Author

Nechama Wieder

Centre for Human Genetics

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

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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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 Maria Fernandes· 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

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2 shared papersGenomics

Alexandra C Martin-GearyORCID

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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