Vijay S Ganesh

机构：Broad Institute, Brigham and Women's Hospital, Harvard University, Mass General Brigham · ORCID：0000-0002-8709-9351

发表论文 17 篇 · 总被引 190 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)
• Transcriptome-wide outlier approach identifies individuals with minor spliceopathies (2025 · The American Journal of Human Genetics · 被引 17)
• 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)
• Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets (2024 · Genetics in Medicine · 被引 7)
• Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA (2024 · medRxiv · 被引 6)