|
2018-10-08
|
Genetic variability in response to Aβ deposition influences Alzheimer's risk
unknown status
| post
doi:10.1101/437657
|
|
2019-12-23
|
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of a-synuclein
unknown status
| post
doi:10.1101/2019.12.23.886838
|
|
2020-06-10
|
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders
published
| article-journal
doi:10.1126/sciadv.aay8299
|
|
2021-02-05
|
Human brain mitochondrial-nuclear cross-talk is cell-type specific and is perturbed by neurodegeneration
unknown status
| post
doi:10.1101/2021.02.04.429781
|
|
2021-09-13
|
Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects
unknown status
| post
doi:10.1101/2021.09.08.21254232
|
|
2021-02-15
|
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
published
| article-journal
doi:10.1038/s41588-021-00785-3
|
|
2021-05-19
|
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration
published
| article-journal
doi:10.1038/s41586-021-03556-6
|
|
2021-04-06
|
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
published
| article-journal
| CC-BY
doi:10.1038/s41467-021-22262-5
|
|
2022-03-29
|
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2
unknown status
| post
doi:10.1101/2022.03.28.486050
|
|
2021-01-15
|
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types
published
| article-journal
| CC-BY-NC
doi:10.1126/sciadv.abd9036
|
|
2022-04-27
|
Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes
published
| article-journal
| CC-BY
doi:10.1038/s41467-022-30017-z
|
|
2022-05-31
|
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases
unknown status
| post
doi:10.1101/2022.05.30.22275781
|
|
2022-06-27
|
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
unknown status
| post
doi:10.1101/2022.06.24.22276803
|
|
2022-08-02
|
Tabular Data for figures of Soutar et al. 2022
published
| dataset
| CC-BY
doi:10.5281/zenodo.6952971
|
|
2022-08-02
|
Tabular Data for figures of Soutar et al. 2022
published
| dataset
| CC-BY
doi:10.5281/zenodo.6952972
|
|
2022-10-21
|
Pseudogenes limit the identification of novel common transcripts generated by their parent genes
unknown status
| post
doi:10.1101/2022.10.21.513169
|
|
2022-12-07
|
Regional genetic correlations highlight relationships between neurodegenerative diseases and the immune system
unknown status
| post
doi:10.1101/2022.12.07.22283179
|
|
2022-09-08
|
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci
published
| article-journal
doi:10.1093/brain/awac325
|
|
2022-11-18
|
IntroVerse: a comprehensive database of introns across human tissues
published
| article-journal
doi:10.1093/nar/gkac1056
|
|
2023-02-15
|
Integrated single cell and unsupervised spatial transcriptomic analysis defines molecular anatomy of the human dorsolateral prefrontal cortex
published
| post
doi:10.1101/2023.02.15.528722
|
|
2023-07-15
|
Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system
published
| article-journal
doi:10.1038/s42003-023-05113-5
|
|
2023-08-08
|
Supporting data for "aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3"
published
| dataset
| CC-0
doi:10.5524/102433
|
|
2023-08-23
|
aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3
published
| article-journal
doi:10.46471/gigabyte.87
|
|
2023-09-14
|
ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R
published
| article-journal
doi:10.46471/gigabyte.91
|
|
2023-10-27
|
Investigation of the genetic aetiology of Lewy body diseases with and without dementia
published
| unknown type
doi:10.1101/2023.10.17.23297157
|
|
2023-10-27
|
Genome-Wide Association Study of Pericardial Fat Area in 28 161 UK Biobank Participants
published
| article-journal
doi:10.1161/jaha.123.030661
|
|
2023-04-28
|
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases
published
| article-journal
doi:10.1038/s41531-023-00504-1
|
|
2022-05-25
|
Association between the <i>LRP1B</i> and <i>APOE loci</i> and the development of Parkinson's disease dementia
unknown status
| post
doi:10.1101/2022.05.23.22275465
|
|
2024-01-18
|
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease andactivates LRRK2 kinase
published
| article-journal
| v1
doi:10.60692/by9v1-fvt64
|
|
2018-01-30
|
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
published
| article-journal
| v1
doi:10.60692/6fpna-f2k15
|
|
2024-06-16
|
Network nature of ligand-receptor interactions underlies disease comorbidity in the brain
unknown status
| post
doi:10.1101/2024.06.15.599140
|
|
2020-08-10
|
Neuronal intranuclear inclusion disease is genetically heterogeneous
published
| article-journal
| v1
doi:10.60692/jdp65-96k33
|
|
2023-03-27
|
Splicing accuracy varies across human introns, tissues and age
published
| dataset
| v1.0.0
| CC-BY
doi:10.5281/zenodo.7732872
|
|
2024-09-28
|
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments
unknown status
| post
| CC-BY
doi:10.1101/2024.09.27.24314122
|
|
2021-11-04
|
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease
published
| article-journal
| CC-BY
doi:10.1038/s42003-021-02792-w
|
|
2022-12-05
|
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
published
| article-journal
doi:10.1038/s41467-022-34732-5
|
|
2023-01-18
|
The chromatin modulating NSL complex regulates genes and pathways genetically linked to Parkinsons disease
unknown status
| post
doi:10.1101/2023.01.16.523926
|
|
2023-01-10
|
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
published
| article-journal
doi:10.1093/brain/awad009
|
|
2023-05-30
|
