Author

Zöe Powis

Ambry Genetics (United States)ORCID 0000-0002-1347-4358Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Boris KereniD· 2 shared Cyril MignotiD· 2 shared A. Micheil InnesiD· 1 shared Alejandro D. IglesiasiD· 1 shared Alice GoldenbergiD· 1 shared Amélie PitoniD· 1 shared Amy Dameron· 1 shared André ReisiD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Boris KerenORCID

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2 papers

Recent·Most cited

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

𝕏 PostBluesky

GeneticsPLoS GeneticsPeer-reviewedNov 30, 2018

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Susan M. Hiatt, Matthew B. Neu, Ryne C. Ramaker…·Gregory M. Cooper

The paper identifies de novo mutations in RALA, a RAS-like GTPase, as a cause of intellectual disability and developmental delay, showing their functional impact on GTP binding and effector interactions.

35 citations

humanwhole-exome sequencing

𝕏 PostBluesky