Author

Grazia Annesi

Magna Graecia UniversityORCID 0000-0001-9951-8798Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Research Focus:host-pathogen & immune response· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Monica GagliardiiD· 2 shared Ahmad A. BeydouniD· 1 shared Aldo Quattrone· 1 shared Alica M. GoldmaniD· 1 shared Alison AndersoniD· 1 shared Andrew J. ColeiD· 1 shared Angela Lupo· 1 shared Annika B. FauconiD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Monica GagliardiORCID

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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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Cell BiologybioRxivPreprintMay 30, 2018

Intracellular FMRpolyG-HSP70 complex: Possible use as biochemical marker of Fragile X Tremor Ataxia Syndrome

Giuseppe Bonapace, Rosa Gullace, Daniela Concolino…·Aldo Quattrone

DOI 10.1101/278416

humanproteomics

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