Author

Liliya Nazlamova

University of SouthamptonORCID 0000-0002-8458-5581Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:protein structure· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Gabrielle WhewayiD· 3 shared Jelmer LegebekeiD· 2 shared A Churchill· 1 shared Adnan AzimiD· 1 shared Christopher J. McCormickiD· 1 shared Claire L. JacksoniD· 1 shared Cornelia BlumeiD· 1 shared Cosma Mirella SpallutoiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersMolecular Biology

Gabrielle WhewayORCID

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3 papers

Recent·Most cited

Molecular BiologyNature GeneticsPeer-reviewedJan 11, 2021

A novel isoform of ACE2 is expressed in human nasal and bronchial respiratory epithelia and is upregulated in response to RNA respiratory virus infection

Cornelia Blume, Claire L. Jackson, Cosma Mirella Spalluto…·Vito Mennella

The paper identifies a novel short ACE2 isoform expressed in respiratory epithelia that is upregulated by interferon and RNA virus infection but not SARS-CoV-2, and shows reduced SARS-CoV-2 binding affinity.

180 citationstop 1%

human

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Genetic & Genomic MedicineHuman GeneticsPeer-reviewedOct 23, 2020

High-throughput PRPF31 variant characterisation pipeline consistent with ACMG/AMP clinical variant interpretation guidelines

Liliya Nazlamova, Nicholas Simon Thomas, Man‐Kim Cheung…·Gabrielle Wheway

This paper presents a high-throughput imaging assay for characterizing PRPF31 missense variants using CRISPR-edited cells, providing evidence for variant classification.

9 citations

humanexperimental assay

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GeneticsFrontiers in GeneticsPeer-reviewedMar 22, 2019

A combined in silico, in vitro and clinical approach to characterise novel pathogenic missense variants in PRPF31 in retinitis pigmentosa

Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad…·A Churchill

The paper uses in silico, in vitro, and clinical approaches to assess the pathogenicity of a novel missense variant in PRPF31 associated with retinitis pigmentosa.

9 citations

humanprotein structure

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