Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Nicolas G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.
Bossaerts L et al.
Acta Neuropathologica Communications, 2022
35361255 (PubMed )
Supplement: 40478_2022_1346_MOESM1_ESM.docx
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S2
ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.
Cukier HN et al.
Neurology. Genetics, 2016
Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans.
Del-Aguila JL et al.
Alzheimer's Research & Therapy, 2015
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.
Steinberg S et al.
Nature Genetics, 2015
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