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| MTR3D: identifying regions within protein tertiary structures under purifying selection M Silk, DEV Pires, CHM Rodrigues, EN D’Souza, M Olshansky, N Thorne, ... Nucleic Acids Research 49 (W1), W438-W445, 2021 | 23 | 2021 |
| De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton, S Walker, J Lord, ... Nature 632 (8026), 832-840, 2024 | 12 | 2024 |
| Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes N Wieder, EN D’Souza, AC Martin-Geary, FH Lassen, J Talbot-Martin, ... Genome Biology 25 (1), 111, 2024 | 8 | 2024 |
| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders Y Chen, R Dawes, HC Kim, SL Stenton, S Walker, A Ljungdahl, J Lord, ... medRxiv, 2024 | 8 | 2024 |
| COVID-3D: An online resource to explore the structural distribution of genetic variation in SARS-CoV-2 and its implication on therapeutic development S Portelli, M Olshansky, CHM Rodrigues, EN D’Souza, Y Myung, M Silk, ... bioRxiv, 2020.05. 29.124610, 2020 | 7 | 2020 |
| Author correction: exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource S Portelli, M Olshansky, CHM Rodrigues, EN D’Souza, Y Myung, M Silk, ... Nature Genetics 53 (2), 254-254, 2021 | 3 | 2021 |
| Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease AC Martin-Geary, AJM Blakes, R Dawes, SD Findlay, J Lord, S Walker, ... medRxiv, 2023 | 2 | 2023 |
| Modulation of prion protein expression through cryptic splice site manipulation JE Gentile, TL Corridon, MA Mortberg, EN D’Souza, N Whiffin, EV Minikel, ... Journal of Biological Chemistry 300 (8), 2024 | | 2024 |
| Whole genome sequencing of ‘mutation-negative’individuals with Cornelia de Lange Syndrome M Ansari, M Halachev, D Parry, JL Campos, EN D’Souza, C Barnett, ... medRxiv, 2022.09. 18.22277970, 2022 | | 2022 |
