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Author Details
Full Name
Mina Ryten
Affiliation
UCL Great Ormond Street Institute of Child Health, University College London
ORCID
Career Start Year
2001
Papers
115
H Index
47
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36348503
Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.
Brain
2023
37560120
Genome-wide Analysis of Motor Progression in Parkinson Disease.
Neurol Genet
2023
37620324
Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally.
Sci Rep
2023
37652906
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease.
NPJ Parkinsons Dis
2023
37732134
ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R.
GigaByte
2023
37721944
eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.
PLoS Genet
2023
37637773
aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3.
GigaByte
2023
37425912
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease.
medRxiv
2023
37454237
Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system.
Commun Biol
2023
37253777
Author Correction: Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases.
NPJ Parkinsons Dis
2023
37117178
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases.
NPJ Parkinsons Dis
2023
37034741
Splicing accuracy varies across human introns, tissues and age.
bioRxiv
2023
37066341
Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS loci.
bioRxiv
2023
37129365
Age-related telomere attrition in the human putamen.
Aging Cell
2023
36925053
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiol Dis
2023
36695634
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Ann Neurol
2023
36399497
IntroVerse: a comprehensive database of introns across human tissues.
Nucleic Acids Res
2023
36824961
Integrated single cell and unsupervised spatial transcriptomic analysis defines molecular anatomy of the human dorsolateral prefrontal cortex.
bioRxiv
2023
34388852
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Neuropathol Appl Neurobiol
2022
35477703
Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes.
Nat Commun
2022
35751589
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2.
Bioinformatics
2022
36587217
PhenoExam: gene set analyses through integration of different phenotype databases.
BMC Bioinformatics
2022
36074904
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Brain
2022
35866887
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.
Mov Disord
2022
35333312
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.
Brain
2022
33220101
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Eur J Neurol
2021
33719340
CoExp: A Web Tool for the Exploitation of Co-expression Networks.
Front Genet
2021
33523105
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
JAMA Neurol
2021
33734320
Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights.
Bioinformatics
2021
33589841
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Nat Genet
2021
33704443
Regional brain iron and gene expression provide insights into neurodegeneration in Parkinson's disease.
Brain
2021
33502028
Heritability Enrichment Implicates Microglia in Parkinson's Disease Pathogenesis.
Ann Neurol
2021
33523907
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types.
Sci Adv
2021
34737414
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.
Commun Biol
2021
34758253
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
2021
34619763
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.
Brain
2021
34161705
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
2021
34012113
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
Nature
2021
34309761
Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases.
Acta Neuropathol
2021
33944973
Correction to: Largeâ¿¿scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease.
Acta Neuropathol
2021
32468614
The ENIGMA-Epilepsy working group: Mapping disease from large data sets.
Hum Brain Mapp
2020
33118028
Differences in network controllability and regional gene expression underlie hallucinations in Parkinson's disease.
Brain
2020
33395965
Dementia risk in Parkinson's disease is associated with interhemispheric connectivity loss and determined by regional gene expression.
Neuroimage Clin
2020
33210084
Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.
Brain Commun
2020
33124767
Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.
Ann Clin Transl Neurol
2020
32777174
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Ann Clin Transl Neurol
2020
32917675
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders.
Sci Adv
2020
32601912
Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease.
Acta Neuropathol
2020
32112654
Pathogenic PTPN11 variants involving the poly-glutamine Gln<sup>255</sup> -Gln<sup>256</sup> -Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation.
Hum Mutat
2020
30328509
Correction to: Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis.
Acta Neuropathol
2019
1 - 50 of 115
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