Rachel Raybould

Heath Park
Cardiff, WLS, United Kingdom

Last Updated: 09/26/2026

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Found 17 publications

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Journal: American journal of human genetics

Published: April 20, 2026

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Journal: Molecular neurodegeneration

Published: February 20, 2025

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Journal: Nature genetics

Published: July 31, 2021

Evidence against altered excitatory/inhibitory balance in the posteromedial cortex of young adult APOE E4 carriers: A resting state 1H-MRS study.

Evidence against altered excitatory/inhibitory balance in the posteromedial cortex of young adult APOE E4 carriers: A resting state 1H-MRS study.

Journal: Neuroimage. Reports

Published: May 06, 2021

Searching the Dark Genome for Alzheimer's Disease Risk Variants.

Searching the Dark Genome for Alzheimer's Disease Risk Variants.

Journal: Brain sciences

Published: February 10, 2021

Single-Nucleus RNA Sequencing Identifies New Classes of Proximal Tubular Epithelial Cells in Kidney Fibrosis.

Single-Nucleus RNA Sequencing Identifies New Classes of Proximal Tubular Epithelial Cells in Kidney Fibrosis.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 08, 2020

Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease.

Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease.

Journal: Acta neuropathologica

Published: July 10, 2020

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Journal: Nature genetics

Published: August 17, 2019

Psychological stress, cognitive decline and the development of dementia in amnestic mild cognitive impairment.

Psychological stress, cognitive decline and the development of dementia in amnestic mild cognitive impairment.

Journal: Scientific reports

Published: July 19, 2019

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Journal: Nature genetics

Published: March 12, 2018

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.

Journal: Molecular psychiatry

Published: January 26, 2018

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Journal: Nature genetics

Published: July 01, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026