List of works - Jorge L Del-Aguila

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

scientific article published on 19 June 2017

A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

scientific article published on 09 August 2019

Alzheimer's disease: rare variants with large effect sizes

scientific article published on 22 August 2015

An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations

scientific article published on 07 October 2019

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease

scientific article published in November 2017

ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy

scientific article published on 20 September 2017

Ascertaining perturbations in microglial expression profiles using single‐nuclei RNA‐seq from human brains

scientific article published in 2020

Assessment of the Genetic Architecture of Alzheimer's Disease Risk in Rate of Memory Decline.

scientific article published in January 2018

Association of KCNJ1 variation with change in fasting glucose and new onset diabetes during HCTZ treatment ⬇️

scientific article published on August 21, 2012

Chi3l1/YKL-40 is controlled by the astrocyte circadian clock and regulates neuroinflammation and Alzheimer's disease pathogenesis

scientific article published on 01 December 2020

Chitinase-3-like 1 protein (CHI3L1) locus influences cerebrospinal fluid levels of YKL-40.

scientific article

Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.

scientific article published on 4 April 2018

Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes

scientific article published on 04 September 2020

Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits.

scientific article

Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

scientific article published on 8 June 2018

Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans ⬇️

scientific article published on February 12, 2013

Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels

scientific article published on 28 August 2018

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers

scientific article published on 28 February 2017

Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging

scientific article published on 25 October 2018

Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways

scientific article published on 23 June 2020

Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP

scientific article published on 13 December 2018

Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels.

scientific article published on 15 November 2017

Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms.

scientific article

Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans

scientific article

SORL1 variants across Alzheimer's disease European American cohorts

scientific article published on 21 September 2016

Sex-specific genetic predictors of Alzheimer's disease biomarkers

scientific article published on 02 July 2018

Single‐nuclei RNA‐seq of brains carriers of high‐risk variants and Mendelian mutations

scientific article published in 2020

TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers

scientific article published on 08 May 2019

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk

scientific article published on 01 August 2019

The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion

scientific article published on 27 August 2019

List of works by Jorge L Del-Aguila

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

Alzheimer's disease: rare variants with large effect sizes

An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease

ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy

Ascertaining perturbations in microglial expression profiles using single‐nuclei RNA‐seq from human brains

Assessment of the Genetic Architecture of Alzheimer's Disease Risk in Rate of Memory Decline.

Association of KCNJ1 variation with change in fasting glucose and new onset diabetes during HCTZ treatment ⬇️

Chi3l1/YKL-40 is controlled by the astrocyte circadian clock and regulates neuroinflammation and Alzheimer's disease pathogenesis

Chitinase-3-like 1 protein (CHI3L1) locus influences cerebrospinal fluid levels of YKL-40.

Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.

Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes

Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits.

Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans ⬇️

Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers

Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging

Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways

Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP

Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels.

Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms.

Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans

SORL1 variants across Alzheimer's disease European American cohorts

Sex-specific genetic predictors of Alzheimer's disease biomarkers

Single‐nuclei RNA‐seq of brains carriers of high‐risk variants and Mendelian mutations

TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk

The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion