Author

Ana Sofia Quintas

Unidade Local de Saúde Santa Maria

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

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Adeline L. VanderveriD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Amy M. PizzinoiD· 1 shared Antonio Romito· 1 shared Arastoo VossoughiD· 1 shared Awatif Hameed Issa· 1 shared Brianna Disanza· 1 shared Carlos A Dominguez GonzaleziD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adeline L. VanderverORCID

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Author profile →

1 paper

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