J. R. Gibbs

发表

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

Sonja W. Scholz, D. Hernandez, A. Singleton, 2006, The Lancet Neurology.

Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease

Sonja W. Scholz, D. Hernandez, M. Nalls, 2009, Nature Genetics.

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, Movement disorders : official journal of the Movement Disorder Society.

The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, bioRxiv.

Genotype, haplotype and copy-number variation in worldwide human populations

Zachary A. Szpiech, Sonja W. Scholz, D. Hernandez, 2008, Nature.

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

Sonja W. Scholz, S. Bandinelli, D. Hernandez, 2009, Human molecular genetics.

Genetic control of human brain transcript expression in Alzheimer disease.

D. Stephan, P. Holmans, A. Myers, 2009, American journal of human genetics.

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Janel O. Johnson, K. Fischbeck, B. Traynor, 2012, Neurology.

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

Erick R. Scott, Michelle K. Lupton, D. Hernandez, 2013, Nature.

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

Mohamad Saad, Peter Holmans, Nicholas W Wood, 2013, Human molecular genetics.

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

David Heckerman, Lorne Zinman, Joanne Wuu, 2011, Neuron.

Use of support vector machines for disease risk prediction in genome‐wide association studies: Concerns and opportunities

Andreas Zell, Andreas Jahn, Mohamad Saad, 2012, Human mutation.

The Parkinson’s Disease GWAS Locus Browser

M. Nalls, A. Singleton, C. Webber, 2020, bioRxiv.

The Parkinson's Disease Genome‐Wide Association Study Locus Browser

M. Nalls, A. Singleton, C. Webber, 2020, Movement disorders : official journal of the Movement Disorder Society.

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

Sonja W. Scholz, Adriano Chiò, Gabriele Mora, 2007, The Lancet Neurology.

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.

Sonja W. Scholz, John Hardy, Mar Matarin, 2007, Human molecular genetics.

Genome-wide association study of Tourette Syndrome

S. E. Stewart, A. Singleton, C. Sabatti, 2012, Molecular Psychiatry.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Demis A. Kia, Miguel Ángel Martínez, 2020, Nature Communications.

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

Henry Houlden, Andrew B Singleton, D. Hernandez, 2013, American journal of human genetics.

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

D. Hernandez, A. Singleton, A. Durr, 2017, Neurodegenerative Diseases.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease

Sonja W. Scholz, A. Singleton, C. Gieger, 2019, bioRxiv.

Parkinson disease age of onset GWAS: defining heritability, genetic loci and a-synuclein mechanisms

Sonja W. Scholz, D. Hernandez, M. Nalls, 2018, bioRxiv.

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

Sonja W. Scholz, Scott Silliman, Carl D Langefeld, 2007, The Lancet Neurology.

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

Albert R. Singleton, S. Arepalli, C. Sassi, 2013, European journal of neurology.

Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy

A. Singleton, S. Arcuti, G. Logroscino, 2017, Alzheimer's & Dementia.

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

Sonja W. Scholz, Lilah M. Besser, Alan J. Thomas, 2020, bioRxiv.

Genome-wide association study of Parkinson’s disease progression biomarkers in 12 longitudinal patients’ cohorts

D. Hernandez, M. Nalls, A. Singleton, 2019, bioRxiv.

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study

D. Hernandez, M. Nalls, A. Singleton, 2017, Neurobiology of Aging.

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

Sonja W. Scholz, Demis A. Kia, D. Hernandez, 2018, JAMA neurology.

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Sonja W. Scholz, Hannah A. Pliner, D. Hernandez, 2019, Annals of neurology.

Corrigendum to Using genome-wide complex trait analysis to quantify 'missing heritability' in parkinson's disease [Human Molecular Genetics, 21: 22 (2012) 4996-5009] doi: 10.1093/hmg/dds335]

D. Hernandez, M. Nalls, A. Singleton, 2013 .

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Jean-François Dartigues, Günther Deuschl, Yoav Ben-Shlomo, 2017, Genome Biology.

