Author

Sigrid M. A. Swagemakers

Erasmus MC

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Herbert M. LachmaniD· 2 shared Janet L. CunninghamiD· 2 shared Peter J. van der SpekiD· 2 shared Alberto SpaliceiD· 1 shared Allan Schornagel· 1 shared Andreea M. Serban· 1 shared Deyou ZhengiD· 1 shared Erika Pedrosa· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Herbert M. LachmanORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineDevelopmental NeurosciencePeer-reviewedOct 11, 2024

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders

Janet L. Cunningham, Jennifer Frankovich, Robert A. Dubin…·Herbert M. Lachman

The paper reports mutations in DNA damage repair genes in patients with acute psychiatric symptoms or regression, suggesting a link between DNA repair defects and inflammatory brain conditions.

11 citations

human

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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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