Author

Maria Fernandes

Centre for Human GeneticsPrimary ORCID profile (0000-0002-8733-1018 · 2 papers)Unclaimed ORCID profile · follow to get notified of new preprints

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Same name, identified by ORCID

Maria FernandesiD2 papers · University of Luxembourg

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexandra C Martin-GearyiD· 2 shared Elston N. D’SouzaiD· 2 shared Jonathan Talbot-Martin· 2 shared Nechama Wieder· 2 shared Nicola WhiffiniD· 2 shared Alexander J. M. BlakesiD· 1 shared Christian G. DeGoede· 1 shared Christopher B. BurgeiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenomics

Alexandra C Martin-GearyORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

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, Frederik Heymann Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia Pankaj Chothani, Owen J. L. Rackham, Sebastian Schäfer, Julie L. Aspden, Daniel G. MacArthur, Robert W. Davies, Nicola Whiffin

The paper examines 5' untranslated regions (UTRs) to show their role in translational regulation of dosage-sensitive genes and introduces a web tool for analyzing 5UTR composition.

Genome biology · Apr 29, 2024Peer-reviewedGenomics

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

Alexandra C Martin-Geary, Alexander J. M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N. D’Souza, Maria Fernandes, Sarah Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian G. DeGoede, , Nicola Whiffin

This study identifies disease-causing promoter and untranslated region variants in 8,040 undiagnosed rare disease patients using a new framework and finds 12 variants with potential pathogenicity.

medRxiv · Sep 12, 2023 · PreprintGenetic & Genomic Medicine