PubRank

Yoshinori Tsurusaki

Author PubWeight™ 59.37‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013 4.71
2 Growth inhibition of cultured human liver carcinoma cells by Ki-energy (life-energy): scientific evidence for Ki-effects on cancer cells. Evid Based Complement Alternat Med 2005 2.60
3 Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat 2010 1.83
4 Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 2013 1.46
5 Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia 2014 1.38
6 KDM6A point mutations cause Kabuki syndrome. Hum Mutat 2012 1.35
7 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 2013 1.35
8 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol 2012 1.34
9 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics 2013 1.32
10 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet 2013 1.27
11 Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 2011 1.24
12 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 2013 1.19
13 MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A 2013 1.19
14 De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. Am J Hum Genet 2011 1.17
15 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. J Hum Genet 2012 1.16
16 Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann Neurol 2012 1.11
17 Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet 2013 1.11
18 Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet 2011 1.10
19 Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am J Med Genet A 2011 1.07
20 Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat 2013 1.06
21 Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. Intern Med 2013 1.03
22 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
23 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat 2013 0.98
24 SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet 2010 0.97
25 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia 2013 0.96
26 CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia 2012 0.94
27 Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. J Hum Genet 2013 0.94
28 Potential role of regucalcin as a specific biochemical marker of chronic liver injury with carbon tetrachloride administration in rats. Mol Cell Biochem 2002 0.90
29 De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy. Am J Med Genet A 2011 0.90
30 PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. Neurogenetics 2013 0.89
31 A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. J Hum Genet 2012 0.88
32 PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology 2014 0.88
33 A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter. Am J Med Genet A 2013 0.86
34 Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder. PLoS One 2013 0.86
35 Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure. J Hum Genet 2010 0.86
36 Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. Am J Med Genet A 2013 0.86
37 PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. Epilepsia 2014 0.85
38 A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay. Am J Med Genet A 2014 0.85
39 A hemizygous GYG2 mutation and Leigh syndrome: a possible link? Hum Genet 2013 0.85
40 Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. Am J Med Genet A 2013 0.84
41 Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenetics 2014 0.84
42 A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. Brain Dev 2011 0.84
43 A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty. Am J Med Genet A 2011 0.83
44 Enhancement of albumin expression in bone tissues with healing rat fractures. J Cell Biochem 2003 0.82
45 Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing. Mol Vis 2013 0.82
46 Role of endogenous regucalcin in transgenic rats: suppression of kidney cortex cytosolic protein phosphatase activity and enhancement of heart muscle microsomal Ca2+-ATPase activity. J Cell Biochem 2002 0.81
47 Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. Am J Med Genet A 2014 0.81
48 Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing. Hum Genet 2011 0.80
49 De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation. Am J Med Genet A 2010 0.80
50 Numerous BAF complex genes are mutated in Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet 2014 0.79
51 Role of endogenous regucalcin in bone metabolism: bone loss is induced in regucalcin transgenic rats. Int J Mol Med 2002 0.79
52 De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis. J Hum Genet 2011 0.78
53 A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. Am J Med Genet A 2014 0.77
54 Suppressive effect of regucalcin on protein phosphatase activity in the heart cytosol of normal and regucalcin transgenic rats. Int J Mol Med 2004 0.76
55 Suppressive effect of endogenous regucalcin on nitric oxide synthase activity in cloned rat hepatoma H4-II-E cells overexpressing regucalcin. J Cell Biochem 2003 0.76
56 Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. Brain Tumor Pathol 2015 0.75
57 Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE. Pediatr Int 2015 0.75
58 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet 2015 0.75
59 Suppressive role of endogenous regucalcin in the enhancement of nitric oxide synthase activity in liver cytosol of normal and regucalcin transgenic rats. J Cell Biochem 2003 0.75
60 A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. Mov Disord 2013 0.75
61 Decrease in regucalcin level and enhancement of protein tyrosine phosphatase activity in rat brain microsomes with increasing age. Int J Mol Med 2003 0.75
62 Co-occurrence of 22q11 deletion syndrome and HDR syndrome. Am J Med Genet A 2013 0.75