Yoko Narumi

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 593 citations

Mendelian Disorder, Genetic Disorder, Germline Kras +4

Molecular and clinical analysis of<i>RAF1</i>in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori et al. · Human Mutation · 2010 · 122 citations

Genetics, Pathology, Disease Gene Identification +16

Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

Yoko Narumi, Yoko Aoki, Tetsuya Niihori et al. · American Journal of Medical Genetics Part A · 2007 · 102 citations

Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene

Yoshio Makita, Yoko Narumi, Makoto Yoshida et al. · Journal of Pediatric Hematology/Oncology · 2007 · 60 citations · Full text

Engineering, Mixed-phenotype Acute Leukemia, Genetics +16

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype–phenotype correlation

Fumiaki Kamada, Shigeo Kure, Takayuki Kudo et al. · Journal of Human Genetics · 2006 · 54 citations · Full text

Genetic Disorder, Genetics, Genotype–phenotype Correlation +7