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American Journal of Medical Genetics. Part A|May 27, 2010
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestationsTomoki Kosho, Noriko Miyake, Atsushi Hatamochi, et al.American Journal of Medical Genetics. Part A|February 19, 2015
Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)Megumi Yoshimura-Furuhata, Akira Nishimura-Tadaki, Yoshiro Amano, et al.European Journal of Human Genetics : EJHG|September 16, 2004
CD40 ligand gene and Kawasaki diseaseYoshihiro Onouchi, Sakura Onoue, Mayumi Tamari, et al.American Journal of Medical Genetics. Part A|April 22, 2021
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosisHiroaki Hanafusa, Yoshihiko Hidaka, Tomomi Yamaguchi, et al.Human Mutation|June 10, 2010
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndromeNoriko Miyake, Tomoki Kosho, Shuji Mizumoto, et al.Genetics in Medicine Open|December 13, 2024
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndromeTomoko Kawai, Shiori Kinoshita, Yuka Takayama, et al.American Journal of Medical Genetics. Part A|October 3, 2022
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing systemTomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, et al.American Journal of Medical Genetics. Part A|May 3, 2013
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literatureTomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, et al.Nature Genetics|December 18, 2007
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysmsYoshihiro Onouchi, Tomohiko Gunji, Jane C Burns, et al.Nature Genetics|March 20, 2012
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromeYoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, et al.Pageof 7