Author

Marta Bértoli

Newcastle upon Tyne Hospitals NHS Foundation TrustORCID 0000-0002-4183-8622Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:deconvolution· 1 Assay:electronic health records· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Abhijit DixitiD· 1 shared Ajoy Sarkar· 1 shared Albert C.M. OngiD· 1 shared Albertien M. van EerdeiD· 1 shared Alice E. DavidsoniD· 1 shared Alice GardhamiD· 1 shared Alice Marsden· 1 shared Alison Ross· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abhijit DixitORCID

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2 papers

Recent·Most cited

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Valentina Cipriani, Letizia Vestito, Emma Forton Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah Raphael Behr, Katherine Angela Benson, Marta Bértoli, Detlef Böckenhauer, Michael R. Bowl, Kate Burley, Li F. Chan, Patrick Francis Chinnery, Peter J. Conlon, Marcos Abreu Costa, , Damian P. Smedley

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

medRxiv · Dec 20, 2023 · PreprintGenetic & Genomic Medicine

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

Harriet Copeland, Karen Jaqueline Low, Sarah Wynn, Ayesha Ahmed, Victoria Arthur, Meena Balasubramanian, Katya Bennett, Jonathan N. Berg, Marta Bértoli, Lisa Bryson, Catrin Bucknall, Jamie Campbell, Kate Chandler, Jaynee Chauhan, Amy Clarkson, , Caroline Fiona Wright

The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.

medRxiv · Oct 18, 2023 · PreprintGenetic & Genomic Medicine