Author

Edward M. Blair

University of Oxford

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 Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Abhijit DixitiD· 2 shared Frances ElmslieiD· 2 shared Jacqueline EasoniD· 2 shared Natalie L.E. Canham· 2 shared Wendy D. JonesiD· 2 shared A. Paul BevaniD· 1 shared Adam J. Harvey· 1 shared Adam P. VogeliD· 1 shared

Activity by Year

2019-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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2 shared papersGenetics

Abhijit DixitORCID

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Author profile →

4 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

Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

Lottie D. Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Ann Briggs, Ruth O. Braden, Adam P. Vogel, Daisy G.Y. Thompson-Lake, Chirag Patel, Edward M. Blair, Himanshu Goel, Samantha J. Turner, Ute Moog, , Angela Tamsin Morgan

This study characterizes 29 individuals with FOXP2 variants, showing high prevalence of speech disorders and language impairments, with relatively specific phenotypes compared to other monogenic conditions.

medRxiv · Jun 1, 2022 · PreprintGenetic & Genomic Medicine

Bi-allelic MCM10 mutations cause telomere shortening with immune dysfunction and cardiomyopathy

Ryan M. Baxley, Wendy Leung, Megan Schmit, Jacob P. Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Marie-Pierre Dreau, , Anja‐Katrin Bielinsky

This study identifies bi-allelic MCM10 mutations causing telomere shortening, immune dysfunction, and cardiomyopathy by impairing DNA replication and telomerase activity.

Nature Communications · Mar 12, 2021Peer-reviewedMolecular Biology

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