Browse by UCL people
Group by: Type | Date
Number of items: 37.
2023
Chen, Zhongbo;
Tucci, Arianna;
Cipriani, Valentina;
Gustavsson, Emil K;
Ibañez, Kristina;
Reynolds, Regina H;
Zhang, David;
... Ryten, Mina; + view all
(2023)
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
, 146
, Article awad009. 10.1093/brain/awad009.
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García-Ruiz, Sonia;
Reynolds, Regina Hertfelder;
Grant-Peters, Melissa;
Gustavsson, Emil Karl;
Fairbrother-Browne, Aine;
Chen, Zhongbo;
Brenton, Jonathan William;
(2023)
aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3.
GigaByte
, 2023
, Article gigabyte87. 10.46471/gigabyte.87.
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Hicks, Amy R;
Reynolds, Regina H;
O'Callaghan, Ben;
Garcia Ruiz, Sonia;
Gil Martinez, Ana Luisa;
Botia, Juan;
Plun-Favreau, Helene;
(2023)
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson’s disease.
Brain
, Article awad246. 10.1093/brain/awad246.
(In press).
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Leonard, Hampton L;
Murtadha, Ruqaya;
Martinez-Carrasco, Alejandro;
Jama, Alina;
Mueller-Nedebock, Amica Corda;
Gil-Martinez, Ana-Luisa;
Illarionova, Anastasia;
... Noyce, Alastair J; + view all
(2023)
Author Correction: The IPDGC/GP2 Hackathon - an open
science event for training in data science, genomics, and
collaboration using Parkinson’s disease data.
npj Parkinson's Disease
, 9
, Article 77. 10.1038/s41531-023-00529-6.
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Leonard, Hampton L;
Murtadha, Ruqaya;
Martinez-Carrasco, Alejandro;
Jama, Alina;
Müller-Nedebock, Amica Corda;
Gil-Martinez, Ana-Luisa;
Illarionova, Anastasia;
... International Parkinson Disease Genomics Consortium (IPDGC) and; + view all
(2023)
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data.
NPJ Parkinson's Disease
, 9
, Article 33. 10.1038/s41531-023-00472-6.
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Lona-Durazo, Frida;
Reynolds, Regina H;
Scholz, Sonja W;
Ryten, Mina;
Gagliano Taliun, Sarah A;
(2023)
Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system.
Communications Biology
, 6
, Article 729. 10.1038/s42003-023-05113-5.
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Reynolds, Regina H;
Wagen, Aaron Z;
Lona-Durazo, Frida;
Scholz, Sonja W;
Shoai, Maryam;
Hardy, John;
Gagliano Taliun, Sarah A;
(2023)
Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases.
npj Parkinson's Disease
, 9
, Article 70. 10.1038/s41531-023-00504-1.
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2022
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Gustavsson, Emil K;
Zhang, David;
Reynolds, Regina H;
Garcia-Ruiz, Sonia;
Ryten, Mina;
(2022)
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2.
Bioinformatics
10.1093/bioinformatics/btac409.
(In press).
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Krohn, Lynne;
Heilbron, Karl;
Blauwendraat, Cornelis;
Reynolds, Regina H;
Yu, Eric;
Senkevich, Konstantin;
Rudakou, Uladzislau;
... Gan-Or, Ziv; + view all
(2022)
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Nature Communications
, 13
, Article 7496. 10.1038/s41467-022-34732-5.
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Real, Raquel;
Martinez-Carrasco, Alejandro;
Reynolds, Regina H;
Lawton, Michael A;
Tan, Manuela MX;
Shoai, Maryam;
Corvol, Jean-Christophe;
... Morris, Huw R; + view all
(2022)
Association between the LRP1B and APOE loci in the development of Parkinson's disease dementia.
Brain
, Article awac414. 10.1093/brain/awac414.
(In press).
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2021
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Altmann, A;
Ryten, M;
Di Nunzio, M;
Ravizza, T;
Tolomeo, D;
Reynolds, RH;
Somani, A;
... Sisodiya, SM; + view all
(2021)
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Neuropathology and Applied Neurobiology
10.1111/nan.12758.
(In press).
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Andersen, MS;
Bandres-Ciga, S;
Reynolds, RH;
Hardy, J;
Ryten, M;
Krohn, L;
Gan-Or, Z;
... Pihlstrøm, L; + view all
(2021)
Heritability enrichment implicates microglia in Parkinson's disease pathogenesis.
Annals of Neurology
, 89
(5)
pp. 942-951.
10.1002/ana.26032.
