Author

Anna C. Pfalzer

Vanderbilt UniversityORCID 0000-0001-8317-3318Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Ananya TeralaiD· 1 shared Belinda WangiD· 1 shared Charlene Son RigbyiD· 1 shared Helen Rankin WillseyiD· 1 shared Ingo HelbigiD· 1 shared Jackie Steinberg· 1 shared James D. SchmidtiD· 1 shared James R. GossiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperDevelopmental Biology

Ananya TeralaORCID

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2 papers

Recent·Most cited

Koolen-de Vries Syndrome causal gene KANSL1 is required for motile ciliogenesis

James D. Schmidt, Ananya Terala, Kate E. McCluskey, Belinda Wang, Anna C. Pfalzer, Helen Rankin Willsey

This study shows that KANSL1 mutations cause ciliary defects in KdVS patients, linking the gene to ciliogenesis and neurodevelopmental features.

bioRxiv · Nov 14, 2024 · PreprintDevelopmental Biology

A disease concept model for STXBP1-related disorders

Katie Rose Sullivan, Sarah McKeown Ruggiero, Julie Xian, Kim Marie Thalwitzer, Rahma Ali, Sydni Stewart, Mahgenn Cosico, Jackie Steinberg, James R. Goss, Anna C. Pfalzer, Kyle J. Horning, Nicole C. Weitzel, Sydney Corey, Laura J. Conway, Charlene Son Rigby, , Ingo Helbig

This paper develops a disease concept model for STXBP1-related disorders by analyzing qualitative interviews to map symptoms and their impacts across clinical domains and age groups.

Epilepsia Open · Jan 10, 2023Peer-reviewedGenetic & Genomic Medicine