Author

Penny J. Norsworthy

MRC Prion UnitORCID 0000-0002-5572-8491Unclaimed 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 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:whole-exome sequencing· 2 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Holger HummerichiD· 3 shared Afina Willemina LemstraiD· 2 shared Alberto LleóiD· 2 shared Alun Meggy· 2 shared Amit KawaliaiD· 2 shared Anne-Claire Richard· 2 shared Antonio DanieleiD· 2 shared Benedetta NacmiasiD· 2 shared

Activity by Year

2022-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Holger HummerichORCID

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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

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

Carolin Koriath, Fernando Guntoro, Penny J. Norsworthy, Egor Dolzhenko, Michael A. Eberle, Davina J. Hensman Moss, Michael D. Flower, Holger Hummerich, Anne Rosser, Sarah J. Tabrizi, Simon Mead, Edward J. Wild

This study estimates the prevalence of HD phenocopy syndromes, finds clinical distinctions are difficult, and uses whole-genome sequencing to identify one ATXN1 expansion in a subcohort.

Journal of Neurology Neurosurgery & Psychiatry · Oct 23, 2024Peer-reviewedGenetics

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