Author

Cristina Zabala

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 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Adeline L. VanderveriD· 1 shared Aída LemesiD· 1 shared Alfredo CerisolaiD· 1 shared Ananya Vohra· 1 shared Arastoo VossoughiD· 1 shared C.A. Cunningham· 1 shared Carlos A. Dominguez Gonzalez· 1 shared Cas SimonsiD· 1 shared

Activity by Year

2024-2024 · 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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1 paper

Recent·Most cited

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease

Carlos A. Dominguez Gonzalez, Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva, Aída Lemes, Cristina Zabala, Florencia Pérez‐Vidarte, Alfredo Cerisola, Arastoo Vossough, Matthew T. Whitehead, C.A. Cunningham, Natasha J. Brown, Rebecca Quin, Cas Simons, Thomas Conway, , Danny E. Miller

The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.

medRxiv · Dec 18, 2024 · PreprintGenetic & Genomic Medicine