Author

Angela J Barnicoat

Great Ormond Street Hospital

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 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Elena PrigmoreiD· 2 shared Helen V. FirthiD· 2 shared Jeremy F. McRaeiD· 2 shared Joanna KaplanisiD· 2 shared Rosemarie Davidson· 2 shared A. Paul BevaniD· 1 shared Abhijit DixitiD· 1 shared Adrian R. TiveyiD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenomics

Elena PrigmoreORCID

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3 papers

Recent·Most cited

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

Morad Ansari, Mihail R. Halachev, David Parry, Jose L. Campos, Elston N. D’Souza, Christopher Barnett, Andrew O.M. Wilkie, Angela J Barnicoat, Chirag Patel, Elena Sukarova-Angelovska, Katta M. Girisha, Helen V. Firth, Katrina Prescott, Louise C. Wilson, Meriel McEntagart, , Alison M. Meynert

This study uses whole genome sequencing to identify causative variants in mutation-negative Cornelia de Lange Syndrome patients, finding novel genes and regulatory regions involved.

Human Mutation · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine

Genetic and chemotherapeutic causes of germline hypermutation

Joanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, Matthew D. C. Neville, Petr Danecek, Tim H. H. Coorens, Elena Prigmore, Patrick Short, Giuseppe Gallone, Jeremy F. McRae, Loukas Moutsianas, Chris A. Odhams, Jenny Carmichael, Angela J Barnicoat, Helen V. Firth, , Matthew E. Hurles

The paper identifies genetic and chemotherapeutic causes of germline hypermutation by analyzing genome-wide sequences of families with rare genetic diseases.

Nature · May 11, 2022Peer-reviewedGenomics

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia A. Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, , Neeti Ghali

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

bioRxiv · Mar 7, 2019 · PreprintGenetics