Author: Mike A Nalls

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Preprints

Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD

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Expanding Parkinson's disease genetics: novel risk loci, genomic context, causal insights and heritable risk.

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  • Site-wide: 1,061
  • In genetics: 21
• Year to date:
  • Site-wide: 8,119
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  • Site-wide: 15,791

Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis

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  • Site-wide: 2,542
  • In genomics: 193
• Year to date:
  • Site-wide: 7,502
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  • Site-wide: 20,410

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

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  • Site-wide: 2,553
  • In genetics: 72
• Year to date:
  • Site-wide: 4,705
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  • Site-wide: 7,746

A CRISPRi/a platform in iPSC-derived microglia uncovers regulators of disease states

• Downloaded 5,794 times
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  • Site-wide: 2,856
  • In neuroscience: 154
• Year to date:
  • Site-wide: 10,395
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  • Site-wide: 8,658

A reference induced pluripotent stem cell line for large-scale collaborative studies

• Downloaded 4,793 times
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  • Site-wide: 3,708
  • In neuroscience: 241
• Year to date:
  • Site-wide: 4,487
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  • Site-wide: 907

Predicting onset, progression, and clinical subtypes of Parkinson disease using machine learning

• Downloaded 3,627 times
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  • Site-wide: 5,534
  • In neuroscience: 433
• Year to date:
  • Site-wide: 10,154
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  • Site-wide: 26,337

Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

• Downloaded 3,432 times
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  • Site-wide: 6,016
  • In genetics: 198
• Year to date:
  • Site-wide: 57,091
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  • Site-wide: 116,838

A Cellular Taxonomy of the Adult Human Spinal Cord

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  • Site-wide: 6,076
  • In neuroscience: 522
• Year to date:
  • Site-wide: 4,218
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  • Site-wide: 1,976

Dopaminergic stimulants and risk of Parkinson's disease

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  • Site-wide: 6,294
  • In pharmacology and therapeutics: 25
• Year to date:
  • Site-wide: 1,592
• Since beginning of last month:
  • Site-wide: 4,540

Genetic insights into the biological mechanisms governing human ovarian ageing

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  • Site-wide: 9,171
  • In sexual and reproductive health: 13
• Year to date:
  • Site-wide: 121,453
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  • Site-wide: 71,424

The Foundational data initiative for Parkinsons disease (FOUNDIN-PD): enabling efficient translation from genetic maps to mechanism

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  • Site-wide: 15,328
  • In genomics: 1,386
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  • Site-wide: None
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  • Site-wide: 35,015

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

• Downloaded 1,647 times
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  • Site-wide: 18,219
  • In genetics: 729
• Year to date:
  • Site-wide: 108,197
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  • Site-wide: 117,891

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

• Downloaded 1,629 times
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  • Site-wide: 18,493
  • In genetics: 742
• Year to date:
  • Site-wide: 78,061
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  • Site-wide: 207,768

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

• Downloaded 1,412 times
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  • Site-wide: 23,273
  • In genomics: 2,011
• Year to date:
  • Site-wide: 103,577
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  • Site-wide: 177,458

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

• Downloaded 1,408 times
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  • Site-wide: 23,395
  • In genomics: 2,039
• Year to date:
  • Site-wide: 23,210
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  • Site-wide: 28,091

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

• Downloaded 1,386 times
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  • Site-wide: 23,987
  • In genomics: 2,063
• Year to date:
  • Site-wide: 103,802
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  • Site-wide: 146,333

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

• Downloaded 1,377 times
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  • Site-wide: 24,233
  • In genetics: 976
• Year to date:
  • Site-wide: 18,992
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  • Site-wide: 27,593

The Parkinson's Disease GWAS Locus Browser

• Downloaded 1,361 times
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  • Site-wide: 24,681
  • In genetics: 1,002
• Year to date:
  • Site-wide: 38,263
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  • Site-wide: 24,779

A fully automated FAIMS-DIA proteomic pipeline for high-throughput characterization of iPSC-derived neurons

• Downloaded 1,336 times
• Download rankings, all-time:
  • Site-wide: 25,437
  • In neuroscience: 3,259
• Year to date:
  • Site-wide: 32,180
• Since beginning of last month:
  • Site-wide: 6,765

