Author

Claire E. Redin

Broad Institute

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 4 Organism:human· 4 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Michael E. TalkowskiiD· 2 shared Philip M. BooneiD· 2 shared Alessandra Pia PorrettaiD· 1 shared Alexander A.L. JorgeiD· 1 shared Alina HestersiD· 1 shared Alma Kuechler· 1 shared Amanda R. ClauseiD· 1 shared Andréa de Castro LealiD· 1 shared

Activity by Year

2017-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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2 shared papersGenomics

Michael E. TalkowskiORCID

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Author profile →

4 papers

Recent·Most cited

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador, Laura Duffy, Deniz Kanber, Jasmin Beygo, Jennifer Kerkhof, Laura Steenpaß, Elsa Leitão, Julia Woestefeld, Philip M. Boone, Emeline M. Kao, Lama AlAbdi, Hesham Aldhalaan, Fowzan Sami Alkuraya, , Frank J. Kaiser

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

Nature Communications · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

Kiana Mohajeri, Rachita Yadav, Eva D’haene, Philip M. Boone, Serkan Erdin, Dadi Gao, Mariana Moysés‐Oliveira, Riya Bhavsar, Benjamin Currall, Kathryn O’Keefe, Nicholas D. Burt, Chelsea Lowther, Diane E. Lucente, Monica Salani, Mathew Larson, , Michael E. Talkowski

The paper investigates the effects of MEF2C mutations and chromatin structural variants on transcriptional and functional outcomes in neuronal models, revealing differential impacts based on mutation type and chromatin topology.

The American Journal of Human Genetics · Oct 24, 2022Peer-reviewedGenomics

A polygenic risk score to predict sudden cardiac arrest in patients with coronary artery disease

Eleonora Porcu, Christian Thorball, Alessandra Pia Porretta, Etienne J. Pruvot, Kim Wiskott, Federica Gilardi, Aurélien Thomas, Claire E. Redin, Zoltán Kutalik, Tony Fracasso, Olivier Müller, Jacques Fellay

This paper develops a polygenic risk score (metaPRS) to predict sudden cardiac arrest in patients with coronary artery disease using genetic and clinical data from two cohorts.

medRxiv · Jul 26, 2022 · PreprintGenetic & Genomic Medicine

Structural disruption of genomic regions containing ultraconserved elements is associated with neurodevelopmental phenotypes

Ruth B. McCole, Wren Saylor, Claire E. Redin, Chamith Y. Fonseka, Harrison Brand, Jelena Erceg, Michael E. Talkowski, Chao-ting Wu

The paper identifies a link between structural genomic disruptions near ultraconserved elements and neurodevelopmental phenotypes.

bioRxiv · Dec 13, 2017 · PreprintGenomics