Lista de obras - John P Budde - Dominio Público Uruguay

A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9

artículo científico publicado en 2007

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.

artículo científico publicado en 2017

A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53

artículo científico publicado en 2012

A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks

scientific journal article

A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence

artículo científico publicado en 2008

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease

artículo científico publicado en 2017

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

artículo científico publicado en 2018

CHRM2, parental monitoring, and adolescent externalizing behavior: evidence for gene-environment interaction

artículo científico publicado en 2011

CYP2A6 metabolism in the development of smoking behaviors in young adults

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry

artículo científico publicado en 2013

Correction to: Overlapping genetic architecture between Parkinson disease and melanoma

scientific article published on 14 March 2020

Differential susceptibility to adolescent externalizing trajectories: examining the interplay between CHRM2 and peer group antisocial behavior

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome

artículo científico publicado en 2004

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

artículo científico publicado en 2020

Exome-wide rare variant analysis in familial essential tremor

scientific article published on 24 November 2020

Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1.

artículo científico publicado en 2007

Functional Variants in TAS2R38 and TAS2R16 Influence Alcohol Consumption in High-Risk Families of African-American Origin

article

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

artículo científico publicado en 2020

Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

artículo científico

Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families

scientific journal article

Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders

artículo científico publicado en 2021

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

artículo científico publicado en 2006

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

artículo científico publicado en 2018

Long runs of homozygosity are associated with Alzheimer's disease

artículo científico publicado en 2021

MAOA-uVNTR and early physical discipline interact to influence delinquent behavior

artículo científico publicado en 2009

Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke

artículo científico publicado en 2020

Overlap in the Genetic Architecture of Stroke Risk, Early Neurological Changes, and Cardiovascular Risk Factors.

artículo científico publicado en 2019

Overlapping genetic architecture between Parkinson disease and melanoma

scientific article published on 16 December 2019

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

artículo científico publicado en 2017

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

artículo científico publicado en 2014

Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence

scientific article published on 20 September 2013

Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.

scientific article published on 14 May 2009

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

artículo científico publicado en 2015

Role of GABRA2 in trajectories of externalizing behavior across development and evidence of moderation by parental monitoring

artículo científico publicado en 2009

SORL1 variants across Alzheimer's disease European American cohorts

artículo científico publicado en 2016

Sex-specific genetic predictors of Alzheimer's disease biomarkers

artículo científico publicado en 2018

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

artículo científico publicado en 2019

The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans

artículo científico publicado en 2009

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

Using dimensional models of externalizing psychopathology to aid in gene identification

artículo científico publicado en 2008

Variants in nicotinic receptors and risk for nicotine dependence

artículo científico publicado en 2008

Variants located upstream of CHRNB4 on chromosome 15q25.1 are associated with age at onset of daily smoking and habitual smoking

artículo científico publicado en 2012

Lista de obras de John P Budde

A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9

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 genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53

A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks

A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence

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

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

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

CHRM2, parental monitoring, and adolescent externalizing behavior: evidence for gene-environment interaction

CYP2A6 metabolism in the development of smoking behaviors in young adults

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

Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry

Correction to: Overlapping genetic architecture between Parkinson disease and melanoma

Differential susceptibility to adolescent externalizing trajectories: examining the interplay between CHRM2 and peer group antisocial behavior

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

Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome

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

Exome-wide rare variant analysis in familial essential tremor

Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1.

Functional Variants in TAS2R38 and TAS2R16 Influence Alcohol Consumption in High-Risk Families of African-American Origin

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependence

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

Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence

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 borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families

Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

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

Long runs of homozygosity are associated with Alzheimer's disease

MAOA-uVNTR and early physical discipline interact to influence delinquent behavior

Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke

Overlap in the Genetic Architecture of Stroke Risk, Early Neurological Changes, and Cardiovascular Risk Factors.

Overlapping genetic architecture between Parkinson disease and melanoma

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

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

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

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence

Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.

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

Role of GABRA2 in trajectories of externalizing behavior across development and evidence of moderation by parental monitoring

SORL1 variants across Alzheimer's disease European American cohorts

Sex-specific genetic predictors of Alzheimer's disease biomarkers

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

The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans

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

Using dimensional models of externalizing psychopathology to aid in gene identification

Variants in nicotinic receptors and risk for nicotine dependence

Variants located upstream of CHRNB4 on chromosome 15q25.1 are associated with age at onset of daily smoking and habitual smoking