Author

Pietro Chiurazzi

Università Cattolica del Sacro CuoreORCID 0000-0001-5104-1521Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alberto SpaliceiD· 1 shared Allan Schornagel· 1 shared Andreea M. Serban· 1 shared Deyou ZhengiD· 1 shared Herbert M. LachmaniD· 1 shared Janet L. CunninghamiD· 1 shared Olivia R. ManusamaiD· 1 shared Peter J. van der SpekiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alberto SpaliceORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineScientific ReportsPeer-reviewedJun 30, 2022

Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencing

Rosario Rich Trifiletti, Herbert M. Lachman, Olivia R. Manusama…·Peter J. van der Spek

This study identifies ultra-rare genetic variants in PANS patients through exome and whole genome sequencing, revealing candidate genes involved in both immune and neuronal pathways.

37 citationstop 4%

humanwhole-exome sequencing

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