Gen Nishimura

Research interests

Publications

• Nosology of genetic skeletal disorders: 2023 revision

  American Journal of Medical Genetics Part A · 2023 · https://doi.org/10.1002/ajmg.a.63132

• Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

  The American Journal of Human Genetics · 2019 · 10.1016/j.ajhg.2019.03.004

• Nosology and classification of genetic skeletal disorders: 2019 revision

  American Journal of Medical Genetics Part A · 2019 · https://doi.org/10.1002/ajmg.a.61366

• Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

  Nature Medicine · 2019 · 10.1038/s41591-019-0353-2

• Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

  Human Mutation · 2017 · 10.1002/humu.23200

• Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

  New England Journal of Medicine · 2016 · 10.1056/nejmoa1509342

• NANS-mediated synthesis of sialic acid is required for brain and skeletal development

  Nature Genetics · 2016 · https://doi.org/10.1038/ng.3578

• Nosology and classification of genetic skeletal disorders: 2015 revision

  American Journal of Medical Genetics Part A · 2015 · https://doi.org/10.1002/ajmg.a.37365

• PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

  The American Journal of Human Genetics · 2014 · https://doi.org/10.1016/j.ajhg.2014.05.007

• Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

  The American Journal of Human Genetics · 2013 · 10.1016/j.ajhg.2013.04.003

• FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

  The American Journal of Human Genetics · 2013 · 10.1016/j.ajhg.2013.04.020

• Nosology and classification of genetic skeletal disorders: 2010 revision

  American Journal of Medical Genetics Part A · 2011 · https://doi.org/10.1002/ajmg.a.33909

• Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

  Human Genetics · 2011 · https://doi.org/10.1007/s00439-011-0947-3

• Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

  Nature Genetics · 2011 · https://doi.org/10.1038/ng.749

• Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

  Human Mutation · 2011 · 10.1002/humu.21611

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

  Human Mutation · 2010 · 10.1002/humu.21300

• Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

  The Journal of Clinical Endocrinology & Metabolism · 2009 · 10.1210/jc.2008-2816

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

  Nature Genetics · 2008 · https://doi.org/10.1038/ng.2007.56

• A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family

  Human Genetics · 2007 · 10.1007/s00439-007-0354-y

• Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

  Nature Medicine · 2007 · 10.1038/nm1655

• Segmental and full paternal isodisomy for chromosome 14 in three patients: Narrowing the critical region and implication for the clinical features

  American Journal of Medical Genetics Part A · 2005 · 10.1002/ajmg.a.30941

• Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients

  The Journal of Clinical Endocrinology & Metabolism · 2005 · 10.1210/jc.2004-0810

• The phenotypic spectrum ofCOL2A1mutations

  Human Mutation · 2005 · 10.1002/humu.20179

• SHOX haploinsufficiency and overdosage: impact of gonadal function status

  Journal of Medical Genetics · 2001 · 10.1136/jmg.38.1.1

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

  Nature Genetics · 2000 · https://doi.org/10.1038/79128

• Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome

  The Journal of Clinical Endocrinology & Metabolism · 1999 · https://doi.org/10.1210/jcem.84.12.6289

Current projects

No projects listed.