Genetic Risk Profiling in Parkinson’s Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways

Missing heritability in Parkinson’s disease: the emerging role of non-coding genetic variation

(2020) Jochen Ohnmacht et al.   JOURNAL OF NEURAL TRANSMISSION

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

(2020) Julien Bryois et al.   NATURE GENETICS

A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles

(2020) Nancy Y. A. Sey et al.   NATURE NEUROSCIENCE

Genetics of Parkinson's disease: An introspection of its journey towards precision medicine

(2020) Sara Bandres-Ciga et al.   NEUROBIOLOGY OF DISEASE

Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease

(2020) S. Bandres-Ciga et al.   ACTA NEUROPATHOLOGICA

Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants

(2020) Daniel J. M. Crouch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional annotation of rare structural variation in the human brain

(2020) Lide Han et al.   Nature Communications

MicroRNAs Dysregulation and Mitochondrial Dysfunction in Neurodegenerative Diseases

(2020) Mariano Catanesi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Parkinson’s disease determinants, prediction and gene–environment interactions in the UK Biobank

(2020) Benjamin Meir Jacobs et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2020) Francis P. Grenn et al.   MOVEMENT DISORDERS

Prioritizing Parkinson’s disease genes using population-scale transcriptomic data

(2019) Yang I. Li et al.   Nature Communications

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

(2019) Sara Bandres-Ciga et al.   MOVEMENT DISORDERS

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

(2019) Cornelis Blauwendraat et al.   MOVEMENT DISORDERS

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

(2019) Hirotaka Iwaki et al.   MOVEMENT DISORDERS

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

(2019) Mike A Nalls et al.   LANCET NEUROLOGY

Parkinson's disease-associated mutant LRRK2 phosphorylates Rab7L1 and modifies trans-Golgi morphology

(2018) Tetta Fujimoto et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A Bayesian framework for multiple trait colocalization from summary association statistics

(2018) Claudia Giambartolomei et al.   BIOINFORMATICS

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

(2018) Tatsiana Aneichyk et al.   CELL

The personal and clinical utility of polygenic risk scores

(2018) Ali Torkamani et al.   NATURE REVIEWS GENETICS

Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease

(2018) Sultan Chaudhury et al.   NEUROBIOLOGY OF AGING

Association of Polygenic Risk Score With Cognitive Decline and Motor Progression in Parkinson Disease

(2018) Kimberly C. Paul et al.   JAMA Neurology

The Parkinson Pandemic—A Call to Action

(2018) E. Ray Dorsey et al.   JAMA Neurology

Comprehensive functional genomic resource and integrative model for the human brain

(2018) Daifeng Wang et al.   SCIENCE

LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network

(2017) Zhiyong Liu et al.   HUMAN MOLECULAR GENETICS

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

(2017) Diana Chang et al.   NATURE GENETICS

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon inTAF1

(2017) D. Cristopher Bragg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast

(2017) Daniel C. Jeffares et al.   Nature Communications

Parkinson disease

(2017) Werner Poewe et al.   Nature Reviews Disease Primers

Copy number variability in Parkinson’s disease: assembling the puzzle through a systems biology approach

(2016) Valentina La Cognata et al.   HUMAN GENETICS

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance

(2016) Dena G. Hernandez et al.   JOURNAL OF NEUROCHEMISTRY

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

(2016) Kin Y Mok et al.   LANCET NEUROLOGY

Chromosome conformation elucidates regulatory relationships in developing human brain

(2016) Hyejung Won et al.   NATURE

Defects in trafficking bridge Parkinson's disease pathology and genetics

(2016) Asa Abeliovich et al.   NATURE

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

(2016) Christian R Marshall et al.   NATURE GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Autosomal dominant Parkinson's disease caused by SNCA duplications

(2016) Takuya Konno et al.   PARKINSONISM & RELATED DISORDERS

Polygenic risk of Parkinson disease is correlated with disease age at onset

(2015) Valentina Escott-Price et al.   ANNALS OF NEUROLOGY

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

(2015) Mike A Nalls et al.   LANCET NEUROLOGY

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family

(2015) Simone Olgiati et al.   PARKINSONISM & RELATED DISORDERS

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson’s Disease in Two Italian Siblings

(2015) Rosangela Ferese et al.   Parkinsons Disease

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

(2014) Mike A Nalls et al.   NATURE GENETICS

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

(2014) A. Beilina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

(2013) Maja Kojovic et al.   MOVEMENT DISORDERS

Assessment of Parkinson's disease risk loci in Greece

(2013) Eleanna Kara et al.   NEUROBIOLOGY OF AGING

Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

(2013) Nancy J. Butcher et al.   JAMA Neurology

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

(2011)   LANCET

SNCA Triplication Parkinson's Patient's iPSC-derived DA Neurons Accumulate α-Synuclein and Are Susceptible to Oxidative Stress

(2011) Blake Byers et al.   PLoS One

Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging

(2010) Jan Booij et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical course of the first Asian family with Parkinsonism related to SNCA triplication

(2010) Takeshi Sekine et al.   MOVEMENT DISORDERS

Towards a comprehensive structural variation map of an individual human genome

(2010) Andy W Pang et al.   GENOME BIOLOGY

α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism

(2009) Pablo Ibáñez   ARCHIVES OF NEUROLOGY

Parkinson's disease: from monogenic forms to genetic susceptibility factors

(2009) S. Lesage et al.   HUMAN MOLECULAR GENETICS

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

(2009) Karen Nuytemans et al.   HUMAN MUTATION

Non-motor symptoms of Parkinson's disease: dopaminergic pathophysiology and treatment

(2009) K Ray Chaudhuri et al.   LANCET NEUROLOGY

Expanding the clinical phenotype of SNCA duplication carriers

(2009) Kenya Nishioka et al.   MOVEMENT DISORDERS

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

(2009) Wataru Satake et al.   NATURE GENETICS

Genome-wide association study reveals genetic risk underlying Parkinson's disease

(2009) Javier Simón-Sánchez et al.   NATURE GENETICS

Analysis of exon dosage using MLPA in South African Parkinson's disease patients

(2009) Rowena J. Keyser et al.   NEUROGENETICS

α-Synuclein multiplication analysis in Italian familial Parkinson disease

(2009) Francesca Sironi et al.   PARKINSONISM & RELATED DISORDERS

Patients Homozygous and Heterozygous for SNCA Duplication in a Family With Parkinsonism and Dementia

(2008) Takeshi Ikeuchi et al.   ARCHIVES OF NEUROLOGY

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE