Author

Elisabeth M. Lodder

Amsterdam UMC Location University of AmsterdamORCID 0000-0001-6017-3796Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Connie R. BezzinaiD· 3 shared Arie O. VerkerkiD· 2 shared Arthur A.M. WildeiD· 2 shared Imke ChristiaansiD· 2 shared Leander BeekmaniD· 2 shared Mona AlloubaiD· 2 shared Yasmine AguibiD· 2 shared Aafke A J Lommerse· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Connie R. BezzinaORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

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

GeneticsHuman Molecular GeneticsPeer-reviewedOct 19, 2022

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Jaël S. Copier, Marianne Bootsma, Chai‐Ann Ng…·Elisabeth M. Lodder

The paper reclassifies a variant in KCNH2 as a low penetrant likely pathogenic variant for LQTS2 based on biophysical effects and clinical variability.

6 citations

humanexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJan 26, 2021

The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases

Francesco Mazzarotto, Megan H. Hawley, Matteo Beltrami…·Roddy Walsh

This study identifies genetic overlaps and distinct variant classes in LVNC compared to DCM and HCM, revealing both shared and unique genetic mechanisms.

85 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky