Hongzheng Dai

机构：Baylor College of Medicine, Baylor Genetics · ORCID：0000-0002-0103-876X

发表论文 157 篇 · 总被引 3646 次 · h-index 32

代表论文

• Neurodevelopmental Disorder Caused by Deletion of CHASERR , a lncRNA Gene (2024 · New England Journal of Medicine · 被引 39)
• Clinical validation of RNA sequencing for Mendelian disorder diagnostics (2025 · The American Journal of Human Genetics · 被引 25)
• Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps (2024 · Genome Research · 被引 13)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability (2024 · American Journal of Medical Genetics Part A · 被引 7)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)