Associated Papers
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
The Alzheimer's Disease Risk Gene CD2AP Functions in Dendritic Spines by Remodeling F-Actin.
Mirfakhar FS et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
Nandlal L et al.
European Journal of Pediatrics, 2022
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.
Abramovs N et al.
Frontiers in Genetics, 2020
32231685 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_1
cindr, the Drosophila Homolog of the CD2AP Alzheimer's Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis.
Ojelade SA et al.
Cell Reports, 2019
ABCA7 p.G215S as potential protective factor for Alzheimer's disease.
Sassi C et al.
Neurobiology of Aging, 2016
Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.
Vardarajan BN et al.
Annals of Neurology, 2015
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