Author

Brianna Disanza

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.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Elizabeth J. K. BhojiD· 2 shared Rebecca C. Ahrens‐NicklasiD· 2 shared Adeline L. VanderveriD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alyssa L. GagneiD· 1 shared Amy M. PizzinoiD· 1 shared Ana Sofia Quintas· 1 shared Antonio Romito· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Elizabeth J. K. BhojORCID

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2 papers

Recent·Most cited

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza, Nicole Hsiao-Sánchez, Amy M. Pizzino, Kayla J. Muirhead, Joshua L. Bonkowsky, Ryan J. Taft, Nouriya Abbas Al-Sannaa, Patrícia Dias, Ana Sofia Quintas, Mehmet Burak Mutlu, , Adeline L. Vanderver

This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.

The American Journal of Human Genetics · Mar 25, 2026Peer-reviewedGenetic & Genomic Medicine

High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs

Carolina Gracia-Diaz, Jonathan Elliot Perdomo, Munir E. Khan, Brianna Disanza, Gregory G. Cajka, Sunyimeng Lei, Alyssa L. Gagne, Jean Ann Maguire, Thomas Roulé, Ophir Shalem, Elizabeth J. K. Bhoj, Rebecca C. Ahrens‐Nicklas, Deborah L. French, Ethan M. Goldberg, Kai Wang, , Naiara Akizu

The paper identifies CNVs in KOLF2.1J iPSCs linked to neurological disorders, showing they arose in vitro and affect gene expression in neural cells.

bioRxiv · Jun 26, 2023 · PreprintGenetics