Miyake, Noriko

Top Publications

Top Publications Authored or Co-Authored by "Miyake, Noriko"

• SMOC1 is essential for ocular and limb development in humans and mice

  American Journal of Human Genetics, Volume 88, No. 1, Year 2011, Citations 104
• Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 87
• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

  Journal of Human Genetics, Volume 64, No. 12, Year 2019, Citations 79
• Expansion of the CHN1 strabismus phenotype

  Investigative Ophthalmology and Visual Science, Volume 52, No. 9, Year 2011, Citations 45
• Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

  Genetics in Medicine, Volume 23, No. 7, Year 2021, Citations 44