Author

João Leandro

Icahn School of Medicine at Mount SinaiORCID 0000-0002-0163-3235Unclaimed 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 Ralph J. DeBerardinisiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

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

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

Bryn D. Webb, Sara M. Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J. Rodenburg, João Leandro, Anthony Evans, Hieu Vu, Thomas Paul Naidich, Bruce D. Gelb, Ralph J. DeBerardinis, Jared P. Rutter, 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.

eLife · Feb 16, 2023Peer-reviewedGenetic & Genomic Medicine