Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Elston N. D'Souza"'
Autor:
Nechama Wieder, Elston N. D’Souza, Alexandra C. Martin-Geary, Frederik H. Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia P. Chothani, Owen J. L. Rackham, Sebastian Schafer, Julie L. Aspden, Daniel G. MacArthur, Robert W. Davies, Nicola Whiffin
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-16 (2024)
Abstract Background Untranslated regions (UTRs) are important mediators of post-transcriptional regulation. The length of UTRs and the composition of regulatory elements within them are known to vary substantially across genes, but little is known ab
Externí odkaz:
https://doaj.org/article/419dbeb079c94514871454c4158e40f1
Autor:
Nechama Wieder, Elston N. D’Souza, Alexandra C. Martin-Geary, Frederik H. Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia P. Chothani, Owen J.L. Rackham, Sebastian Schafer, Julie L. Aspden, Daniel G. MacArthur, Robert W. Davies, Nicola Whiffin
BackgroundUntranslated regions (UTRs) are important mediators of post-transcriptional regulation. The length of UTRs and the composition of regulatory elements within them are known to vary substantially across genes, but little is known about the re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fd08583ee4317e803c8a2491067c221
https://doi.org/10.1101/2023.05.15.540809
https://doi.org/10.1101/2023.05.15.540809
Autor:
Morad Ansari, Mihail Halachev, David Parry, Jose L. Campos, Elston N. D’Souza, Christopher Barnett, Andrew O. M. Wilkie, Angela Barnicoat, Chirag V. Patel, Elena Sukarova-Angelovska, Katta M. Girisha, Helen V. Firth, Katrina Prescott, Louise C. Wilson, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Shelagh Joss, Simon T. Holden, Wayne K. Lam, Sanjay M. Sisodiya, Andrew J. Green, Gemma Poke, Nicola Whiffin, David R. FitzPatrick, Alison Meynert
AimsThis study assesses the diagnostic utility of whole genome sequence analysis in a well-characterised research cohort of individuals referred with a clinical suspicion of Cornelia de Lange syndrome (CdLS) in whom prior genetic testing had not iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::658ddd56bd89aab50f38913ae70df264
https://doi.org/10.1101/2022.09.18.22277970
https://doi.org/10.1101/2022.09.18.22277970
Autor:
Moshe Olshansky, Douglas E. V. Pires, Michael Silk, David B. Ascher, Natalie P. Thorne, Elston N D'Souza, Carlos H M Rodrigues
Publikováno v:
Nucleic Acids Research
The identification of disease-causal variants is non-trivial. By mapping population variation from over 448,000 exome and genome sequences to over 81,000 experimental structures and homology models of the human proteome, we have calculated both regio
Autor:
Stephanie, Portelli, Moshe, Olshansky, Carlos H M, Rodrigues, Elston N, D'Souza, Yoochan, Myung, Michael, Silk, Azadeh, Alavi, Douglas E V, Pires, David B, Ascher
Publikováno v:
Nature Genetics
Autor:
Carlos H M Rodrigues, Elston N D'Souza, Yoochan Myung, Stephanie Portelli, Azadeh Alavi, Moshe Olshansky, David B. Ascher, Michael Silk, Douglas E. V. Pires
Publikováno v:
Nature Genetics
The emergence of the COVID-19 pandemic has spurred a global rush to uncover basic biological mechanisms to inform effective vaccine and drug development. Despite the novelty of the virus, global sequencing efforts have already identified genomic vari
Autor:
Chm Rodrigues, Moshe Olshansky, Yoochan Myung, Michael Silk, David B. Ascher, Elston N D'Souza, Dev Pires, Stephanie Portelli, Azadeh Alavi
SUMMARYThe emergence of the COVID-19 pandemic has spurred a global rush to uncover basic biological mechanisms, to inform effective vaccine and drug development. Despite viral novelty, global sequencing efforts have already identified genomic variati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6436ce785a3cedb6299e8d270531aea9
https://doi.org/10.1101/2020.05.29.124610
https://doi.org/10.1101/2020.05.29.124610
Autor:
Carlos H M Rodrigues, Stephanie Portelli, Azadeh Alavi, Michael Silk, Elston N D'Souza, David B. Ascher, Moshe Olshansky, Douglas E. V. Pires, Yoochan Myung
Publikováno v:
Nature Genetics