Alexandra C Martin-Geary

机构：Centre for Human Genetics, Open Data Institute, University of Oxford · ORCID：0000-0002-5818-1962

发表论文 14 篇 · 总被引 246 次 · h-index 7

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes (2024 · Genome biology · 被引 33)
• Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease (2019 · Circulation Genomic and Precision Medicine · 被引 29)
• The role of untranslated region variants in Mendelian disease: a review (2025 · European Journal of Human Genetics · 被引 14)
• Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants (2024 · Genetics in Medicine · 被引 11)
• 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)