Author

Thomas M. Kaneko

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Genetic & Genomic Medicine· 1

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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 Renan E. AparicioiD· 1 shared Richard P. LiftoniD· 1 shared Robert D. Bjornson· 1 shared Samir ZaidiiD· 1 shared

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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

Mutations in 329 probands with suspected renal electrolyte disorders

Renan E. Aparicio, Sheng Chih Jin, Weilai Dong, Samir Zaidi, Michael C. Sierant, James Knight, Robert D. Bjornson, Christopher Castaldi, Shrikant Mane, Thomas M. Kaneko, Carol J. Nelson-Williams, 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.

medRxiv · Apr 28, 2025 · PreprintGenetic & Genomic Medicine