Author

Christelle Moufawad El Achkar

Boston Children's HospitalORCID 0000-0003-0497-8172Unclaimed 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 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Eva H. BrilstraiD· 2 shared A. Micheil InnesiD· 1 shared Alice GoldenbergiD· 1 shared Alicia Guemez‐GamboaiD· 1 shared Alison M. MuiriD· 1 shared Amélie PitoniD· 1 shared Amy Dameron· 1 shared Amy SchneideriD· 1 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetics

Eva H. BrilstraORCID

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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

GeneticsAnnals of NeurologyPeer-reviewedJun 29, 2021

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Egidio Spinelli, Kyle R. Christensen, Emily M. Bryant…·Gemma L. Carvill

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

19 citations

humanwhole-exome sequencing

𝕏 PostBluesky