Associated Papers
Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.
Gueuning M et al.
Blood Advances, 2026
41213005 (PubMed )
Supplement: BLOODA_ADV-2025-017463-mmc2.xlsx › Table5
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants
Case Report: Genetic Creutzfeldt-Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia.
Lin X et al.
Frontiers in Neurology, 2022
Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.
Zhang W et al.
Annals of Clinical and Translational Neurology, 2020
32941707 (PubMed )
Supplement: ACN3-7-1985-s003.xlsx › sheet
Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene (PRNP) in Dogs-A Resistant Animal of Prion Disease.
Kim DJ et al.
International Journal of Molecular Sciences, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
Beck JA et al.
Human Mutation, 2010
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