Author

Gabriel Marengo

Queen Mary University of LondonORCID 0009-0004-9420-8239Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Organism:mouse· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:database / resource· 1

Frequent Co-Authors

Damian P. SmedleyiD· 2 shared Pilar CacheiroiD· 2 shared Stephen A. MurrayiD· 2 shared David U. GorkiniD· 1 shared David ZoccheiD· 1 shared Ignatia B. Van den VeyveriD· 1 shared Kevin A. PetersoniD· 1 shared Michael DuyzendiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Damian P. SmedleyORCID

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2 papers

Recent·Most cited

The spectrum of gene intolerance to variation: Insights from a rare disease cohort

Pilar Cacheiro, Gabriel Marengo, David U. Gorkin, Kevin A. Peterson, Yonina Loskove, Stephen A. Murray, Damian P. Smedley

The paper analyzes gene intolerance to loss-of-function variation in a rare disease cohort to identify patterns in gene expression, sequence features, and disease associations across FUSIL categories.

medRxiv · Jan 28, 2025 · PreprintGenetic & Genomic Medicine

Lethal phenotypes in Mendelian disorders

Pilar Cacheiro, Samantha Lawson, Ignatia B. Van den Veyver, Gabriel Marengo, David Zocche, Stephen A. Murray, Michael Duyzend, Peter N. Robinson, Damian P. Smedley

This paper curates human essential genes based on lethality in Mendelian disorders and explores their relationships with constraint metrics and viability data.

Genetics in Medicine · Apr 15, 2024Peer-reviewedGenetic & Genomic Medicine