Jialan Ma

机构：Broad Institute

发表论文 9 篇 · 总被引 308 次 · h-index 6

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• Beyond the exome: What’s next in diagnostic testing for Mendelian conditions (2023 · The American Journal of Human Genetics · 被引 125)
• Transcriptome-wide outlier approach identifies individuals with minor spliceopathies (2025 · The American Journal of Human Genetics · 被引 17)
• GREGoR: accelerating genomics for rare diseases (2025 · Nature · 被引 15)
• Transcriptome-wide outlier approach identifies individuals with minor spliceopathies (2025 · medRxiv · 被引 10)
• De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders (2024 · medRxiv · 被引 10)