The Parkinson's Disease Mendelian Randomization Research Portal

Demis A. Kia, M. Nalls, A. Singleton, 2019, bioRxiv.

The Parkinson's Disease Mendelian Randomization Research Portal

Demis A. Kia, M. Nalls, A. Singleton, 2019, Movement disorders : official journal of the Movement Disorder Society.

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2017, Movement disorders : official journal of the Movement Disorder Society.

A survey of genetic human cortical gene expression

D. Stephan, P. Holmans, A. Myers, 2007, Nature Genetics.

(2019). Parkinson’s Disease Mendelian Randomization Research

M. Nalls, A. Singleton, P. Visscher, 2019 .

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Janel O. Johnson, M. Nalls, A. Chiò, 2014, Brain : a journal of neurology.

CHCHD2 and Parkinson's disease

M. Nalls, A. Singleton, J. Hardy, 2015, The Lancet Neurology.

Genome-wide analysis of Structural Variants in Parkinson’s Disease using Short-Read Sequencing data

Ryan L. Collins, Sonja W. Scholz, Toshiko Tanaka, 2022, bioRxiv.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.

A. Singleton, J. Hardy, R. Guerreiro, 2012, JAMA neurology.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.

Peter Holmans, Alexandra Durr, Manu Sharma, 2013, JAMA neurology.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Sonja W. Scholz, Lilah M. Besser, Alan J. Thomas, 2021, Nature Genetics.

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, The Lancet Neurology.

MIDN locus structural variants and Parkinson's Disease risk

D. Hernandez, C. Blauwendraat, J. R. Gibbs, 2020, Annals of clinical and translational neurology.

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

Sonja W. Scholz, D. Hernandez, M. Nalls, 2017, Neurobiology of Aging.

Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

James E. Tomkins, M. Nalls, T. Price, 2016, Human molecular genetics.

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

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2016, American journal of human genetics.

SNCA variants are associated with increased risk for multiple system atrophy

Sonja W. Scholz, M. T. Pellecchia, A. Singleton, 2009, Annals of neurology.

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

Michelle K. Lupton, W. M. van der Flier, M. Nalls, 2016, Neurobiology of Aging.

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy

Janel O. Johnson, B. Traynor, G. Hawkins, 2017, Muscle & nerve.

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Janel O. Johnson, R. Finkel, M. Devoto, 2015, JAMA neurology.

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

Sonja W. Scholz, D. Hernandez, A. Singleton, 2016, Neurobiology of Disease.

Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease

Sonja W. Scholz, A. Singleton, C. Gieger, 2020, Movement disorders : official journal of the Movement Disorder Society.

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, Nature Communications.

Genetic Variability in CLU and Its Association with Alzheimer's Disease

Nick C Fox, M. Nalls, A. Singleton, 2010, PloS one.

Application of Genome-Wide Single Nucleotide Polymorphism Typing: Simple Association and Beyond

J. Gibbs, J. R. Gibbs, A. Singleton, 2006, PLoS genetics.

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3

Michelle K. Lupton, M. Nalls, A. Singleton, 2018, Neurobiology of Aging.

Genome-wide Analyses Id entify KIF 5 A as a Novel ALS Gene Highlights

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2018 .

Identification of sixteen novel candidate genes for late onset Parkinson’s disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, Molecular Neurodegeneration.

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2012, Neurology.

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Janel O. Johnson, D. Hernandez, A. Singleton, 2012, Brain : a journal of neurology.

Exome sequencing in Brown-Vialetto-van Laere syndrome.

Janel O. Johnson, A. Singleton, J. R. Gibbs, 2010, American journal of human genetics.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Patrizia Sola, Joanne Wuu, Michael Benatar, 2011, Neuron.

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease

D. Hernandez, C. Blauwendraat, J. R. Gibbs, 2021, medRxiv.

A genome-wide association study of myasthenia gravis.