Multi-Modality Machine Learning Predicting Parkinsons Disease

• Downloaded 1,261 times
• Download rankings, all-time:
  • Site-wide: 27,871
  • In genomics: 2,364
• Year to date:
  • Site-wide: 119,679
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  • Site-wide: 69,477

Parallel CRISPR-Cas9 screens reveal mechanisms of PLIN2 and lipid droplet regulation

• Downloaded 1,245 times
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  • Site-wide: 28,454
  • In cell biology: 1,190
• Year to date:
  • Site-wide: 2,036
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  • Site-wide: 2,647

Predicting Alzheimer’s disease progression trajectory and clinical subtypes using machine learning

• Downloaded 1,244 times
• Download rankings, all-time:
  • Site-wide: 28,474
  • In neuroscience: 3,539
• Year to date:
  • Site-wide: 59,197
• Since beginning of last month:
  • Site-wide: 30,742

Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease

• Downloaded 1,079 times
• Download rankings, all-time:
  • Site-wide: 35,490
  • In genomics: 2,851
• Year to date:
  • Site-wide: 166,378
• Since beginning of last month:
  • Site-wide: 76,170

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

• Downloaded 1,031 times
• Download rankings, all-time:
  • Site-wide: 38,099
  • In genetics: 1,502
• Year to date:
  • Site-wide: 134,506
• Since beginning of last month:
  • Site-wide: 207,006

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

• Downloaded 1,005 times
• Download rankings, all-time:
  • Site-wide: 39,672
  • In genetics: 1,577
• Year to date:
  • Site-wide: 101,791
• Since beginning of last month:
  • Site-wide: 144,395

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

• Downloaded 1,004 times
• Download rankings, all-time:
  • Site-wide: 39,691
  • In genomics: 3,066
• Year to date:
  • Site-wide: 138,919
• Since beginning of last month:
  • Site-wide: 210,375

The Parkinson's Phenome: Traits Associated with Parkinson's Disease in a Large and Deeply Phenotyped Cohort

• Downloaded 916 times
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  • Site-wide: 45,746
  • In epidemiology: 2,338
• Year to date:
  • Site-wide: 100,951
• Since beginning of last month:
  • Site-wide: 152,036

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

• Downloaded 883 times
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  • Site-wide: 48,497
  • In genomics: 3,575
• Year to date:
  • Site-wide: 198,183
• Since beginning of last month:
  • Site-wide: 92,257

Parkinsons disease determinants, prediction and gene-environment interactions in the UK Biobank

• Downloaded 877 times
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  • Site-wide: 48,938
  • In genetics: 1,902
• Year to date:
  • Site-wide: 131,020
• Since beginning of last month:
  • Site-wide: 211,303

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

• Downloaded 862 times
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  • Site-wide: 50,192
  • In neuroscience: 6,729
• Year to date:
  • Site-wide: 59,472
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  • Site-wide: 94,317

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

• Downloaded 715 times
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  • Site-wide: 66,288
  • In genetics: 2,538
• Year to date:
  • Site-wide: 176,608
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  • Site-wide: 179,395

Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects

• Downloaded 689 times
• Download rankings, all-time:
  • Site-wide: 69,885
  • In genetic and genomic medicine: 456
• Year to date:
  • Site-wide: 32,892
• Since beginning of last month:
  • Site-wide: 28,556

Biomarkers of Parkinson's Disease: Screening Vital Signs and Routine Blood Tests

• Downloaded 656 times
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  • Site-wide: 74,763
  • In neurology: 295
• Year to date:
  • Site-wide: 54,643
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  • Site-wide: 30,922

Sequential screening nominates the Parkinson's disease associated kinase LRRK2 as a regulator of Clathrin-mediated endocytosis

• Downloaded 637 times
• Download rankings, all-time:
  • Site-wide: 77,612
  • In molecular biology: 2,214
• Year to date:
  • Site-wide: 110,249
• Since beginning of last month:
  • Site-wide: 159,399

Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile

• Downloaded 634 times
• Download rankings, all-time:
  • Site-wide: 78,155
  • In genomics: 5,105
• Year to date:
  • Site-wide: 139,600
• Since beginning of last month:
  • Site-wide: 205,712

Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies

• Downloaded 628 times
• Download rankings, all-time:
  • Site-wide: 79,031
  • In genetics: 3,032
• Year to date:
  • Site-wide: 136,036
• Since beginning of last month:
  • Site-wide: 190,718

Investigation of Autosomal Genetic Sex Differences in Parkinsons disease

• Downloaded 621 times
• Download rankings, all-time:
  • Site-wide: 80,174
  • In genetic and genomic medicine: 514
• Year to date:
  • Site-wide: 186,890
• Since beginning of last month:
  • Site-wide: 110,445

The Parkinsons Disease Mendelian Randomization Research Portal

• Downloaded 599 times
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  • Site-wide: 83,931
  • In neuroscience: 11,864
• Year to date:
  • Site-wide: 196,731
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  • Site-wide: 153,959

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

• Downloaded 585 times
• Download rankings, all-time:
  • Site-wide: 86,635
  • In genetics: 3,599
• Year to date:
  • Site-wide: 6,383
• Since beginning of last month:
  • Site-wide: 7,272

Comprehensive assessment of PINK1 variants in Parkinson's disease

• Downloaded 566 times
• Download rankings, all-time:
  • Site-wide: 90,371
  • In genetic and genomic medicine: 582
• Year to date:
  • Site-wide: 93,682
• Since beginning of last month:
  • Site-wide: 189,634

Unhealthy Behaviours and Parkinsons Disease: A Mendelian Randomisation Study

• Downloaded 542 times
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  • Site-wide: 95,243
  • In neurology: 402
• Year to date:
  • Site-wide: 129,106
• Since beginning of last month:
  • Site-wide: 82,236

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

• Downloaded 530 times
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  • Site-wide: 97,637
  • In bioinformatics: 8,504
• Year to date:
  • Site-wide: 195,270
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  • Site-wide: 181,283

LRRK2 coding variants and the risk of Parkinson's disease

• Downloaded 529 times
• Download rankings, all-time:
  • Site-wide: 98,011
  • In neurology: 429
• Year to date:
  • Site-wide: 85,859
• Since beginning of last month:
  • Site-wide: 47,657

Differences in the presentation and progression of Parkinson's disease by sex

• Downloaded 515 times
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  • Site-wide: 101,107
  • In neurology: 436
• Year to date:
  • Site-wide: 185,224
• Since beginning of last month:
  • Site-wide: 132,147

Genome-wide estimates of heritability and genetic correlations in Essential Tremor

• Downloaded 488 times
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  • Site-wide: 107,279
  • In genetics: 4,060
• Year to date:
  • Site-wide: 139,776
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  • Site-wide: 147,638

Genetics of fasting indices of glucose homeostasis using GWIS unravels tight relationships with inflammatory markers

• Downloaded 485 times
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  • Site-wide: 107,893
  • In genetics: 4,075
• Year to date:
  • Site-wide: 167,275
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  • Site-wide: 149,750

Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource

• Downloaded 466 times
• Download rankings, all-time:
  • Site-wide: 112,578
  • In neurology: 521
• Year to date:
  • Site-wide: 110,944
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  • Site-wide: 77,565

Multi-ancestry meta-analysis and fine-mapping in Alzheimer's Disease

• Downloaded 455 times
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  • Site-wide: 115,197
  • In genetic and genomic medicine: 870
• Year to date:
  • Site-wide: 6,478
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  • Site-wide: 8,462

Multi-ancestry genome-wide meta-analysis in Parkinson's disease

• Downloaded 448 times
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  • Site-wide: 117,194
  • In genetic and genomic medicine: 833
• Year to date:
  • Site-wide: 15,825
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  • Site-wide: 13,911

Evidence for GRN as part of a neuroinflammatory mechanism connecting common neurodegenerative diseases.

• Downloaded 420 times
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  • Site-wide: 124,485
  • In neurology: 616
• Year to date:
  • Site-wide: 132,678
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  • Site-wide: 168,433

The Parkinson's Disease DNA Variant Browser

• Downloaded 398 times
• Download rankings, all-time:
  • Site-wide: 130,925
  • In genetic and genomic medicine: 905
• Year to date:
  • Site-wide: 94,560
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  • Site-wide: 103,876

Identification and prediction of Parkinson's disease subtypes and progression using machine learning in two cohorts.

