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

GenomicsGenome biologyPeer-reviewedApr 29, 2024

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…·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.

37 citationstop 3%

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintSep 12, 2023

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…·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.

5 citations

humanwhole-genome sequencing

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