Author

Robert J. Desnick

Icahn School of Medicine at Mount SinaiORCID 0000-0001-5501-2971Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:variant effect prediction· 3 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Caroline SchmittiD· 2 shared Frederick P. RothiD· 2 shared Jordi To‐FiguerasiD· 2 shared Laurent GouyaiD· 2 shared Marinella GebbiaiD· 2 shared Warren van LoggerenbergiD· 2 shared Aasne Karine AarsandiD· 1 shared Aditya Chawla· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersMolecular Biology

Caroline SchmittORCID

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3 papers

Recent·Most cited

Molecular BiologybioRxivPreprintJul 3, 2026

Environment-dependent landscapes of coding variant impacts on coproporphyrinogen oxidase

Warren van Loggerenberg, Haotian Zhang, Vignesh Senguttuvan…·Frederick P. Roth

The paper systematically assesses the functional impact of CPOX variants under different environmental conditions, revealing mercury-dependent variant effects and improving variant classification.

DOI 10.64898/2026.07.02.735896

humanwhole-exome sequencing

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Molecular BiologyThe American Journal of Human GeneticsPeer-reviewedSep 19, 2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile…·Frederick P. Roth

This study systematically tests HMBS missense variants to determine their functional impact and distinguish pathogenic from benign variants.

32 citations

humanexperimental assay

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GeneticsClinical GeneticsPeer-reviewedSep 14, 2020

Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders

Go Hun Seo, Tae Ho Kim, Jung-young Park…·Beom Hee Lee

This study evaluates an automated variant interpretation system for whole exome sequencing, finding it improves diagnostic yield for genetic disorders by 51%.

174 citationstop 1%

humanwhole-exome sequencing

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