PubRank

Hiroshi Yoshihashi

Author PubWeight™ 13.81‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet 2010 1.49
2 Complete mutation analysis panel of the 39 human HOX genes. Teratology 2002 1.47
3 Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 2006 1.45
4 Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenit Anom (Kyoto) 2004 1.12
5 Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome. Clin Dysmorphol 2011 0.92
6 Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. Am J Med Genet A 2012 0.91
7 1p36 deletion syndrome associated with Prader-Willi-like phenotype. Pediatr Int 2010 0.87
8 Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography. Genet Test 2007 0.85
9 Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis. Teratology 2002 0.85
10 Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature. Congenit Anom (Kyoto) 2009 0.83
11 Congenital corneal staphyloma as a complication of Kabuki syndrome. Am J Med Genet A 2012 0.81
12 Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children's hospital. Eur J Pediatr 2011 0.81
13 A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome. Am J Med Genet A 2015 0.77
14 The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints. Am J Med Genet A 2012 0.77
15 Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome. Congenit Anom (Kyoto) 2014 0.75
16 Vesiculopustular eruption in neonate with trisomy 21 and transient myeloproliferative disorder. J Pediatr 2012 0.75