Author

Elena Freri

Fondazione IRCCS Istituto Neurologico Carlo BestaORCID 0000-0002-2293-8687Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Barbara CastellottiiD· 2 shared Elena ParriniiD· 2 shared Francesca BisulliiD· 2 shared Gianpiero L. CavalleriiD· 2 shared Laura CanafogliaiD· 2 shared Renzo GuerriniiD· 2 shared Simona BalestriniiD· 2 shared Ahmad A. BeydouniD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 34 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Barbara CastellottiORCID

Mutual co-authors in cluster

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3 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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NeurosciencebioRxivPreprintMay 25, 2021

Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

Martina Riva, Sofia Ferreira, Vera P. Medvedeva…·Alessandra Pierani

This study functionally characterizes RELN missense mutations in both recessive and dominant neuronal migration disorders, showing a genotype-phenotype correlation.

6 citations

mouseexperimental assay

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