Author

Katarzyna Bialas

Newcastle UniversityORCID 0000-0001-6255-2116Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:scRNA-seq· 1

Frequent Co-Authors

Adriana BuskiniD· 1 shared Alastair DroopiD· 1 shared Basudha BasuiD· 1 shared Carla MelloughiD· 1 shared Chris F. InglehearniD· 1 shared Colin A. JohnsoniD· 1 shared David DolaniD· 1 shared DAVID H. STEELiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adriana BuskinORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintDec 11, 2017

Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa

Adriana Buskin, Lili Zhu, Valeria Chichagova…·Majlinda Lako

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.

5 citations

humanscRNA-seq

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