Author

Renan E. Aparicio

Rockefeller UniversityORCID 0000-0002-8408-4963Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Carol J. Nelson-WilliamsiD· 1 shared Christopher CastaldiiD· 1 shared James KnightiD· 1 shared Michael C. SierantiD· 1 shared Richard P. LiftoniD· 1 shared Robert D. Bjornson· 1 shared Samir ZaidiiD· 1 shared Sheng Chih JiniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Carol J. Nelson-WilliamsORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 28, 2025

Mutations in 329 probands with suspected renal electrolyte disorders

Renan E. Aparicio, Sheng Chih Jin, Weilai Dong…·Richard P. Lifton

The paper identifies genetic mutations in 329 patients with suspected renal electrolyte disorders, finding known/likely disease-causing variants in 295 probands and highlighting non-coding variants and novel mitochondrial mutations.

DOI 10.1101/2025.04.28.25326317

humanwhole-exome sequencing