Michael Benatar, Sonja W. Scholz, Adriano Chiò, 2015, JAMA neurology.

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

A. Singleton, R. Guerreiro, J. R. Gibbs, 2012, Neurobiology of Aging.

Structural genomic variation in ischemic stroke

Sonja W. Scholz, D. Hernandez, A. Singleton, 2008, Neurogenetics.

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases

Nicholas W Wood, Andre Franke, Manu Sharma, 2017, JAMA neurology.

Genomewide SNP assay reveals mutations underlying Parkinson disease

Sonja W. Scholz, D. Hernandez, A. Singleton, 2008, Human mutation.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

A. Singleton, M. Vidailhet, A. Durr, 2018, JAMA neurology.

RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways

Ming Zhan, Nancy M Bonini, Myriam Gorospe, 2008, Proceedings of the National Academy of Sciences.

Association of a Common Genetic Variant with Parkinson’s Disease is Propagated through Microglia

C. Blauwendraat, M. Cookson, J. R. Gibbs, 2021, bioRxiv.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Lorne Zinman, Adriano Chiò, Richard W. Orrell, 2014, Nature Neuroscience.

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Sonja W. Scholz, C. Blauwendraat, M. Cookson, 2020, The Lancet Neurology.

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

Sonja W. Scholz, D. Hernandez, A. Singleton, 2008, The Lancet Neurology.

Establishing the role of rare coding variants in known Parkinson's disease risk loci

M. Nalls, T. Price, A. Singleton, 2017, Neurobiology of Aging.

Genetic comorbidities in Parkinson's disease.

Mohamad Saad, Anette Schrag, Thomas Gasser, 2014, Human molecular genetics.

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

D. Hernandez, M. Nalls, A. Singleton, 2013, Human molecular genetics.

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

Luigi Ferrucci, Sonja W. Scholz, Tamara B. Harris, 2009, PLoS genetics.

A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease

Michelle K. Lupton, D. Hernandez, A. Singleton, 2018, Molecular Psychiatry.

A comprehensive analysis of SNCA‐related genetic risk in sporadic parkinson disease

M. Nalls, A. Singleton, C. Blauwendraat, 2018, Annals of neurology.

Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score

D. Hernandez, M. Nalls, A. Singleton, 2020, Movement disorders : official journal of the Movement Disorder Society.

Penetrance of Parkinson’s disease in LRRK2 p.G2019S carriers is modified by a polygenic risk score

D. Hernandez, M. Nalls, A. Singleton, 2019, bioRxiv.

Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, medRxiv.

Missense variant in TREML2 protects against Alzheimer's disease

Michelle K. Lupton, A. Singleton, J. Haines, 2014, Neurobiology of Aging.

Missense variant in TREML 2 protects against Alzheimer ’ s Disease

Timothy Edward John Behrens, Denise, Michelle K. Lupton, 2013 .

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Nicholas Eriksson, Margaret Sutherland, Mohamad Saad, 2015, Neurobiology of Aging.

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

A. Singleton, J. Hardy, R. Guerreiro, 2016, PloS one.

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

D. Hernandez, M. Nalls, J. Hoenicka, 2019, npj Parkinson's Disease.

A simple and efficient algorithm for genome-wide homozygosity analysis in disease

A. Singleton, J. Hardy, Sue-Jane Wang, 2009, Molecular systems biology.

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Sonja W. Scholz, D. Hernandez, M. Nalls, 2017, Neurobiology of Aging.

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.

Allissa Dillman, Ronald C Petersen, Mark R Cookson, 2010, American journal of human genetics.

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

Margaret Sutherland, John P A Ioannidis, Daniel Weintraub, 2015, The Lancet Neurology.

Another locus, a new method.

