Brian Fulton‐Howard
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View article: Cortical asymmetry in autosomal dominant Alzheimer’s disease progression
Cortical asymmetry in autosomal dominant Alzheimer’s disease progression Open
The Cortical Asymmetry Index (CAI) evaluates the cortical thickness asymmetry between hemispheres. We investigated CAI in asymptomatic (AMC) and symptomatic (SMC) mutation carriers of Autosomal Dominant Alzheimer’s Disease (ADAD) to explor…
View article: The role of genomic‐informed risk assessments in predicting dementia outcomes
The role of genomic‐informed risk assessments in predicting dementia outcomes Open
INTRODUCTION By integrating genetic and clinical risk factors into genomic‐informed dementia risk reports, healthcare providers can offer patients detailed risk profiles to facilitate understanding of individual risk and support the implem…
View article: Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer’s Disease Risk Prediction in Multiethnic Cohorts
Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer’s Disease Risk Prediction in Multiethnic Cohorts Open
INTRODUCTION Genome-wide association studies (GWAS) have identified 80+ genetic loci associated with Alzheimer’s disease (AD), enabling the development of polygenic risk scores (PRS). However, the predictive accuracy of PRS in diverse popu…
View article: Genome-wide association study of long COVID
Genome-wide association study of long COVID Open
Infections can lead to persistent symptoms and diseases such as shingles after varicella zoster or rheumatic fever after streptococcal infections. Similarly, severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection can result…
View article: Ancestry‐specific effects of <i>APOE</i> on AD endophenotypes and modifiable risk factors
Ancestry‐specific effects of <i>APOE</i> on AD endophenotypes and modifiable risk factors Open
Background APOE is highly pleiotropic, with the e4 allele the strongest genetic risk factor for late‐onset Alzheimer’s disease (AD) and associated with other cardiometabolic traits. The APOE *e4 allele demonstrates ancestry‐specific differ…
View article: Leveraging a Novel Phenotype to Identify Complex Traits and Biological Pathways Associated with Resilience to Alzheimer’s Disease
Leveraging a Novel Phenotype to Identify Complex Traits and Biological Pathways Associated with Resilience to Alzheimer’s Disease Open
Background Previous models of resilience to Alzheimer’s Disease (AD) have relied on cross‐sectional designs and inclusion of measures of neuropathology. Here, we present a novel modeling approach incorporating longitudinal data and the use…
View article: Evaluating the Impact of Combined Clinical and Genetic Risk Factors on Dementia Onset
Evaluating the Impact of Combined Clinical and Genetic Risk Factors on Dementia Onset Open
Background Integrating clinical and genetic risk factors for dementia in a precision medicine framework can play a crucial role in primary prevention. Here, we ascertained the proportion of individuals who are at heightened risk of develop…
View article: Development of MAPT S305 mutation human iPSC lines exhibiting elevated 4R tau expression and functional alterations in neurons and astrocytes
Development of MAPT S305 mutation human iPSC lines exhibiting elevated 4R tau expression and functional alterations in neurons and astrocytes Open
Due to the importance of 4R tau (with four microtubule-binding-repeat domains) in the pathogenicity of primary tauopathies, it has been challenging to model these diseases in induced pluripotent stem cell (iPSC)-derived neurons, which expr…
View article: Dementia risk scores, <i>apolipoprotein E</i>, and risk of Alzheimer's disease: One size does not fit all
Dementia risk scores, <i>apolipoprotein E</i>, and risk of Alzheimer's disease: One size does not fit all Open
INTRODUCTION Evaluating the generalizability of dementia risk scores, primarily developed in non‐Latinx White (NLW) participants, and interactions with genetic risk factors in diverse populations is crucial for addressing health disparitie…
View article: The Role of Genomic-Informed Risk Assessments in Predicting Dementia Outcomes
The Role of Genomic-Informed Risk Assessments in Predicting Dementia Outcomes Open
Introduction By integrating genetic and clinical risk factors into genomic-informed dementia risk reports, healthcare providers can offer patients detailed risk profiles to facilitate understanding of individual risk and support the implem…
View article: Dementia Risk Scores,<i>APOE,</i>and risk of Alzheimer disease: one size does not fit all
Dementia Risk Scores,<i>APOE,</i>and risk of Alzheimer disease: one size does not fit all Open
Introduction Evaluating the generalizability of dementia risk scores, primarily developed in non-Latinx White (NLW) participants, and interactions with genetic risk factors in diverse populations is crucial for addressing health disparitie…
View article: Sex‐specific effects of genetically predicted BMI and education on risk of AD
Sex‐specific effects of genetically predicted BMI and education on risk of AD Open
Background Examining sex differences on the impact of modifiable risk factors in Alzheimer’s disease (AD) risk can help us better understand the mechanisms underlying sex differences in the prevalence and incidence of AD. Here, we used pol…
View article: Examining the Interactive Effect of Cardiovascular Risk Factors and APOE Genotype on Population Health Disparities in dementia risk
Examining the Interactive Effect of Cardiovascular Risk Factors and APOE Genotype on Population Health Disparities in dementia risk Open
Background There is a need to better understand the role of modifiable risk factors in the development of racial/ethnic health disparities in Alzheimer’s disease (AD). In particular, research is lacking on how clinical risk scores may inte…
View article: Genome‐Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the <i>CETP</i> Gene
