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American Journal of Medical Genetics. Part A|May 28, 2021
HECW2-related disorder in four Japanese patientsTomoe Yanagishita, Takuya Hirade, Keiko Shimojima Yamamoto, et al.
Brain & Development|April 10, 2012
A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastomaAkihisa Okumura, Tsubasa Lee, Mitsuru Ikeno, et al.
Brain & Development|February 7, 2026
Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in JapanHironao Shirai, Yoshiki Oitani, Eriko Nishi, et al.
Genesis (New York, N.Y. : 2000)|February 11, 2010
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegalyYuta Komoike, Katsunori Fujii, Akira Nishimura, et al.
Brain & Development|March 31, 2009
Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplicationsKeiko Shimojima, Takehiko Inoue, Ai Hoshino, et al.
Epilepsia|July 21, 2011
CDKL5 alterations lead to early epileptic encephalopathy in both gendersJao-Shwann Liang, Keiko Shimojima, Rumiko Takayama, et al.
Seizure|June 3, 2019
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesiaAkihisa Okumura, Keiko Shimojima, Hirokazu Kurahashi, et al.
Plos One|March 21, 2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresToshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, et al.
American Journal of Medical Genetics. Part A|January 20, 2016
Detailed analysis of 26 cases of 1q partial duplication/triplication syndromeSatoshi Watanabe, Kenji Shimizu, Hirofumi Ohashi, et al.
European Journal of Medical Genetics|February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORAToshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
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