The Tohoku Medical Megabank Project: Design and MissionShinichi Kuriyama, Seiichiro Kobayashi, Nobuo Yaegashi et al.|Journal of Epidemiology|2016Cited by 386
Kabuki syndrome: international consensus diagnostic criteriaMargaret P Adam, Norio Niikawa, Siddharth Banka et al.|Journal of Medical Genetics|2018Cited by 251
Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspectiveShinichi Kuriyama, S. Koshiba, Hirohito Metoki et al.|International Journal of Epidemiology|2019Cited by 201
Phenotypic spectrum of CHARGE syndrome with CHD7 mutationsMichihiko Aramaki, Kenjiro Kosaki, Toru Udaka et al.|The Journal of Pediatrics|2006Cited by 168
Various types of <i>LRP5</i> mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarraySatoshi Narumi, Tomonobu Hasegawa, Chikahiko Numakura et al.|American Journal of Medical Genetics Part A|2009Cited by 38