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Human Genome Variation|August 7, 2023
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive featuresKeiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto
Methods in Molecular Biology (Clifton, N.J.)|April 17, 2024
Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent DesignTakeaki Tamura, Taichi Imaizumi, Keiko Shimojima Yamamoto, et al.
Brain & Development|July 7, 2024
Glass syndrome derived from chromosomal breakage downstream region of SATB2Keiko Shimojima Yamamoto, Rina Shimomura, Hiromichi Shoji, et al.
Human Genome Variation|May 15, 2024
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease traitKeiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, et al.
Human Genome Variation|August 16, 2024
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXXKeiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, et al.
Internal Medicine (Tokyo, Japan)|June 1, 2022
A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's SyndromeYuma Nato, Yuki Kageyama, Kazutaka Suzuki, et al.
Journal of Human Genetics|August 9, 2024
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizuresTakeaki Tamura, Keiko Shimojima Yamamoto, Jun Tohyama, et al.
The Tohoku Journal of Experimental Medicine|September 16, 2021
Enzymatic Changes in Red Blood Cells of Diamond-Blackfan AnemiaTaiju Utsugisawa, Toshitaka Uchiyama, Tsutomu Toki, et al.
American Journal of Medical Genetics. Part A|March 14, 2023
Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2CTakeaki Tamura, Keiko Shimojima Yamamoto, Taichi Imaizumi, et al.
The American Journal of Case Reports|April 13, 2023
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-UpSatoshi Ekuni, Kei Hirayama, Miwako Nagasaka, et al.
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