Genome‐Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the <i>CETP</i> Gene Open
Background The risk of atherosclerotic cardiovascular disease (ASCVD) increases sharply with age. Some older individuals, however, remain unaffected despite high predicted risk. These individuals may carry cardioprotective genetic variants…
View article: Genome-wide Association Study of Long COVID
Genome-wide Association Study of Long COVID Open
Summary Infections can lead to persistent or long-term symptoms and diseases such as shingles after varicella zoster, cancers after human papillomavirus, or rheumatic fever after streptococcal infections 1, 2 . Similarly, infection by SARS…
View article: Genetic associations with age at dementia onset in the <i>PSEN1 E280A</i> Colombian kindred
Genetic associations with age at dementia onset in the <i>PSEN1 E280A</i> Colombian kindred Open
INTRODUCTION Genetic associations with Alzheimer's disease (AD) age at onset (AAO) could reveal genetic variants with therapeutic applications. We present a large Colombian kindred with autosomal dominant AD (ADAD) as a unique opportunity …
View article: The complex genetic architecture of Alzheimer's disease: novel insights and future directions
The complex genetic architecture of Alzheimer's disease: novel insights and future directions Open
Two new AD/dementia GWAS have dramatically expanded the sample sizes and the number of disease susceptibility loci. The first increased total sample size to 1,126,563-with an effective sample size of 332,376-by predominantly including new …
View article: Genome-wide association study and functional validation implicates JADE1 in tauopathy
Genome-wide association study and functional validation implicates JADE1 in tauopathy Open
Primary age-related tauopathy (PART) is a neurodegenerative pathology with features distinct from but also overlapping with Alzheimer disease (AD). While both exhibit Alzheimer-type temporal lobe neurofibrillary degeneration alongside amne…
View article: Genome-wide association study and functional validation implicates JADE1 in tauopathy
Genome-wide association study and functional validation implicates JADE1 in tauopathy Open
Primary age-related tauopathy (PART) is a neurodegenerative tauopathy with features distinct from but also overlapping with Alzheimer disease (AD). While both exhibit Alzheimer-type temporal lobe neurofibrillary degeneration alongside amne…
View article: Genome-Wide Meta-Analysis of Late-Onset Alzheimer’s Disease Using Rare Variant Imputation in 65,602 Subjects Identifies Novel Rare Variant Locus <i>NCK2</i>: The International Genomics of Alzheimer’s Project (IGAP)
Genome-Wide Meta-Analysis of Late-Onset Alzheimer’s Disease Using Rare Variant Imputation in 65,602 Subjects Identifies Novel Rare Variant Locus <i>NCK2</i>: The International Genomics of Alzheimer’s Project (IGAP) Open
Risk for late-onset Alzheimer’s disease (LOAD) is driven by multiple loci primarily identified by genome-wide association studies, many of which are common variants with minor allele frequencies (MAF)> 0.01. To identify additional common a…
View article: Polygenic score modifies risk for Alzheimer's disease in <i>APOE</i> ε4 homozygotes at phenotypic extremes
Polygenic score modifies risk for Alzheimer's disease in <i>APOE</i> ε4 homozygotes at phenotypic extremes Open
Introduction Diversity in cognition among apolipoprotein E ( APOE ) ε4 homozygotes can range from early‐onset Alzheimer's disease (AD) to a lifetime with no symptoms. Methods We evaluated a phenotypic extreme polygenic risk score (PRS) for…
View article: Additional file 2 of A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants
Additional file 2 of A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants Open
Additional file 2. Supplementary tables. Includes sequence IDs, geographic provenance data, haplogroup assignment summaries, and statistical test results.
View article: Genome‐wide meta‐analysis of late‐onset Alzheimer’s disease using rare variant imputation in 65,602 subjects identifies risk loci with roles in memory, neurodevelopment, and cardiometabolic traits: The international genomics of Alzheimer’s project (IGAP)
Genome‐wide meta‐analysis of late‐onset Alzheimer’s disease using rare variant imputation in 65,602 subjects identifies risk loci with roles in memory, neurodevelopment, and cardiometabolic traits: The international genomics of Alzheimer’s project (IGAP) Open
Background Recent meta‐analyses of genome‐wide association studies (GWAS) have identified ∼30 susceptibility LOAD loci in addition to APOE , however the majority are common variants (minor allele frequency (MAF)>0.02). We used the dense, h…
View article: Causal Associations Between Modifiable Risk Factors and the Alzheimer's Phenome
Causal Associations Between Modifiable Risk Factors and the Alzheimer's Phenome Open
Objective The purpose of this study was to infer causal relationships between 22 previously reported risk factors for Alzheimer's disease (AD) and the “AD phenome”: AD, AD age of onset (AAOS), hippocampal volume, cortical surface area and …
View article: Genetic Associations with Age at Dementia Onset in the<i>PSEN1 E280A</i>Colombian Kindred
Genetic Associations with Age at Dementia Onset in the<i>PSEN1 E280A</i>Colombian Kindred Open
INTRODUCTION Genetic associations with Alzheimer’s disease (AD) age at onset (AAO) could reveal genetic variants with therapeutic applications. We present a large Colombian kindred with autosomal dominant AD (ADAD) as a unique opportunity …
View article: Greater Effect of Polygenic Risk Score for Alzheimer’s Disease Among Younger Cases who are Apolipoprotein E-ε4 Carriers
Greater Effect of Polygenic Risk Score for Alzheimer’s Disease Among Younger Cases who are Apolipoprotein E-ε4 Carriers Open
To evaluate how age and Apolipoprotein E-ε4 ( APOE4) status interact with APOE- independent polygenic risk score (PRS non-APOE ), we estimated PRS non-APOE in superagers (age ≥ 90 years, N=346), 89- controls (age 60-89, N=2,930) and Alzhei…