Concepedia
Statistics
Publications
7
Citations
207
H-Index
Active since
2020
Affiliations
Yokohama City University(Current)
National Institute of Advanced Industrial Science and Technology
The Open University of Japan
The University of Tokyo
Showa University
Sachiko Ohori is an author at Yokohama City University specializing in medicine, neurology, and neuroscience.
Top concepts
MedicineNeurologyNeuroscienceNeuropathologyNeurogeneticsSocial SciencesNeurodevelopmental DisordersGeneticsGenomicsPsychiatry
Publications per year
2020–2023
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi et al. · Genome Medicine · 2022 · 52 citations · Full text
A pipeline for complete characterization of complex germline rearrangements from long DNA reads
Satomi Mitsuhashi, Sachiko Ohori, Kazutaka Katoh et al. · Genome Medicine · 2020 · 39 citations · Full text
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama et al. · Human Mutation · 2020 · 34 citations
Efficient Detection, Exome Sequencing, Genetics +19
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Ken Saida, Reza Maroofian, Toru Sengoku et al. · Genetics in Medicine · 2022 · 34 citations
Neurodegenerative Diseases, Psychiatry, Homozygous Slc18a2 Variants +8
A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly
Sachiko Ohori, Satomi Mitsuhashi, Revital Ben-Haim et al. · Journal of Human Genetics · 2020 · 20 citations
Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +11
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