Shoji Ichikawa
Ambry Genetics (United States)(US)
Publications by Year
Research Areas
Parathyroid Disorders and Treatments, Medical Imaging and Pathology Studies, Genetic Syndromes and Imprinting, Heterotopic Ossification and Related Conditions, Bone health and osteoporosis research
Most-Cited Works
- → Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects(2010)488 cited
- → A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis(2007)474 cited
- → Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation(2005)320 cited
- → Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis(2014)169 cited
- → A Novel GALNT3 Mutation in a Pseudoautosomal Dominant Form of Tumoral Calcinosis: Evidence That the Disorder Is Autosomal Recessive(2005)153 cited
- → Ablation of the Galnt3 Gene Leads to Low-Circulating Intact Fibroblast Growth Factor 23 (Fgf23) Concentrations and Hyperphosphatemia Despite Increased Fgf23 Expression(2009)148 cited
- → Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications(2021)140 cited
- → Intronic Deletions in theSLC34A3Gene Cause Hereditary Hypophosphatemic Rickets with Hypercalciuria(2006)135 cited
- → HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond(2018)135 cited
- → Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations(2010)123 cited