PubRank

Takashi Shiihara

Author PubWeight™ 16.25‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 2003 1.38
2 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet 2013 1.27
3 Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med 2005 1.25
4 Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. Pediatr Nephrol 2008 1.02
5 Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome. Clin Dysmorphol 2011 0.92
6 Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. Am J Med Genet A 2003 0.89
7 Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet 2003 0.88
8 Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. Am J Med Genet A 2010 0.87
9 Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. Am J Med Genet A 2004 0.86
10 Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. Brain Dev 2010 0.83
11 Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy. Brain Dev 2010 0.82
12 ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus. Neurology 2013 0.79
13 A patient with early onset Huntington disease and severe cerebellar atrophy. Am J Med Genet A 2009 0.79
14 Correspondence: A further case of opsoclonus-myoclonus syndrome associated with Mycoplasma pneumoniae infection. Eur J Pediatr 2009 0.78
15 Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. Brain Dev 2009 0.77
16 A case of anti-GA1 antibody-positive Fisher syndrome with elevated tau protein in cerebrospinal fluid. Brain Dev 2011 0.76
17 Clinically mild encephalitis/encephalopathy with a reversible splenial lesion. Neurology 2005 0.75
18 Another case of respiratory syncytial virus-related limbic encephalitis. Neuroradiology 2014 0.75
19 [Evaluation of surgical treatment for intractable aspiration in neurologically impaired patients: our experience with 20 patients]. No To Hattatsu 2015 0.75
20 Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy. Pediatr Int 2012 0.75