Author

Anne Lampe

Western General 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· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:benchmark study· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:deconvolution· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1

Frequent Co-Authors

Alison Ross· 3 shared Jonathan N. BergiD· 3 shared Andrew GreeniD· 2 shared Emma C. KivuvaiD· 2 shared John DeaniD· 2 shared Karen Jaqueline LowiD· 2 shared Ruth A Newbury-EcobiD· 2 shared Sally Ann LynchiD· 2 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alison Ross

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Author profile →

3 papers

Recent·Most cited

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert, Anthony McGuigan, Alison Ross, Edward S. Tobias, Ruth McGowan, Morad Ansari, David U. Baty, Jonathan N. Berg, Therese Bradley, Vera Cerqueira, Austin G. Diamond, Mihail R. Halachev, Anne Lampe, , Timothy J. Aitman

This study uses long-read sequencing to identify pathogenic structural variants in undiagnosed rare disease families, increasing diagnostic yield in three families.

European Journal of Human Genetics · Aug 5, 2026Peer-reviewedGenetic & 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

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia A. Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Deciphering Developmental Disorders Study, Silvia Borras, Caroline Clark, , Therese Bradley

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

Nature Communications · Jan 27, 2021Peer-reviewedGenetic & Genomic Medicine