Author

Anna Segarra-Fas

University of DundeeORCID 0000-0003-4964-9778Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 3

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Organism:mouse· 1

Frequent Co-Authors

Francisco BustosiD· 3 shared Greg M. FindlayiD· 3 shared Rachel L. TothiD· 3 shared Gino NardocciiD· 2 shared Alison J. EatoniD· 1 shared Andrew CassidyiD· 1 shared C. James HastieiD· 1 shared Carmen Espejo-SerranoiD· 1 shared

Activity by Year

2020-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersDevelopmental Biology

Francisco BustosORCID

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3 papers

Recent·Most cited

Developmental BiologyScientific ReportsPeer-reviewedMay 5, 2021

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas…·Greg M. Findlay

This paper identifies a novel RLIM variant causing severe Tonne-Kalscheuer syndrome by disrupting protein stability and function.

13 citations

humanexperimental assay

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Developmental BiologybioRxivPreprintNov 16, 2020

A RNF12-USP26 amplification loop promotes germ cell specification and is disrupted in urogenital disorders

Anna Segarra-Fas, Francisco Bustos, Rachel L. Toth…·Greg M. Findlay

The paper identifies a RNF12-USP26 amplification loop critical for germ cell specification and shows its disruption in urogenital disorders.

2 citations

humanbulk RNA-seq

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Developmental BiologyDevelopmental CellPeer-reviewedOct 19, 2020

Functional diversification of Ser-Arg rich protein kinases to control ubiquitin-dependent neurodevelopmental signalling

Francisco Bustos, Anna Segarra-Fas, Gino Nardocci…·Greg M. Findlay

The paper shows SRPK regulates ubiquitin-dependent neurodevelopmental signalling by phosphorylating RNF12, linking SRPK mutations to intellectual disability.

61 citationstop 2%

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