Niigata University, Graduate School of Medical and Dental Science

Top Publications

Top Publications Authored or Co-Authored in "Niigata University, Graduate School of Medical and Dental Science"

• Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

  Nature Genetics, Volume 45, No. 9, Year 2013, Citations 480
• Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

  Nature Communications, Volume 8, Article 15539, Year 2017, Citations 213
• A novel disease gene for Brugada syndrome: Sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5

  Circulation: Arrhythmia and Electrophysiology, Volume 5, No. 6, Year 2012, Citations 94
• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

  Journal of Human Genetics, Volume 64, No. 12, Year 2019, Citations 79
• BioHackathon 2015: Semantics of data for life sciences and reproducible research

  F1000Research, Volume 9, Article 136, Year 2020, Citations 77