Author

Deborah J. Shears

Nuffield Orthopaedic Centre

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· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Research Focus:GWAS / association mapping· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Mohnish SuriiD· 2 shared Wendy D. JonesiD· 2 shared Abhijit DixitiD· 1 shared Aditi Shah ParikhiD· 1 shared Ahmed K. ShalabyiD· 1 shared Ajith KumariD· 1 shared Alexander T. DengiD· 1 shared Alice GardhamiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Mohnish SuriORCID

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Author profile →

3 papers

Recent·Most cited

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance L. Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah T. Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, , Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

European Journal of Human Genetics · Oct 24, 2024Peer-reviewedGenetic & Genomic Medicine

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

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

Jing Yu, Anita Szabó, Alistair T. Pagnamenta, Ahmed K. Shalaby, Edoardo Giacopuzzi, Jenny C. Taylor, Deborah J. Shears, Nikolas Pontikos, Genevieve Wright, Michel Michaelides, Stephanie Halford, Susan M. Downes

SVRare improves the discovery of disease-causing structural variants by aggregating and annotating rare variants from whole genome sequencing data in the 100K Genomes Project.

medRxiv · Oct 15, 2021 · PreprintGenetic & Genomic Medicine