Author

Amy E. Crunk

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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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Research Focus:cell type annotation· 1 Approach:statistical model· 1

Frequent Co-Authors

Ange‐Line BrueliD· 2 shared Anne‐Sophie Denommé‐PichoniD· 2 shared Benjamin CognéiD· 2 shared Bertrand IsidoriD· 2 shared Haley McConkey· 2 shared Jennifer KerkhofiD· 2 shared Matthew A. DeardorffiD· 2 shared Sadegheh HaghshenasiD· 2 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ange‐Line BruelORCID

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3 papers

Recent·Most cited

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

Philip M. Boone, Serkan Erdin, Abucar Mohamed, Sadegheh Haghshenas, Kamli N. W. Faour, Emeline M. Kao, Jack M. Fu, Chiara Auwerx, Ricardo Harripaul, Bimal Jana, Danielle Springer, Grey F. Hallström, Celine E. de Esch, Erica Rose Denhoff, Lauren Holmes, , Ilaria Parenti

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

medRxiv · Feb 28, 2026 · PreprintGenetic & Genomic Medicine

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

Hendrikus J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc, Angeline Preto, Justine Rousseau, Jade Charbonneau, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Estelle Colin, Bertrand Isidor, Sophie Nambot, Desiree DeMille, Pınar Bayrak‐Toydemir, Nicola Longo, , Philippe M. Campeau

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

bioRxiv · Jan 19, 2026 · PreprintGenetics

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, , Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

Genetics in Medicine · Aug 3, 2021Peer-reviewedGenetics