Author

Margot A. Cousin

Mayo ClinicORCID 0000-0002-6119-9346Unclaimed ORCID profile · follow to get notified of new preprints

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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 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 Audrey SchalkiD· 1 shared

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2021-2021 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

A. Micheil InnesORCID

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1 paper

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