Associated Papers
Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41757160 (PubMed )
Supplement: media-1.xlsx › S2_Rare_variants
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM3_ESM.xlsx › Supplementary_Data_1
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39606324 (PubMed )
Supplement: media-14.xlsx › Supplementary_Table_1
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.
Barel D et al.
Journal of Neurology, 2024
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Koriath C et al.
Molecular Psychiatry, 2020
30279455 (PubMed )
Supplement: 41380_2018_224_MOESM1_ESM.docx
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
Disease-related mutations among Caribbean Hispanics with familial dementia.
Lee JH et al.
Molecular Genetics & Genomic Medicine, 2014
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
Cruchaga C et al.
Plos One, 2012
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