Author

Catarina Limbert

Hospital de Dona EstefâniaORCID 0000-0002-7455-4538Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Ana Laura FitasiD· 1 shared Ana Tangari· 1 shared Andrew Tym HattersleyiD· 1 shared Antonia DastamaniiD· 1 shared Birgit M. Rami-MerhariD· 1 shared Carlos Penha‐GonçalvesiD· 1 shared Charles F. VergeiD· 1 shared Christine S. FlaxmaniD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Laura FitasORCID

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2 papers

Recent·Most cited

The rare DRB1*04-DQ8 haplotype is the main discriminative HLA class II genetic driver of Early-Onset Type 1 Diabetes in the Portuguese population

Íris Caramalho, Paula Matoso, Dário Ligeiro, Tiago Paixão, Daniel Sobral, Ana Laura Fitas, Catarina Limbert, Jocelyne Demengeot, Carlos Penha‐Gonçalves

The paper identifies the rare DRB1*04:08-DQ8 haplotype as a major genetic driver of Early-Onset Type 1 Diabetes in the Portuguese population.

medRxiv · Jul 23, 2023 · PreprintGenetic & Genomic Medicine

A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1

Matthew Neil Wakeling, Nick D. L. Owens, Jessica R. Hopkinson, Matthew B. Johnson, Jayne Houghton, Antonia Dastamani, Christine S. Flaxman, Rebecca C. Wyatt, Thomas I. Hewat, Jasmin J. Hopkins, Thomas William Laver, Rachel van Heugten, Michael N. Weedon, Elisa De Franco, Kashyap Amratlal Patel, , Sarah Elizabeth Flanagan

The paper identifies non-coding mutations in a regulatory element of HK1 that lead to inappropriate expression in pancreatic beta-cells and cause congenital hyperinsulinism.

Nature Genetics · Nov 1, 2022Peer-reviewedGenetic & Genomic Medicine