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Intractable & Rare Diseases Research|September 17, 2019
Advantages of ddPCR in detection of PLP1 duplicationsTaichi Imaizumi, Keiko Yamamoto-Shimojima, Toshiyuki YamamotoHuman Genome Variation|June 9, 2020
Novel LAMA2 variants identified in a patient with white matter abnormalitiesKeiko Yamamoto-Shimojima, Hiroaki Ono, Taichi Imaizumi, et al.Congenital Anomalies|January 27, 2019
Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reactionTaichi Imaizumi, Keiko Yamamoto-Shimojima, Hitoshi Yamamoto, et al.Congenital Anomalies|November 27, 2020
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivationKeiko Yamamoto-Shimojima, Mitsujiro Osawa, Megumu K Saito, et al.Journal of Human Genetics|May 2, 2020
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencingTaichi Imaizumi, Keiko Yamamoto-Shimojima, Tomoe Yanagishita, et al.Intractable & Rare Diseases Research|December 19, 2018
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorderTaichi Imaizumi, Akira Kumakura, Keiko Yamamoto-Shimojima, et al.Brain & Development|November 15, 2018
Three Japanese patients with 3p13 microdeletions involving FOXP1Keiko Yamamoto-Shimojima, Nobuhiko Okamoto, Wataru Matsumura, et al.American Journal of Medical Genetics. Part A|December 11, 2019
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutationKeiko Yamamoto-Shimojima, Taichi Imaizumi, Hiroyuki Akagawa, et al.Human Genome Variation|April 2, 2021
Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher diseaseKeiko Yamamoto-Shimojima, Hiroyuki Akagawa, Kumiko Yanagi, et al.Human Mutation|September 9, 2020
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like patternTomoe Yanagishita, Taichi Imaizumi, Keiko Yamamoto-Shimojima, et al.Pageof 3