Author

Daniel F. Wallace

QIMR Berghofer Medical Research InstituteORCID 0000-0002-6019-9424Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

James S. DooleyiD· 1 shared V. Nathan SubramaniamiD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

2 top collaborators · 0 mutual co-author links

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1 shared paperGenetics

James S. DooleyORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 10, 2024

A new form of hereditary iron overload unlinked to known hereditary haemochromatosis genes

Daniel F. Wallace, V. Nathan Subramaniam

The paper describes a new hereditary iron overload condition in a family unlinked to known genes like HFE and SLC40A1, with linkage to multiple chromosomes.

DOI 10.1101/2024.05.10.24307148

humanstatistical model

𝕏 PostBluesky

GeneticsHuman GeneticsPeer-reviewedApr 4, 2020

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease

Daniel F. Wallace, James S. Dooley

The paper estimates Wilson disease prevalence by analyzing ATP7B variant frequencies and penetrance, finding discrepancies between genetic and clinical prevalence due to variant penetrance differences.

70 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky