Concepedia

Hirofumi Ohashi

HO

Statistics

Publications

139

Citations

10.5K

H-Index

52

Active since

1990

Affiliations

Saitama Children's Medical Center(Current)

Nagasaki University

Shinshu University

Kanagawa Children's Medical Center

Osaka International Cancer Institute

Hirofumi Ohashi is an author at Saitama Children's Medical Center specializing in genetics, molecular genetics, and life sciences.

Publications per year

1990–2024

139

Publications

139

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame et al. · Nature Genetics · 2005 · 674 citations

, , +14

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 656 citations

, , +3

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

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 599 citations

, , +11

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 522 citations

, , +7

Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

Sabrina Giglio, Karl W. Broman, Naomichi Matsumoto et al. · The American Journal of Human Genetics · 2001 · 398 citations · Full text

, , +16

1–5 of 139