Hirofumi Ohashi

Overview

Best Publications

• Germline mutations in HRAS proto-oncogene cause Costello syndrome

  Yoko Aoki;Tetsuya Niihori;Hiroshi Kawame;Kenji Kurosawa

  742
  Citations

• Haploinsufficiency of NSD1 causes Sotos syndrome

  Naohiro Kurotaki;Kiyoshi Imaizumi;Naoki Harada;Mitsuo Masuno

  673
  Citations

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

  Tetsuya Niihori;Yoko Aoki;Yoko Narumi;Giovanni Neri

  671
  Citations

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

  Yoshinori Tsurusaki;Nobuhiko Okamoto;Hirofumi Ohashi;Tomoki Kosho

  542
  Citations

• An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.

  Izuho Hatada;Hirofumi Ohashi;Yoshimitsu Fukushima;Yasuhiko Kaneko

  512
  Citations

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

  Sabrina Giglio;Karl W. Broman;Naomichi Matsumoto;Vladimiro Calvari

  414
  Citations

• Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

  Yoko Aoki;Tetsuya Niihori;Toshihiro Banjo;Nobuhiko Okamoto

  348
  Citations

• Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

  Masayo Kagami;Yoichi Sekita;Gen Nishimura;Masahito Irie

  335
  Citations

• Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

  Ute Schell;Andreas Hehr;George J. Feldman;Nathaniel H. Robin

  319
  Citations

• KDM6A point mutations cause Kabuki syndrome.

  Noriko Miyake;Seiji Mizuno;Nobuhiko Okamoto;Hirofumi Ohashi

  242
  Citations

• Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

  Mark C. Hannibal;Kati J. Buckingham;Sarah B. Ng;Jeffrey E. Ming

  235
  Citations

• Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome

  Tomoki Kosho;Koji Muroya;Toshiro Nagai;Masatoshi Fujimoto

  234
  Citations

• Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein–Taybi syndrome

  Takashi Murata;Riki Kurokawa;Anna Krones;Ken Tatsumi

  227
  Citations

• The phenotypic spectrum of COL2A1 mutations.

  Gen Nishimura;Nobuhiko Haga;Hiroshi Kitoh;Yoko Tanaka

  213
  Citations

• MLL2 and KDM6A mutations in patients with Kabuki syndrome.

  Noriko Miyake;Eriko Koshimizu;Nobuhiko Okamoto;Seiji Mizuno

  210
  Citations

• Genomic Imprinting of Human p57KIP2 and Its Reduced Expression in Wilms' Tumors

  Izuho Hatada;Johji Inazawa;Tatsuo Abe;Masahiro Nakayama

  195
  Citations

• Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

  Noriko Miyake;Tomoki Kosho;Shuji Mizumoto;Tatsuya Furuichi

  174
  Citations

• Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion

  Naohiro Kurotaki;Naoki Harada;Osamu Shimokawa;Noriko Miyake

  163
  Citations

• Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

  Tetsuya Niihori;Yoko Aoki;Hirofumi Ohashi;Kenji Kurosawa

  160
  Citations

• De novo SOX11 mutations cause Coffin–Siris syndrome

  Yoshinori Tsurusaki;Eriko Koshimizu;Hirofumi Ohashi;Shubha Phadke

  149
  Citations