Gen Nishimura

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire et al. · American Journal of Medical Genetics Part A · 2019 · 592 citations

Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall et al. · American Journal of Medical Genetics Part A · 2015 · 556 citations

Osteopathy, Genetics, Genetic Epidemiology +20

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert Mortier et al. · American Journal of Medical Genetics Part A · 2023 · 318 citations · Full text

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 et al. · Nature Genetics · 2008 · 288 citations

Developmental Biology, Genetic Disorder, Genetics +7

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Akira Kinoshita, Takashi Saito, Hiroaki Tomita et al. · Nature Genetics · 2000 · 245 citations

Translational Biology, Genetic Disorder, Receptor Tyrosine Kinase +5