Author

Juliana Maria Ferraz Sallum

Universidade Federal de São PauloORCID 0000-0002-7206-4447Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alaa AlTalbishiiD· 2 shared Alexander HoischeniD· 2 shared Camiel J. F. BooniD· 2 shared Carel B. HoyngiD· 2 shared Carmen AyusoiD· 2 shared Caroline C. W. KlaveriD· 2 shared Christian GilisseniD· 2 shared Claire‐Marie DhaenensiD· 2 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alaa AlTalbishiORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 6, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková…·Gaël Manès

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

15 citations

𝕏 PostBluesky

GeneticsGenetics in MedicinePeer-reviewedApr 19, 2020

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero…·Frans P.M. Cremers

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

131 citationstop 2%

humanwhole-genome sequencing

𝕏 PostBluesky