Yoshiko Murakami

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Peter Krawitz, Michal R. Schweiger, Christian Rödelsperger et al. · Nature Genetics · 2010 · 298 citations · Full text

Bioinformatics, Developmental Biology, Mendelian Disorder +11

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

H. Christian Martin, Grace Kim, A. T. Pagnamenta et al. · Human Molecular Genetics · 2014 · 255 citations · Full text

Engineering, Genetics, Disease Gene Identification +21

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

António Almeida, Yoshiko Murakami, D. Mark Layton et al. · Nature Medicine · 2006 · 222 citations

Developmental Biology, Molecular Physiology, Genetic Disorder +8

Aberrations of the p53 tumor suppressor gene in human non-small cell carcinomas of the lung

Yui Kishimoto, Yoshiko Murakami, Mie Shiraishi et al. · Lung Cancer · 1993 · 180 citations

Tumor Biology, Oncology, Medicine +9

Detection of aberrations of the p53 alleles and the gene transcript in human tumor cell lines by single-strand conformation polymorphism analysis.

Yoshiko Murakami, Kenshi Hayashi, Tetsuji Sekiya · PubMed · 1991 · 163 citations

Cancer Pathology, Genetics, Human Polymorphism +17