Miho Ishida

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

Veronica A. Kinsler, Anna Thomas, Miho Ishida et al. · Journal of Investigative Dermatology · 2013 · 343 citations · Full text

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Sérgio B. Sousa, Dagan Jenkins, Estelle Chanudet et al. · Nature Genetics · 2013 · 106 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

Elisabeth Mangold, Anne C. Böhmer, Nina Ishorst et al. · The American Journal of Human Genetics · 2016 · 102 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +10

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Anna Thomas, Hywel Williams, Núria Setó‐Salvia et al. · The American Journal of Human Genetics · 2014 · 100 citations · Full text

Chondroitin 4-O-Sulfotransferase-1 Regulates E Disaccharide Expression of Chondroitin Sulfate Required for Herpes Simplex Virus Infectivity

Toru Uyama, Miho Ishida, Tomomi Izumikawa et al. · Journal of Biological Chemistry · 2006 · 96 citations · Full text

Synthetic Virology, Glycobiology, Immunology +16