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease
published
| unknown type
doi:10.1101/2023.05.24.23290362
|
|
2023-08-15
|
Supporting data for "ensemblQueryR: fast, flexible and high-throughput querying of Ensembl API LD endpoints in R"
published
| dataset
| CC-0
doi:10.5524/102435
|
|
2023-08-31
|
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease
published
| article-journal
doi:10.1038/s41531-023-00573-2
|
|
2023-11-02
|
Large-scale rare variant burden testing in Parkinson's disease
published
| article-journal
doi:10.1093/brain/awad214
|
|
2023-12-18
|
RASP: Optimal single fluorescent puncta detection in complex cellular backgrounds
unknown status
| post
doi:10.1101/2023.12.18.572148
|
|
2024-01-18
|
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and<i>activates LRRK2 kinase</i>
published
| post
doi:10.1101/2024.01.17.24300927
|
|
2024-03-06
|
ASAP CRN Postmortem-Derived Brain Sequencing Collection
published
| dataset
| v1.0.0-beta
| CC-BY
doi:10.5281/zenodo.10372107
|
|
2024-04-01
|
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses
published
| article-journal
| v1
doi:10.60692/et5tb-6k875
|
|
2024-05-31
|
The diversity of SNCA transcripts in neurons, and its impact on antisense oligonucleotide therapeutics
unknown status
| post
doi:10.1101/2024.05.30.596437
|
|
2024-06-03
|
Leveraging sex-genetic interactions to understand brain disorders: recent advances and current gaps
published
| article-journal
doi:10.1093/braincomms/fcae192
|
|
2020-08-10
|
Neuronal intranuclear inclusion disease is genetically heterogeneous
published
| article-journal
| v1
doi:10.60692/v02t0-d5c45
|
|
2023-03-31
|
Splicing accuracy varies across human introns, tissues, age and disease
published
| dataset
| v1.0.0
| CC-BY
doi:10.5281/zenodo.7732871
|
|
2023-03-31
|
Splicing accuracy varies across human introns, tissues, age and disease
published
| dataset
| CC-BY
doi:10.5281/zenodo.13169485
|
|
2025-01-27
|
Splicing accuracy varies across human introns, tissues, age and disease
published
| article-journal
doi:10.1038/s41467-024-55607-x
|
|
2025-02-26
|
Rare disease gene association discovery in the 100,000 Genomes Project
published
| article-journal
doi:10.1038/s41586-025-08623-w
|
|
2025-04-11
|
Astrocytic RNA editing regulates the host immune response to alpha-synuclein
published
| article-journal
doi:10.1126/sciadv.adp8504
|
|
2024-11-08
|
RNApysoforms: Fast rendering interactive visualization of RNA isoform structure and expression in Python
published
| post
| CC-BY
doi:10.1101/2024.11.06.622357
|
|
2021-06-08
|
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein
published
| article-journal
| CC-BY-NC-ND
doi:10.1016/j.celrep.2021.109189
|
|
2023-07-31
|
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease
published
| article-journal
doi:10.1093/brain/awad246
|
|
2024-01-10
|
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria
published
| article-journal
doi:10.1126/scitranslmed.adh1334
|
|
2024-02-28
|
A new method for reliably detecting single fluorescent puncta in structured backgrounds
published
| graphic
| CC-BY
doi:10.17867/10000195
|
|
2024-04-01
|
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses
published
| article-journal
| v1
doi:10.60692/br2kq-4sm60
|
|
2024-01-18
|
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease andactivates LRRK2 kinase
published
| article-journal
| v1
doi:10.60692/s8m63-rs322
|
|
2018-01-30
|
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
published
| article-journal
| v1
doi:10.60692/zrhsj-fa053
|
|
2024-05-31
|
Investigation of the genetic aetiology of Lewy body diseases with and without dementia
published
| article-journal
doi:10.1093/braincomms/fcae190
|
|
2024-07-26
|
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing
published
| article-journal
| CC-BY
doi:10.1038/s41531-024-00749-4
|
|
2023-03-30
|
Splicing accuracy varies across human introns, tissues, age and disease
published
| dataset
| CC-BY
doi:10.5281/zenodo.13134472
|
|
2023-03-31
|
Splicing accuracy varies across human introns, tissues, age and disease
published
| dataset
| CC-BY
doi:10.5281/zenodo.14307072
|
|
2025-02-12
|
Antisense oligonucleotide–mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC–derived striatal neurons
published
| article-journal
doi:10.1126/scitranslmed.adn4600
|
|
2025-03-04
|
Molecular and cellular signatures differentiate Parkinson's disease from Parkinson's disease with dementia
unknown status
| post
| CC-BY
doi:10.1101/2025.03.04.641379
|
|
2025-03-19
|
Identification of GGC Repeat Expansions in ZFHX3 Among Chilean Movement Disorder Patients
published
| article-journal
doi:10.1101/2025.03.17.25323863
|
|
2022-11-09
|
Association between the <i>LRP1B</i> and <i>APOE</i> loci in the development of Parkinson's disease dementia
published
| article-journal
doi:10.1093/brain/awac414
|
|
2024-12-12
|
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1
published
| article-journal
doi:10.1038/s41594-024-01423-2
|
|
2024-06-28
|
The annotation of
<i>GBA1</i>
has been concealed by its protein-coding pseudogene
<i>GBAP1</i>
published
| article-journal
doi:10.1126/sciadv.adk1296
|
|
2024-05-24
|
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex
published
| article-journal
doi:10.1126/science.adh1938
|
|
2025-04-24
|
Targeted long-read RNA sequencing reveals the complexity of<i>CLN3</i>transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 disease
unknown status
| post
| CC-BY-NC
doi:10.1101/2025.04.24.650398
|