Author

Matthew Pahl

Children's Hospital of Philadelphia

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

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Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anthony M. GacitaiD· 1 shared Ingo HelbigiD· 1 shared Justin J. Blair· 1 shared Khushbu PateliD· 1 shared Laura Kathleen ConliniD· 1 shared Manuel Torres-DiziD· 1 shared Rajagopalan Ramakrishnan· 1 shared Shiva GanesaniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenomics

Anthony M. GacitaORCID

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1 paper

Recent·Most cited

Identifying Putative Pathogenic Non-Coding Variants in Unresolved Rare Disease Patients Using Topologically Associated Domains

Anthony M. Gacita, Matthew Pahl, Manuel Torres-Diz, Shiva Ganesan, Justin J. Blair, Khushbu Patel, Rajagopalan Ramakrishnan, Laura Kathleen Conlin, Ingo Helbig, Struan F.A. Grant

The paper introduces GAVURD, a system to identify putative pathogenic non-coding variants in unresolved rare disease patients using trio whole genome sequencing and TAD data, and identifies six potentially causal variants in ten probands.

bioRxiv · Sep 20, 2026 · PreprintGenomics