Author

Thomas Paul Naidich

Icahn School of Medicine at Mount SinaiORCID 0000-0003-2304-7007Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anthony Evans· 1 shared Ashley SolmonsoniD· 1 shared Bruce D. GelbiD· 1 shared Bryn D. WebbiD· 1 shared Hieu VuiD· 1 shared Jared P. RutteriD· 1 shared Jaya GaneshiD· 1 shared João LeandroiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anthony Evans

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1 paper

Recent·Most cited

Genetic & Genomic MedicineeLifePeer-reviewedFeb 16, 2023

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

Bryn D. Webb, Sara M. Nowinski, Ashley Solmonson…·Sander M. Houten

The paper identifies biallelic MCAT variants in a patient with combined oxidative phosphorylation deficiency and shows reduced ETC complex subunits and enzyme activities.

10 citations

humanwhole-exome sequencing

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