Author

Nora Oyama

Institutions: Norcliffe Foundation, Seattle Children's Research Institute

Observed institutions: Norcliffe Foundation, Seattle Children's Research Institute

ORCID: 0000-0002-1324-611X

Observed ORCID: 0000-0002-1324-611X

OpenAlex ID: A5014783440

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

2021 · Filomena Pirozzi, Matthew Berkseth, et al. · Brain · 56

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis

2022 · Nora Oyama, Pieter Vaneynde, et al. · Journal of Medical Genetics · 32

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

2025 · Ghayda M. Mirzaa, Keqin Yan, et al. · Nature Communications · 11

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia

2023 · Emily Shelkowitz, Nicholas V. Stence, et al. · Pediatric Neurology · 8

Works count: 4

Citation count: 107

H-index: 4

I10-index: 3