Author

Natalie L.E. Canham

Liverpool Womens 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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Genetics· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Abhijit DixitiD· 2 shared Edward M. Blair· 2 shared Frances ElmslieiD· 2 shared Jacqueline EasoniD· 2 shared Wendy D. JonesiD· 2 shared A. Paul BevaniD· 1 shared Adrian R. TiveyiD· 1 shared Ajith KumariD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetics

Abhijit DixitORCID

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2 papers

Recent·Most cited

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibault, Jonathan P. Williams, Edward M. Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie L.E. Canham, , Anne Goriely

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

bioRxiv · Jul 26, 2022 · PreprintGenetics

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