Yumiko Nomura

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations

M. Schuelke, T. Ogata, Ramona Jühlen, 2017, Journal of Medical Genetics.

Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis

T. Kiyono, Sachiko Kimura, A. Matsuura, 2016, Scientific Reports.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.