Associated Papers
Rare ABCA7 mutations in Alzheimer's disease and cerebral amyloid angiopathy pathology.
Hendrickx Van de Craen E et al.
Neurobiology of Aging, 2026
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
ABCA7 variants impact phosphatidylcholine and mitochondria in neurons.
von Maydell D et al.
Nature, 2025
40931065 (PubMed )
Supplement: 41586_2025_9520_MOESM1_ESM.pdf
ABCA7 Loss-of-Function Variants Impact Phosphatidylcholine Metabolism in the Human Brain.
von Maydell D et al.
Biorxiv : the Preprint Server for Biology, 2025
38979214 (PubMed )
Supplement: NIHPP2023.09.05.556135v3-supplement-1.pdf
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
35000612 (PubMed )
Supplement: 13024_2021_505_MOESM1_ESM.docx
Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) beyond SMARCA4 Mutations: A Comprehensive Genomic Analysis.
Auguste A et al.
Cells, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.
Lacour M et al.
Journal of Alzheimer's Disease : Jad, 2019
Rare ABCA7 variants in 2 German families with Alzheimer disease.
May P et al.
Neurology. Genetics, 2018
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A et al.
Acta Neuropathologica, 2017
Input of exome sequencing in early-onset cerebral amyloid angiopathy.
Grangeon L et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 0
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