Author

Carmen Barba

Meyer Children's HospitalORCID 0000-0001-5445-5842Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ahmad A. BeydouniD· 1 shared Alica M. GoldmaniD· 1 shared Alicia Guemez‐GamboaiD· 1 shared Alison AndersoniD· 1 shared Alison M. MuiriD· 1 shared Amy SchneideriD· 1 shared Andrew J. ColeiD· 1 shared Angus Clark NairniD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmad A. BeydounORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature NeurosciencePeer-reviewedOct 1, 2024

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Epi25 Collaborative, Siwei Chen, Bassel W Abou-Khalil…·Alica M. Goldman

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

72 citationstop 1%

humanwhole-exome sequencing

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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