Elston N. D’Souza

机构：Centre for Human Genetics, Open Data Institute, University of Oxford · ORCID：0000-0002-5394-7260

发表论文 17 篇 · 总被引 318 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)
• Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource (2020 · Nature Genetics · 被引 62)
• Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes (2024 · Genome biology · 被引 33)
• MTR3D: identifying regions within protein tertiary structures under purifying selection (2021 · Nucleic Acids Research · 被引 29)
• The role of untranslated region variants in Mendelian disease: a review (2025 · European Journal of Human Genetics · 被引 14)
• 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)