Alan H. Beggs

机构：Broad Institute, Boston Children's Hospital, Harvard University, Harvard University Press, Boston Children's Museum, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Manton Center for Orphan Disease Research · ORCID：0000-0001-8818-0568

发表论文 971 篇 · 总被引 37491 次 · h-index 99

代表论文

• Toward Same-Day Genome Sequencing in the Critical Care Setting (2025 · New England Journal of Medicine · 被引 11)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations (2025 · Nature Communications · 被引 5)
• Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes (2025 · Skeletal Muscle · 被引 5)
• Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association (2026 · Genetics in Medicine · 被引 3)
• Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions (2025 · medRxiv · 被引 3)