Author

Olivia R. Manusama

Erasmus MCORCID 0000-0002-7320-2725Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 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 Aleksandra BaduraiD· 1 shared Allan Schornagel· 1 shared Andreea M. Serban· 1 shared Christian van der ZalmiD· 1 shared Deyou ZhengiD· 1 shared Fabian M. P. KaiseriD· 1 shared Hanna IJspeertiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alberto SpaliceORCID

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2 papers

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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NeuroscienceBrain Behavior & Immunity - HealthPeer-reviewedOct 20, 2021

Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model.

Ines Serra, Olivia R. Manusama, Fabian M. P. Kaiser…·Aleksandra Badura

This study investigates neurodevelopmental deficits in activated PI3Kδ syndrome (APDS) using patient assessments and a murine model, showing visuomotor and motor impairments linked to PIK3CD mutations.

16 citations

mouseexperimental assay

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