Author

Elizabeth Caruana Galizia

UCL Queen Square Institute of NeurologyORCID 0000-0003-3857-4037Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alistair T. PagnamentaiD· 1 shared Dimitris V. VavoulisiD· 1 shared Jenny C. TayloriD· 1 shared Knight Sjl.· 1 shared M Armstrong· 1 shared Melissa M. PentonyiD· 1 shared Sanjay M. SisodiyaiD· 1 shared Simona BalestriniiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alistair T. PagnamentaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 27, 2019

Whole genome sequencing identifies putative associations between genomic polymorphisms and clinical response to the antiepileptic drug levetiracetam

Dimitris V. Vavoulis, Alistair T. Pagnamenta, Knight Sjl.…·Jenny C. Taylor

This study uses whole genome sequencing to identify genomic variants associated with clinical response to levetiracetam in patients with epilepsy, finding common and rare variants in genes related to synaptic function and neurotransmission.

DOI 10.1101/19007674

humanwhole-genome sequencing

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