Get started
Author

Tsutomu Ogata

ORCID: 0000-0001-7178-9991
Observed ORCID: 0000-0001-7178-9991
OpenAlex ID: A5121958336
Identification of 5’ untranslated region variants in genes involved in neurodevelopmental disorders
2026 · Taiju Hayashi, Sachiko Miyamoto, et al. · Journal of Human Genetics · 6
PDF
Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site
2026 · Hayate Masubuchi, Tatsuki Urakawa, et al. · Clinical Epigenetics · 1
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings
2026 · Maiko Ikeda, Chikahiko Numakura, et al. · Journal of Human Genetics · 1
A novel CACNA1S variant associated with diltiazem-related worsening of hypokalemic periodic paralysis: a case report
2026 · Hidenori Sugiura, Kazuki Watanabe, et al. · Neurological Sciences
Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases
2026 · Takuya Hiraide, Kenji Shimizu, et al. · Brain and Development
Health‐Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader–Willi Syndrome in Japan
2026 · Ayako Konishi, Makiko Tachibana, et al. · American Journal of Medical Genetics Part A
Works count: 6
Citation count: 8
H-index: 1
I10-index:
Year
Topic
Type