Author

Pieter Gerard Postema

Amsterdam UMC Location University of AmsterdamORCID 0000-0003-2863-9159Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Arthur A.M. WildeiD· 3 shared Connie R. BezzinaiD· 3 shared Karel van DuijvenbodeniD· 3 shared Leander BeekmaniD· 3 shared Rafik TadrosiD· 3 shared Ahmad S. AminiD· 2 shared Andrew A. GraceiD· 2 shared Apichai KhongphatthanayothiniD· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Arthur A.M. WildeORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 10, 2026

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

Alex Lipov, Manon Baudic, Pierre Lindenbaum…·Connie R. Bezzina

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

DOI 10.64898/2026.07.07.26356386

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineCirculationPeer-reviewedOct 11, 2024

A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand

Roddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli…·Apichai Khongphatthanayothin

The paper identifies a rare non-coding enhancer variant in SCN5A associated with Brugada syndrome in Thailand, showing it disrupts a transcription factor binding site and reduces sodium current.

17 citationstop 3%

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJul 4, 2024

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Michele Nicastro, Alexa M.C. Vermeer, Pieter Gerard Postema…·Najim Lahrouchi

DOI 10.1101/2024.07.04.24309755

humanbulk RNA-seq

𝕏 PostBluesky