Author

Elliot S. Stolerman

Greenwood Genetic CenterORCID 0000-0001-9536-4621Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

A. Micheil InnesiD· 1 shared Alice GoldenbergiD· 1 shared Amélie PitoniD· 1 shared Amy Dameron· 1 shared André ReisiD· 1 shared Ann J. Lewis· 1 shared Anna RuiziD· 1 shared Anzy MilleriD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

A. Micheil InnesORCID

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2 papers

Recent·Most cited

Developmental BiologyBiochimica et Biophysica Acta (BBA) - Molecular Basis of DiseasePeer-reviewedApr 6, 2026

Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies

Srishti Silvano, Van Annika Zean Rick-Lenze, James Bagnall…·Cerys S Manning

The paper investigates YAP1 variants' role in ocular coloboma using in vitro and organoid studies, showing how missense variants affect YAP1-TEAD binding and transcriptional activity.

1 citation

humanexperimental assay

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GeneticsJournal of Medical GeneticsPeer-reviewedDec 15, 2021

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Thomas D. Challman…·Bénédicte Gérard

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

32 citations

humanwhole-exome sequencing

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