Author

Claudia Bianchini

Meyer Children's HospitalORCID 0000-0002-7144-785XUnclaimed 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

Mark J. DalyiD· 2 shared Ahmad A. BeydouniD· 1 shared Alica M. GoldmaniD· 1 shared Alison AndersoniD· 1 shared Andrew J. ColeiD· 1 shared Annika B. FauconiD· 1 shared Antonio GambardellaiD· 1 shared Barbara CastellottiiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Mark J. DalyORCID

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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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GeneticsGenetics in MedicinePeer-reviewedMay 6, 2019

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

Henrike Heyne, Mykyta Artomov, Florian Battke…·Johannes R. Lemke

The paper analyzes genetic variants in 6,994 individuals with neurodevelopmental disorder with epilepsy to assess diagnostic yield and identify ultra-rare variants in associated genes.

65 citationstop 2%

humanwhole-exome sequencing

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