Hiromi Aoi

机构：Juntendo University · ORCID：0000-0001-9306-2830

发表论文 21 篇 · 总被引 391 次 · h-index 9

代表论文

• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients (2019 · Journal of Human Genetics · 被引 74)
• Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy (2019 · Nature Communications · 被引 72)
• Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (2019 · Journal of Human Genetics · 被引 59)
• An association of Bcl‐2 phosphorylation and Bax localization with their functions after hyperthermia and paclitaxel treatment (2002 · International Journal of Cancer · 被引 51)
• Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses (2020 · Human Mutation · 被引 35)
• Whole exome sequencing of fetal structural anomalies detected by ultrasonography (2020 · Journal of Human Genetics · 被引 28)