Hirohito Shima

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations

Hirohito Shima, Katrin Koehler, Yumiko Nomura et al. · Journal of Medical Genetics · 2017 · 54 citations

A novel <i>SAMD9</i> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

Lauren Jeffries, Hirohito Shima, Weizhen Ji et al. · American Journal of Medical Genetics Part A · 2017 · 34 citations

Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype

Jay F. Sarthy, Ji Zha, Daria V. Babushok et al. · Blood Advances · 2018 · 34 citations · Full text

Cell Therapy, Transplantation, Marrow Transplantation +14

Prevalence of germline <i>GATA2</i> and <i>SAMD9/9L</i> variants in paediatric haematological disorders with monosomy 7

Masanori Yoshida, Kanako Tanase‐Nakao, Hirohito Shima et al. · British Journal of Haematology · 2020 · 32 citations · Full text

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

Hirohito Shima, Mie Hayashi, Takashi Tachibana et al. · PLoS ONE · 2018 · 25 citations · Full text