Author

Cilla Söderhäll

Karolinska InstitutetORCID 0000-0002-8397-3080Unclaimed 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:DNA methylation· 1 Research Focus:eQTL / molecular QTL mapping· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ahmad Al KhleifatiD· 1 shared Aleksey ShatunoviD· 1 shared Alexia CardonaiD· 1 shared Alfredo IacoangeliiD· 1 shared Allan F. McRaeiD· 1 shared Ammar Al‐ChalabiiD· 1 shared Andrea VarroneiD· 1 shared Andres MetspaluiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmad Al KhleifatORCID

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2 papers

Recent·Most cited

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

Martin Paucar, Daniel Nilsson, Martin Engvall, José Miguel Laffita‐Mesa, Cilla Söderhäll, Mikael Skorpil, Christer Halldin, Patrik Fazio, Kristina Lagerstedt‐Robinson, Göran Solders, Maria Angéria, Andrea Varrone, Mårten Risling, Hong Jiao, Inger Nennesmo, , Per Svenningsson

This study identifies a GGC expansion in the ZFHX3 gene as the cause of SCA4, associated with dysautonomia and motor neuron signs.

Journal of Internal Medicine · Jul 7, 2024Peer-reviewedGenetic & Genomic Medicine

Genomic and phenomic insights from an atlas of genetic effects on DNA methylation

Josine L. Min, Gibran Hemani, Eilis J. Hannon, Koen F. Dekkers, Juan Castillo Fernandez, René Luijk, Elena Carnero‐Montoro, Daniel John Lawson, Kimberley Burrows, Matthew J Suderman, Andrew D. Bretherick, Tom G. Richardson, Johanna Klughammer, Valentina Iotchkova, Gemma C. Sharp, , Marinus H. van IJzendoorn

The paper identifies genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

Nature Genetics · Sep 1, 2021Peer-reviewedGenetic & Genomic Medicine