Author

Alun Meggy

Cardiff University

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:GWAS / association mapping· 3 Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Afina Willemina LemstraiD· 3 shared Alberto LleóiD· 3 shared Amit KawaliaiD· 3 shared Antonio DanieleiD· 3 shared Benedetta NacmiasiD· 3 shared Benjamin Grenier‐BoleyiD· 3 shared Betty Marije TijmsiD· 3 shared Carlo MasulloiD· 3 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Afina Willemina LemstraORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

Olivier Quenez, Catherine Schramm, Kévin Cassinari, Aude Nicolas, Joan Groeneveld, Guillaume Huguet, Benjamin Grenier‐Boley, Marc Hulsman, G. Bragi Walters, Itziar de Rojas, Anne Rovelet-Lecrux, Sébastien Feuillette, Laetitia Miguel, Anne-Claire Richard, Stéphane Rousseau, , Betty Marije Tijms

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

medRxiv · Oct 28, 2024 · PreprintGenetic & Genomic Medicine

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

Henne H. Holstege, Matthijs W. J. de Waal, Niccoló Tesi, Sven J. van der Lee, Christa M. de Geus, Rosalina M.L. van Spaendonk, Maartje J. Vogel, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W. Beecham, Céline Bellenguez, Claudine Berr, Joshua C. Bis, Anne Boland, , Jennifer S. Yokoyama

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

medRxiv · Jul 13, 2023 · PreprintGenetic & Genomic Medicine

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

Henne H. Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier‐Boley, Olivier Quenez, Detelina Grozeva, Jeroen van Rooij, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Penny J. Norsworthy, Oriol Dols‐Icardo, Holger Hummerich, Amit Kawalia, Alzheimer's Disease Neuroimaging Initiative Database, , John Hardy

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

Nature Genetics · Nov 21, 2022Peer-reviewedGenetic & Genomic Medicine