• Downloaded 380 times
• Download rankings, all-time:
  • Site-wide: 136,056
  • In bioinformatics: 11,477
• Year to date:
  • Site-wide: 160,472
• Since beginning of last month:
  • Site-wide: 12,483

GWAS of QRS Duration Identifies New Loci Specific to Hispanic/Latino Populations

• Downloaded 375 times
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  • Site-wide: 137,654
  • In genetics: 5,111
• Year to date:
  • Site-wide: 174,396
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  • Site-wide: 205,229

A population scale analysis of rare SNCA variation in the UK Biobank

• Downloaded 357 times
• Download rankings, all-time:
  • Site-wide: 142,885
  • In genetic and genomic medicine: 1,001
• Year to date:
  • Site-wide: 182,478
• Since beginning of last month:
  • Site-wide: 141,157

Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes

• Downloaded 348 times
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  • Site-wide: 145,806
  • In genomics: 7,710
• Year to date:
  • Site-wide: 126,348
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  • Site-wide: 79,581

PhenoExam: an R package and Web application for the examination of phenotypes linked to genes and gene sets

• Downloaded 338 times
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  • Site-wide: 148,847
  • In bioinformatics: 12,193
• Year to date:
  • Site-wide: 199,420
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  • Site-wide: 12,150

Large-scale Rare Variant Burden Testing in Parkinson's Disease Identifies Novel Associations with Genes Involved in Neuro-inflammation

• Downloaded 319 times
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  • Site-wide: 154,582
  • In genetic and genomic medicine: 1,142
• Year to date:
  • Site-wide: 24,913
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  • Site-wide: 8,543

Analysis of Y Chromosome Haplogroups in Parkinson's Disease

• Downloaded 310 times
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  • Site-wide: 157,258
  • In genetic and genomic medicine: 1,154
• Year to date:
  • Site-wide: 26,930
• Since beginning of last month:
  • Site-wide: 17,215

Virus exposure and neurodegenerative disease risk across national biobanks.

• Downloaded 242 times
• Download rankings, all-time:
  • Site-wide: 177,103
  • In geriatric medicine: 137
• Year to date:
  • Site-wide: 10,562
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  • Site-wide: 21,012

The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data

• Downloaded 182 times
• Download rankings, all-time:
  • Site-wide: 191,842
  • In genetics: 6,820
• Year to date:
  • Site-wide: 121,881
• Since beginning of last month:
  • Site-wide: 33,350

Genome-wide epistasis analysis in Parkinson's disease between populations with different genetic ancestry reveals significant variant-variant interactions

• Downloaded 170 times
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  • Site-wide: 194,433
  • In genetic and genomic medicine: 1,487
• Year to date:
  • Site-wide: 160,794
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  • Site-wide: 41,392

Application of Aligned-UMAP to longitudinal biomedical studies

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  • Site-wide: 203,891
  • In bioinformatics: None
• Year to date:
  • Site-wide: 8,963
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  • Site-wide: 2,605

Global Parkinson's Genetics Program (GP2) Complex Network Protocol: Defining the causes of sporadic Parkinson's disease

• Downloaded 119 times
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  • Site-wide: 204,434
  • In genetic and genomic medicine: None
• Year to date:
  • Site-wide: 14,730
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  • Site-wide: 5,614

Global Parkinson's Genetics Program (GP2) Monogenic Network Protocol: Elucidating causative gene variants in hereditary Parkinson's disease

• Downloaded 94 times
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  • Site-wide: 208,810
  • In genetic and genomic medicine: 1,748
• Year to date:
  • Site-wide: 7,667
• Since beginning of last month:
  • Site-wide: 4,999

Polygenic Parkinson's disease genetic risk score as risk modifier of parkinsonism in Gaucher disease

• Downloaded 66 times
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  • Site-wide: 214,027
  • In genetic and genomic medicine: None
• Year to date:
  • Site-wide: 16,299
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  • Site-wide: 7,431