Author

Susana Carmona

UCL Queen Square Institute of NeurologyORCID 0000-0002-9522-7771Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Susana Carmona1 paper · Instituto de Salud Carlos III

Biology Disciplines

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Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Assay:long-read sequencing· 1 Organism:mouse· 1

Frequent Co-Authors

John HardyiD· 2 shared Afina Willemina LemstraiD· 1 shared Alberto LleóiD· 1 shared Andrew John LeesiD· 1 shared Andrew SingletoniD· 1 shared Anna L. TierneyiD· 1 shared Anne BraaeiD· 1 shared Bradley F. BoeveiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetics

John HardyORCID

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2 papers

Recent·Most cited

Long-read transcriptomic identification of synaptic adaptation to amyloid pathology in the App(NL-G-F) knock-in mouse model of the earliest phase of Alzheimer's disease

Ümran Yaman, Gareth T. Banks, Emil Karl Gustavsson, Paige Mumford, Naciye Magusali, Orjona Stella Taso, Hannah L. Macpherson, Susana Carmona, Malgorzata Murray, Rasneer Sonia Bains, Hamish Forrest, Michelle E. Stewart, Connor Scott, Tatiana V. Lipina, Zhao Cheng, , Dervis A. M. Salih

The paper uses long-read RNA-seq to study splicing changes in an Alzheimer's mouse model, identifying novel transcript isoforms and alternative splicing events in response to amyloid-beta.

bioRxiv · Aug 10, 2024 · PreprintGenetics

Heritability and genetic variance of dementia with Lewy bodies

Rita João Guerreiro, Valentina Escott‐Price, Dena G. Hernandez, Célia Kun‐Rodrigues, Owen A. Ross, Tatiana Orme, João Luís Neto, Susana Carmona, Nadia Dehghani, John D. Eicher, Claire E. Shepherd, Laura Parkkinen, Lee Darwent, Michael G. Heckman, Sonja W. Scholz, , José Brás

This study estimates the heritability of dementia with Lewy bodies (DLB) and finds it to be higher than previous estimates, with low variance explained by polygenic risk scores from Parkinson's or Alzheimer's disease.

Neurobiology of Disease · Apr 3, 2019Peer-reviewedNeuroscience