Author

Alberta A. H. J. Thiadens

Erasmus MCORCID 0000-0002-4911-9462Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 5 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 6 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Assay:GWAS summary statistics· 2 Assay:imaging· 2 Research Focus:variant calling· 2 Approach:deep learning· 1 Approach:experimental assay· 1

Frequent Co-Authors

Caroline C. W. KlaveriD· 5 shared Alex William HewittiD· 4 shared Anthony P. KhawajaiD· 4 shared Christopher J. HammondiD· 4 shared David Anthony MackeyiD· 4 shared Jamie E. CraigiD· 4 shared Janey L. WiggsiD· 4 shared Louis Robert PasqualeiD· 4 shared

Activity by Year

2020-2026 · peak 3/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

Caroline C. W. KlaverORCID

Mutual co-authors in cluster

Author profile →

6 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 28, 2026

A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases

Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman…·Susanne Roosing

This paper reanalyzes short-read WGS data and applies long-read WGS to improve genetic diagnosis of inherited retinal disease cases that were previously unresolved.

DOI 10.64898/2026.09.23.26363559

humanwhole-genome sequencing

Genetic & Genomic MedicinemedRxivPreprintSep 10, 2026

Genetic discovery using deep learning-derived optic nerve integrity phenotypes

Asma M. Aman, Eslam Zaher, Santiago Díaz‐Torres…·Puya Gharahkhani

The paper uses AI-derived retinal thickness phenotypes from 2D images to identify novel genetic loci for neurodegenerative diseases.

DOI 10.64898/2026.09.08.26362398

humanimaging

Genetic & Genomic MedicinemedRxivPreprintFeb 10, 2026

Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses

Asma M. Aman, Santiago Díaz‐Torres, Samantha Sze‐Yee Lee…·Puya Gharahkhani

This study performs genome-wide association meta-analyses on optic nerve structure biomarkers, identifying novel loci and potential drug targets independent of intraocular pressure.

1 citation

humanGWAS summary statistics

Genetic & Genomic MedicineFrontiers in Cell and Developmental BiologyPeer-reviewedFeb 3, 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes…·Susanne Roosing

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

29 citations

humanwhole-exome sequencing

Genetic & Genomic MedicinePLoS GeneticsPeer-reviewedMay 12, 2021

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank Optical Coherence Tomography images

Hannah Currant, Pirro G. Hysi, Tomas W. Fitzgerald…·Anthony P. Khawaja

The paper identifies 46 genetic loci associated with retinal thickness using OCT images from UK Biobank, finding new links to foveal hypoplasia and visual acuity.

116 citationstop 1%

humanimaging

GeneticsbioRxivPreprintJan 30, 2020

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease

Puya Gharahkhani, Eric Jorgenson, Pirro G. Hysi…·Janey L. Wiggs

15 citations

humanGWAS summary statistics