Elston N. D’Souza

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource

Stephanie Portelli, Moshe Olshansky, Carlos H. M. Rodrigues et al. · Nature Genetics · 2020 · 62 citations · Full text

Life Sciences, Genetics, Infectious Diseases +11

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes

Nechama Wieder, Elston N. D’Souza, Alexandra C Martin-Geary et al. · Genome biology · 2024 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

MTR3D: identifying regions within protein tertiary structures under purifying selection

Michael Silk, Douglas E. V. Pires, Carlos H. M. Rodrigues et al. · Nucleic Acids Research · 2021 · 29 citations · Full text

Life Sciences, Bioinformatics, Genetics +15

<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · medRxiv · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17