Associated Papers
Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
de Rojas I et al.
Alzheimer's Research & Therapy, 2025
41088469 (PubMed )
Supplement: 13195_2025_1854_MOESM2_ESM.xlsx › SuppTable2
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_MOESM4_ESM.xlsx › Supplementary_Data_2
Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.
Pillai J et al.
Computational and Structural Biotechnology Journal, 2025
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-15.xlsx › Supplementary_Table_2
Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.
Dash R et al.
Scientific Reports, 2022
TREM2 coding variants in Slovak Alzheimer's disease patients.
Durmanova V et al.
Journal of Integrative Neuroscience, 2022
Genomics of Alzheimer's disease implicates the innate and adaptive immune systems.
Li Y et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement.
Ng ASL et al.
Neurobiology of Aging, 2018
Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression.
Sirkis DW et al.
Acta Neuropathologica Communications, 2016
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