List of works - Andrew Singleton

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

scientific article published in June 2007

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

scientific article

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease

scientific article

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry

scientific article

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

The genetics of Parkinson's disease: Progress and therapeutic implications

scientific article published on January 1, 2013

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

scientific article published in The Lancet

Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals

scientific article

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

scientific article published on 14 April 2013

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

Targeting α-synuclein for treatment of Parkinson's disease: mechanistic and therapeutic considerations

scientific article published on 03 June 2015

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

scientific journal article

Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations

scientific article

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

scientific article published on 28 February 2019

The genetics and neuropathology of Parkinson's disease

scientific article

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

scientific article

Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance

scientific article published on April 18, 2016

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

scientific article published on September 2010

GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy

scientific article

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

scientific article

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scientific article published on 13 August 2012

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

scientific article

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

article

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study

scientific article published on 29 January 2009

Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing

scientific article

Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study

scientific article published in January 2008

A genome-wide association study of depressive symptoms

scientific journal article

Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes

scientific article

Menopause accelerates biological aging

scientific article

Genome-wide association study confirms extant PD risk loci among the Dutch

scientific article

Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

scientific article

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

scientific article

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Repeat expansion in C9ORF72 in Alzheimer's disease

scientific article

Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

scientific article

Novel genetic loci underlying human intracranial volume identified through genome-wide association

scientific article (publication date: 3 October 2016)

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations

scientific article

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

scientific article

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

scientific article

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

scientific article

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

scientific article

Parkinson's disease and α-synuclein expression

scientific article

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

scientific article

Multiple loci are associated with white blood cell phenotypes

scientific article

DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases

scientific article published on 12 December 2016

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

article

List of works by Andrew Singleton

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

The genetics of Parkinson's disease: Progress and therapeutic implications

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

Targeting α-synuclein for treatment of Parkinson's disease: mechanistic and therapeutic considerations

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations

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

The genetics and neuropathology of Parkinson's disease

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

Frontotemporal dementia and its subtypes: a genome-wide association study

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

A genome-wide association search for type 2 diabetes genes in African Americans

Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study

Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing

Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study

A genome-wide association study of depressive symptoms

Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes

Menopause accelerates biological aging

Genome-wide association study confirms extant PD risk loci among the Dutch

Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Repeat expansion in C9ORF72 in Alzheimer's disease

Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Parkinson's disease and α-synuclein expression

Novel genetic loci associated with hippocampal volume

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Multiple loci are associated with white blood cell phenotypes

DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study