Matsumoto, Naomichi

Top Publications

Top Publications Authored or Co-Authored by "Matsumoto, Naomichi"

• 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
• Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 59
• Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

  Nature Communications, Volume 13, No. 1, Article 6664, Year 2022, Citations 48
• Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

  American Journal of Human Genetics, Volume 105, No. 2, Year 2019, Citations 45