Author

Heather L. Appleby

NYU Langone Health

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

Biology Disciplines

Click to filter author papers

Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:mouse· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

D. Cristopher BraggiD· 2 shared Jef D. BoekeiD· 2 shared Kerry C. LimbergiD· 2 shared Priya PrakashiD· 2 shared Ran BroshiD· 2 shared Shane Antony LiddelowiD· 2 shared Weimin ZhangiD· 2 shared Yu ZhaoiD· 2 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersNeuroscience

D. Cristopher BraggORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Myelin pathology is a key feature of X-linked Dystonia Parkinsonism

Priya Prakash, Kerry C. Limberg, Weimin Zhang, Yu Zhao, Klaudia Flóra Laborc, Anna O'Keeffe, Bryanna C. Vilnaigre, Heather L. Appleby, Michael R. O’Dea, Cara Fernandez‐Cerado, G. Paul Legarda, Michelle Ann C. Sy, Edwin L. Muñoz, Mark Angelo C. Ang, Cid Czarina E. Diesta, , Shane Antony Liddelow

This study introduces a humanized mouse model of XDP with SVA_F insertion in TAF1, revealing myelin loss and oligodendrocyte dysfunction as key pathogenic features.

bioRxiv · Oct 7, 2025 · PreprintNeuroscience

Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism

Weimin Zhang, Yu Zhao, Priya Prakash, Heather L. Appleby, Kelly Barriball, Simona Capponi, Qingwen Jiang, Aleksandra M. Wudzinska, Christine A. Vaine, Gwen Ellis, Neha Rahman, Stefan Markovic, Orin Mishkit, Kerry C. Limberg, Matthew T. Maurano, , Jef D. Boeke

The paper genomically rewrote a mouse Taf1 allele with a human XDP patient-derived TAF1 allele, revealing that intronic SVA retrotransposons reduce TAF1 levels and cause neurodegeneration.

bioRxiv · Oct 7, 2025 · PreprintGenetics