Author

Patrick H. Campbell

Cambridge University Hospitals NHS Foundation Trust

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· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Approach:Bayesian inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:polygenic risk· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Caroline Fiona WrightiD· 3 shared Helen V. FirthiD· 3 shared Hilary C. MartiniD· 3 shared Kaitlin E. SamochaiD· 3 shared Matthew E. HurlesiD· 3 shared Petr DanecekiD· 3 shared Sarah LindsayiD· 3 shared V. Kartik ChundruiD· 3 shared

Activity by Year

2022-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Caroline Fiona WrightORCID

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3 papers

Recent·Most cited

Substantial role of rare inherited variation in individuals with developmental disorders

Kaitlin E. Samocha, V. Kartik Chundru, Jack M. Fu, Eugene J. Gardner, Petr Danecek, Emilie M. Wigdor, Daniel Shiloh Malawsky, Sarah Lindsay, Patrick H. Campbell, Tarjinder Singh, Ruth Y. Eberhardt, Giuseppe Gallone, Caroline Fiona Wright, Hilary C. Martin, Helen V. Firth, Matthew E. Hurles

The paper investigates the role of rare inherited coding variants in developmental disorders by analyzing family and case/control data, finding significant burdens of damaging variants and estimating their population attributable risk.

medRxiv · Aug 28, 2024 · PreprintGenetic & Genomic Medicine

Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions

Qin Qin Huang, Emilie M. Wigdor, Patrick H. Campbell, Daniel Shiloh Malawsky, Kaitlin E. Samocha, V. Kartik Chundru, Petr Danecek, Sarah Lindsay, Thomas Marchant, Mahmoud Koko, Sana Amanat, Davide Bonifanti, Eamonn G. Sheridan, Elizabeth J. Radford, Jeffrey C. Barrett, , Hilary C. Martin

This study investigates how common genetic variants contribute to risk for rare neurodevelopmental conditions and examines indirect genetic effects through parental non-transmitted alleles.

medRxiv · Mar 5, 2024 · PreprintGenetic & Genomic Medicine

Optimising diagnostic yield in highly penetrant genomic disease

Caroline Fiona Wright, Patrick H. Campbell, Ruth Y. Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J. Gardner, V. Kartik Chundru, Sarah Lindsay, Katrina A. Andrews, Juliet E. Hampstead, Joanna Kaplanis, Kaitlin E. Samocha, Anna Middleton, , Helen V. Firth

The paper reports diagnostic outcomes from a large-scale genomic study of developmental disorders, identifying factors that influence diagnostic success.

medRxiv · Jul 25, 2022 · PreprintGenetic & Genomic Medicine