Author

Anna K. Le Fevre

The University of MelbourneORCID 0000-0001-5843-9516Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Assay:ATAC-seq· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Alan S. MaiD· 1 shared Alexandra C Martin-GearyiD· 1 shared Alicia LjungdahliD· 1 shared Alison G. ComptoniD· 1 shared Alma Kuechler· 1 shared Andrew KeniryiD· 1 shared Angelika Rieß· 1 shared Anjali Gupta HinchiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alan S. MaORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintMay 14, 2026

SMCHD1 is a novel target for gene-activation therapy to treat Prader-Willi Syndrome

Megan Iminitoff, Anna K. Le Fevre, Tamara Cameron…·Marnie E. Blewitt

This study identifies SMCHD1 as a target for gene-activation therapy in Prader-Willi Syndrome by showing its role in repressing the PWS gene cluster and demonstrating gene activation in mouse models.

DOI 10.64898/2026.05.13.725051

mouseexperimental assay

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Genetic & Genomic MedicineNaturePeer-reviewedJul 11, 2024

✦ In-depth digest

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim…·David H. Viskochil

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

156 citationstop 1%

humanwhole-genome sequencing

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