Author

Barbara Castellotti

Fondazione IRCCS Istituto Neurologico Carlo BestaORCID 0000-0002-9098-3041Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Elena FreriiD· 2 shared Francesca BisulliiD· 2 shared Gianpiero L. CavalleriiD· 2 shared Laura CanafogliaiD· 2 shared Simona BalestriniiD· 2 shared Ahmad A. BeydouniD· 1 shared Alica M. GoldmaniD· 1 shared Alison AndersoniD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Elena FreriORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 28, 2026

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

Joohyun Park, Zakaria Eddafir, Josua Kegele…·Holger Lerche

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

DOI 10.64898/2026.10.26.26365902

humanwhole-genome sequencing

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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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