Eriko Koshimizu

29PUBLICATIONS
77CO-AUTHORS
Systems physiologyGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Neurosciences not elsewhere classifiedGenome structure and regulation
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (29)

|Aug 03, 2026
A Case Report of Pitt-Hopkins Syndrome With Seasonal Exacerbation of Respiratory Dysregulation.

|Jul 16, 2026
Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

|Mar 14, 2026
Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.

Jun Kido, Hiroe Ueno, Yohei Misumi

|Feb 05, 2026
TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.

Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake

|Dec 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencing.

Yasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto

|Dec 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno

Pageof 5

Frequent Collaborators

27 joint publications

Satoko Miyatake

27 joint publications

Naomichi Matsumoto

23 joint publications

Yuri Uchiyama

22 joint publications

Naomi Tsuchida