Author

Yukitoshi Takahashi

National Epilepsy CenterORCID 0000-0002-1922-8967Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Organism:mouse· 1 Assay:proteomics· 1

Frequent Co-Authors

Chelsea BarrowsiD· 2 shared David D. GondaiD· 2 shared H. Westley PhillipsiD· 2 shared Hélio Rubens MachadoiD· 2 shared Joseph G. GleesoniD· 2 shared Keng Ioi VongiD· 2 shared Adrian Walton MooreiD· 1 shared Ahmed I. MarwaniD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Chelsea BarrowsORCID

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Author profile →

3 papers

Recent·Most cited

The contribution of de novo coding mutations to meningomyelocele

Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave Ojeda, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo M. Patel, , Joseph G. Gleeson

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

Nature · Mar 26, 2025Peer-reviewedGenetic & Genomic Medicine

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, , Eduardo Maury

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

Nature Genetics · Jan 12, 2023Peer-reviewedGenetics

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

Toshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo, Caroline Delandre, Yun Jin Pai, Hiroyuki Miyamoto, Matthieu Raveau, Atsushi Shimohata, Iori Ohmori, Shin‐ichiro Hamano, Kazuhiro Haginoya, Mitsugu Uematsu, Yukitoshi Takahashi, Masafumi Morimoto, Shinji Fujimoto, , Kazuhiro Yamakawa

This study identifies CUX2 and CASP variants in temporal lobe epilepsy patients and shows they increase seizure susceptibility and excitatory synaptic transmission.

Scientific Reports · May 17, 2022Peer-reviewedNeuroscience