Author

Lydian Knoop

Amsterdam University Medical Centers

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· 3 Neuroscience· 2 Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 7 Approach:statistical model· 7 Research Focus:gene regulatory network inference· 3 Assay:whole-genome sequencing· 3 Research Focus:benchmarking· 2 Approach:experimental assay· 2 Research Focus:fine-mapping· 2 Assay:long-read sequencing· 2

Frequent Co-Authors

Alex SalazariD· 5 shared Henne H. HolstegeiD· 5 shared Jana KřížováiD· 5 shared Marc HulsmaniD· 5 shared Niccoló TesiiD· 5 shared Sanduni Wijesekera· 5 shared Sven J. van der LeeiD· 5 shared Marcel J. T. ReindersiD· 4 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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Curved chords = mutual co-authorship

5 shared papersGenetic & Genomic Medicine

Alex SalazarORCID

Mutual co-authors in cluster

Author profile →

7 papers

Recent·Most cited

Long-read sequencing reveals hidden structural complexity within Alzheimers disease-associated GWAS loci

Niccoló Tesi, Alex Salazar, Gerard A. Bouland, Daniel Álvarez Sirvent, Yaran Zhang, Lydian Knoop, Natasja M. van Schoor, Martijn A. Huisman, Sanduni Wijesekera, Jana Křížová, Betty Marije Tijms, Everard G.B. Vijverberg, ADGC, Bonn, CHARGE, EADB, EADI, FinnGen, GERAD, GR@ACE/DEGESCO, PGC-ALZ, Marc Hulsman, Sven J. van der Lee, , Henne H. Holstege

The paper uses long-read sequencing to uncover structural complexity in Alzheimer's disease GWAS loci, showing that lead SNPs often miss key regulatory variants.

medRxiv · Aug 17, 2026 · PreprintGenetic & Genomic Medicine

MotifScope: a multi-sample motif discovery and visualization tool for tandem repeats

Yaran Zhang, Marc Hulsman, Alex Salazar, Niccoló Tesi, Lydian Knoop, Sven J. van der Lee, Sanduni Wijesekera, Jana Křížová, Erik‐Jan Kamsteeg, Henne H. Holstege

MotifScope identifies and visualizes tandem repeats in population context using a de novo k-mer approach, outperforming existing tools in motif discovery and representation.

Genome Research · Apr 1, 2025Peer-reviewedGenomics

Fine-mapping reveals four TMEM106B haplotypes associated with neurodegenerative risk and preserved cognition at extreme age

Alex Salazar, Niccoló Tesi, Lydian Knoop, Natasja M. van Schoor, Martijn A. Huisman, Betty Marije Tijms, Everard G.B. Vijverberg, Sven J. van der Lee, Sanduni Wijesekera, Jana Křížová, Mikko Hiltunen, Markus Daμμe, Leonard Petrucelli, Marcel J. T. Reinders, Anke A. Dijkstra, , Henne H. Holstege

medRxiv · Feb 2, 2025 · PreprintGenetic & Genomic Medicine

Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter

Niccoló Tesi, Alex Salazar, Yaran Zhang, Sven J. van der Lee, Marc Hulsman, Lydian Knoop, Sanduni Wijesekera, Jana Křížová, Anne-Fleur E. Schneider, Maartje Pennings, Kristel Sleegers, Erik‐Jan Kamsteeg, Marcel J. T. Reinders, Henne H. Holstege

The paper introduces otter and TREAT for accurate tandem repeat genotyping across long-read sequencing platforms, showing improved accuracy and identifying pathogenic expansions and disease associations.

Genome Research · Nov 1, 2024Peer-reviewedBioinformatics

An AluYb8 retrotransposon characterises a risk haplotype of TMEM106B associated in neurodegeneration

Alex Salazar, Niccoló Tesi, Lydian Knoop, Yolande A.L. Pijnenburg, Sven J. van der Lee, Sanduni Wijesekera, Jana Křížová, Mikko O. Hiltunen, Markus Daμμe, Leonard Petrucelli, Marcel J. T. Reinders, Marc Hulsman, Henne H. Holstege

The paper identifies an AluYb8 retrotransposon in a TMEM106B risk haplotype associated with neurodegeneration, linking it to age-related dysregulation and population-specific disease risk.

medRxiv · Jul 16, 2023 · PreprintGenetic & Genomic Medicine

Nigral pathology contributes to microstructural integrity of striatal and frontal tracts in Parkinson's disease

Chen‐Pei Lin, Lydian Knoop, Irene Frigerio, John G. J. M. Bol, Annemieke J.M. Rozemüller, Henk W. Berendse, Petra J. W. Pouwels, Wilma D. J. van de Berg, Laura E. Jonkman

This study uses diffusion MRI and histopathology to show that microstructural changes in the substantia nigra and its tracts in Parkinson's disease correlate with dopaminergic loss and Lewy neurite pathology.

Movement Disorders · Jun 22, 2023Peer-reviewedNeuroscience

Meningeal inflammation in multiple sclerosis induces phenotypic changes in cortical microglia that differentially associate with neurodegeneration

Lynn van Olst, Carla Rodriguez-Mogeda, Carmen Picón, Svenja Kiljan, Rachel James, Alwin Kamermans, Susanne M. A. van der Pol, Lydian Knoop, Iliana Michailidou, Evelien H.G.M. Drost, Marc Franssen, Geert J. Schenk, Jeroen J.G. Geurts, Sandra Amor, Nicholas D. Mazarakis, , Maarten E. Witte

The paper identifies two distinct microglial phenotypes in progressive MS patients and a rat model, showing they differentially associate with neurodegeneration.

Acta Neuropathologica · Mar 29, 2021Peer-reviewedNeuroscience