of mRNA. J Biol Chem (2002) 0.99
Diagnosis of ischemic small bowel disease by measurement of serum intestinal fatty acid-binding protein in patients with acute abdomen: a multicenter, observer-blinded validation study. J Gastroenterol (2011) 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
A carotenoid-binding protein (CBP) plays a crucial role in cocoon pigmentation of silkworm (Bombyx mori) larvae. FEBS Lett (2004) 0.99
Glucan-binding activity of silkworm 30-kDa apolipoprotein and its involvement in defense against fungal infection. Biosci Biotechnol Biochem (2005) 0.99
Expression of cutaneous fatty acid-binding protein (C-FABP) in prostate cancer: potential prognostic marker and target for tumourigenicity-suppression. Int J Oncol (2008) 0.99
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. Am J Med Genet A (2011) 0.98
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat (2013) 0.98
Assessment of left ventricular ejection fraction using long-axis systolic function is independent of image quality: a study of tissue Doppler imaging and m-mode echocardiography. Echocardiography (2006) 0.98
Role of dual leucine zipper-bearing kinase (DLK/MUK/ZPK) in axonal growth. Neurosci Res (2009) 0.98
63Cu NMR spectroscopy of copper(I) complexes with various tridentate ligands: CO as a useful 63Cu NMR probe for sharpening 63Cu NMR signals and analyzing the electronic donor effect of a ligand. Inorg Chem (2007) 0.97
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet (2010) 0.97
Eruptive molluscum contagiosums in a patient with rheumatoid arthritis and lung cancer. Rheumatol Int (2010) 0.96
CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia (2011) 0.96
Chaotic itinerancy as a mechanism of irregular changes between synchronization and desynchronization in a neural network. J Integr Neurosci (2004) 0.95
Ethylene-regulation of fruit softening and softening-related genes in peach. J Exp Bot (2006) 0.95
Endothelial adhesion molecules in glomerular lesions: association with their severity and diversity in lupus models. Kidney Int (2004) 0.95
Integration of molecular and classical linkage groups of the silkworm, Bombyx mori (n = 28). Genome (2005) 0.95
Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome. Congenit Anom (Kyoto) (2010) 0.95
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. Am J Med Genet A (2006) 0.95
Activity of neurons in ventrolateral respiratory groups during swallowing in decerebrate rats. Brain Dev (2003) 0.94
Hypoxia reduces the expression and anti-inflammatory effects of peroxisome proliferator-activated receptor-gamma in human proximal renal tubular cells. Nephrol Dial Transplant (2007) 0.94
Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients. Am J Med Genet (2002) 0.94
Tissue microarray of head and neck squamous carcinoma: validation of the methodology for the study of cutaneous fatty acid-binding protein, vascular endothelial growth factor, involucrin and Ki-67. Virchows Arch (2005) 0.94