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Human Genetics|October 28, 2003
Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangementsBlake C Ballif, Keiko Wakui, Marzena Gajecka, et al.
Human Molecular Genetics|January 11, 2005
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeatsNaohiro Kurotaki, Pawel Stankiewicz, Keiko Wakui, et al.
Autism Research and Treatment|August 31, 2012
Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum DisorderKumiko Yanagi, Tadashi Kaname, Keiko Wakui, et al.
Journal of Human Genetics|February 25, 2006
Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalitiesShawkat Haider, Rie Matsumoto, Nobuyuki Kurosawa, et al.
Genetic Testing|November 4, 2008
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2Hirofumi Kojima, Takahito Wada, Hiroshi Seki, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|July 18, 2012
Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridizationRie Kawamura, Hideyuki Tanabe, Takahito Wada, et al.
Journal of Human Genetics|July 6, 2007
Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in JapanKunihiro Yoshida, Takahito Wada, Akihiro Sakurai, et al.
Molecular Syndromology|October 30, 2023
Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 GenesNoriko Kubota, Ryojun Takeda, Jun Kobayashi, et al.
American Journal of Medical Genetics. Part A|October 21, 2015
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literatureKyoko Takano, Naoko Shiba, Keiko Wakui, et al.
European Journal of Medical Genetics|July 17, 2017
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegenerationKyoko Takano, Kazuya Goto, Mitsuo Motobayashi, et al.
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