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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438.
medRxiv. 2024.
PMID: 38645094
Free PMC article.
Preprint.
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N.
Martin-Geary AC, et al. Among authors: d souza en.
medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416.
medRxiv. 2023.
PMID: 37745552
Free PMC article.
Preprint.
Item in Clipboard
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
Wieder N, D'Souza EN, Martin-Geary AC, Lassen FH, Talbot-Martin J, Fernandes M, Chothani SP, Rackham OJL, Schafer S, Aspden JL, MacArthur DG, Davies RW, Whiffin N.
Wieder N, et al. Among authors: d souza en.
Genome Biol. 2024 Apr 29;25(1):111. doi: 10.1186/s13059-024-03248-0.
Genome Biol. 2024.
PMID: 38685090
Free PMC article.
Item in Clipboard
Modulation of prion protein expression through cryptic splice site manipulation.
Gentile JE, Corridon TL, Mortberg MA, D'Souza EN, Whiffin N, Minikel EV, Vallabh SM.
Gentile JE, et al. Among authors: d souza en.
bioRxiv [Preprint]. 2023 Dec 19:2023.12.19.572439. doi: 10.1101/2023.12.19.572439.
bioRxiv. 2023.
PMID: 38187635
Free PMC article.
Preprint.
Item in Clipboard
MTR3D: identifying regions within protein tertiary structures under purifying selection.
Silk M, Pires DEV, Rodrigues CHM, D'Souza EN, Olshansky M, Thorne N, Ascher DB.
Silk M, et al. Among authors: d souza en.
Nucleic Acids Res. 2021 Jul 2;49(W1):W438-W445. doi: 10.1093/nar/gkab428.
Nucleic Acids Res. 2021.
PMID: 34050760
Free PMC article.
Item in Clipboard
Author Correction: Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource.
Portelli S, Olshansky M, Rodrigues CHM, D'Souza EN, Myung Y, Silk M, Alavi A, Pires DEV, Ascher DB.
Portelli S, et al. Among authors: d souza en.
Nat Genet. 2021 Feb;53(2):254. doi: 10.1038/s41588-020-00775-x.
Nat Genet. 2021.
PMID: 33398199
Free PMC article.
No abstract available.
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Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource.
Portelli S, Olshansky M, Rodrigues CHM, D'Souza EN, Myung Y, Silk M, Alavi A, Pires DEV, Ascher DB.
Portelli S, et al. Among authors: d souza en.
Nat Genet. 2020 Oct;52(10):999-1001. doi: 10.1038/s41588-020-0693-3.
Nat Genet. 2020.
PMID: 32908256
No abstract available.
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