Nishimura, Gen

Top Publications

Top Publications Authored or Co-Authored by "Nishimura, Gen"

• Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

  American Journal of Medical Genetics, Part A, Volume 152, No. 6, Year 2010, Citations 74
• Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations

  PLoS ONE, Volume 11, No. 3, Article e0150555, Year 2016, Citations 38
• Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

  Journal of Experimental Medicine, Volume 217, No. 3, Article e20191306, Year 2020, Citations 38
• High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

  Journal of Human Genetics, Volume 66, No. 10, Year 2021, Citations 33
• Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

  American Journal of Human Genetics, Volume 89, No. 6, Year 2011, Citations 32