A. Singleton, J. R. Gibbs, 2010, Brain : a journal of neurology.

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

M. Nalls, A. Singleton, D. Vitale, 2019, Movement disorders : official journal of the Movement Disorder Society.

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls

A. Singleton, J. R. Gibbs, C. Paisán-Ruiz, 2008, Human mutation.

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set

B. Traynor, E. Rogaeva, P. George-Hyslop, 2016, Neurobiology of Aging.

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

D. Hernandez, M. Nalls, A. Singleton, 2019, Movement disorders : official journal of the Movement Disorder Society.

Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, Movement disorders : official journal of the Movement Disorder Society.

Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy

Sonja W. Scholz, M. Cookson, J. Hardy, 2020, bioRxiv.

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, Brain : a journal of neurology.

MUTATION ANALYSIS OF THE MS4A AND TREM GENE-CLUSTERS IN A CASE-CONTROL ALZHEIMER’S DISEASE DATASET

B. Traynor, E. Rogaeva, P. George-Hyslop, 2016, Alzheimer's & Dementia.

Genome‐Wide Analysis of Structural Variants in Parkinson Disease

Ryan L. Collins, Sonja W. Scholz, Toshiko Tanaka, 2023, Annals of neurology.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2017, Genome Biology.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Sonja W. Scholz, A. Chiò, B. Traynor, 2023, Brain : a journal of neurology.

Association of Tau Haplotype-Tagging Polymorphisms with Parkinson’s Disease in Diverse Ethnic Parkinson’s Disease Cohorts

J. Hardy, H. Fung, J. R. Gibbs, 2007, Neurodegenerative Diseases.

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

Hannah A. Pliner, A. Mulas, F. Marrosu, 2016, Neurobiology of Aging.

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Ryan L. Collins, Sonja W. Scholz, Toshiko Tanaka, 2023, Cell genomics.

Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia

T. Price, C. Blauwendraat, G. Logroscino, 2021, Scientific Reports.

Testing association between LRRK2 and Parkinson’s disease and investigating linkage disequilibrium

J. R. Gibbs, G. Hadjigeorgiou, G. Xiromerisiou, 2005, Journal of Medical Genetics.

Age-modulated association between prefrontal NAA and the BDNF gene.

A. Singleton, M. Cookson, W. Drevets, 2013, The international journal of neuropsychopharmacology.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2020, Nature Communications.

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

D. Hernandez, A. Singleton, B. Traynor, 2017, Scientific Reports.

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

A. Singleton, J. Hardy, P. Krack, 2014, Brain : a journal of neurology.

Genetic variation within genes associated with mitochondrial function is significantly associated with later age at onset of Parkinson disease and contributes to disease risk

M. Nalls, A. Singleton, C. Blauwendraat, 2018, bioRxiv.

Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population

Sonja W. Scholz, Toshiko Tanaka, D. Hernandez, 2022, Movement Disorders.

Erratum: A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease [Human Molecular Genetics 22, 5, 2013, 1039-1049] doi:10.1093/hmg/dds492

D. Hernandez, M. Nalls, A. Singleton, 2014 .

AGenome-Wide Association Study ofMyasthenia Gravis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2015 .

Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy

Andrew J. Lees, Allissa Dillman, Li-San Wang, 2011, Nature Genetics.

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

Allissa Dillman, Jana Vandrovcova, John Hardy, 2012, Human molecular genetics.

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

Michelle K. Lupton, W. M. van der Flier, M. Nalls, 2016, Neurobiology of Aging.

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2019, npj Parkinson's Disease.

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

Erick R. Scott, Michelle K. Lupton, D. Hernandez, 2013, Nature.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.

Establishing the role of rare coding variants in known Parkinson's disease risk loci

M. Nalls, T. Price, A. Singleton, 2017, Neurobiology of Aging.

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.

A. Singleton, R. Guerreiro, J. Rohrer, 2012, JAMA neurology.

Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, bioRxiv.

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study

D. Hernandez, M. Nalls, A. Singleton, 2017, Neurobiology of Aging.

A genome-wide association study of myasthenia gravis.

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2015, JAMA neurology.