Author

Anna Wilsdon

University of NottinghamORCID 0000-0003-2686-1039Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:whole-exome sequencing· 4 Research Focus:gene regulatory network inference· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Organism:zebrafish· 1

Frequent Co-Authors

Alejandro SifrimiD· 3 shared Enrique AudainiD· 3 shared Gregor DombrowskyiD· 3 shared J. David BrookiD· 3 shared Jeroen BreckpotiD· 3 shared Anne‐Karin KahlertiD· 2 shared Bernard ThienpontiD· 2 shared Hashim Abdul‐KhaliqiD· 2 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Alejandro SifrimORCID

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4 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJun 2, 2026

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study

Enrique Audain, Anna Wilsdon, Gregor Dombrowsky…·Marc‐Phillip Hitz

This study identifies rare variants and digenic interactions associated with congenital heart disease using a large-scale exome case-control analysis.

5 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 5, 2025

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

Sophie Allen, Charlie F Rowlands, Samantha Butler…·Catarina Olimpio

The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.

3 citations

humanwhole-exome sequencing

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GeneticsPLoS GeneticsPeer-reviewedJul 29, 2021

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

Enrique Audain, Anna Wilsdon, Jeroen Breckpot…·MP Hitz

The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.

35 citations

humanwhole-exome sequencing

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GeneticsbioRxivPreprintDec 11, 2019

Systems genetics analysis identify calcium signalling defects as novel cause of congenital heart disease

José M. G. Izarzugaza, Sabrina Gade Ellesøe, Canan Doğanlı…·Søren Brunak

The paper identifies calcium signalling defects as a novel cause of congenital heart disease through whole exome sequencing and functional validation in zebrafish.

1 citation

humanzebrafish

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