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Chen, Z;
Zhang, D;
Reynolds, RH;
Gustavsson, EK;
García-Ruiz, S;
D'Sa, K;
Fairbrother-Browne, A;
... Ryten, M; + view all
(2021)
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nature Communications
, 12
, Article 2076. 10.1038/s41467-021-22262-5.
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Chia, R;
Sabir, MS;
Bandres-Ciga, S;
Saez-Atienzar, S;
Reynolds, RH;
Gustavsson, E;
Walton, RL;
... Scholz, SW; + view all
(2021)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Nature Genetics
, 53
pp. 294-30353.
10.1038/s41588-021-00785-3.
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Fairbrother-Browne, A;
Ali, AT;
Reynolds, RH;
Garcia-Ruiz, S;
Zhang, D;
Chen, Z;
Ryten, M;
(2021)
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.
Communications Biology
, 4
(1)
, Article 1262. 10.1038/s42003-021-02792-w.
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Feleke, R;
Reynolds, RH;
Smith, AM;
Tilley, B;
Taliun, SAG;
Hardy, J;
Matthews, PM;
... Ryten, M; + view all
(2021)
Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases.
Acta Neuropathologica
10.1007/s00401-021-02343-x.
(In press).
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García-Ruiz, S;
Gil-Martínez, AL;
Cisterna, A;
Jurado-Ruiz, F;
Reynolds, RH;
NABEC (North America Brain Expression Consortium), .;
Cookson, MR;
... Botía, JA; + view all
(2021)
CoExp: A Web Tool for the Exploitation of Co-expression Networks.
Frontiers in Gentics
, 12
, Article 630187. 10.3389/fgene.2021.630187.
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Jabbari, E;
Koga, S;
Valentino, R;
Reynolds, R;
Ferrari, R;
Tan, M;
Rowe, J;
... Morris, H; + view all
(2021)
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.
The Lancet Neurology
, 20
(2)
pp. 107-116.
10.1016/S1474-4422(20)30394-X.
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Kara, E;
Crimi, A;
Wiedmer, A;
Emmenegger, M;
Manzoni, C;
Bandres-Ciga, S;
D'Sa, K;
... Aguzzi, A; + view all
(2021)
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein.
Cell Reports
, 35
(10)
, Article 109189. 10.1016/j.celrep.2021.109189.
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Kia, DA;
Zhang, D;
Guelfi, S;
Manzoni, C;
Hubbard, L;
Reynolds, RH;
Botía, J;
... Botiá, JA; + view all
(2021)
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
JAMA Neurology
, 78
(4)
pp. 464-472.
10.1001/jamaneurol.2020.5257.
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Magusali, N;
Graham, AC;
Piers, TM;
Panichnantakul, P;
Yaman, U;
Shoai, M;
Reynolds, RH;
... Salih, DA; + view all
(2021)
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.
Brain
10.1093/brain/awab337.
(In press).
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Reynolds, Regina Hertfelder;
(2021)
Exploring the importance of cell-type-specific gene expression regulation and splicing in Parkinson’s disease.
Doctoral thesis (Ph.D), UCL (University College London).
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Saez-Atienzar, S;
Bandres-Ciga, S;
Langston, RG;
Kim, JJ;
Choi, SW;
Reynolds, RH;
International ALS Genomics Consortium;
... Traynor, BJ; + view all
(2021)
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types.
Science Advances
, 7
(3)
, Article eabd9036. 10.1126/sciadv.abd9036.
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2020
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Altmann, A;
Cash, DM;
Bocchetta, M;
Heller, C;
Reynolds, R;
Moore, K;
Convery, RS;
... Rohrer, JD; + view all
(2020)
Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.
Brain Communications
10.1093/braincomms/fcaa122.
(In press).
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Guelfi, S;
D'Sa, K;
Botía, JA;
Vandrovcova, J;
Reynolds, RH;
Zhang, D;
Trabzuni, D;
... Ryten, M; + view all
(2020)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Nature Communications
, 11
, Article 1041. 10.1038/s41467-020-14483-x.
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Mencacci, NE;
Reynolds, R;
Ruiz, SG;
Vandrovcova, J;
Forabosco, P;
Sánchez-Ferrer, A;
Volpato, V;
... Ryten, M; + view all
(2020)
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
Brain
, Article awaa217. 10.1093/brain/awaa217.
(In press).
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Tan, MMX;
Lawton, MA;
Jabbari, E;
Reynolds, RH;
Iwaki, H;
Blauwendraat, C;
Kanavou, S;
... Morris, HR; + view all
(2020)
Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease.
Movement Disorders
10.1002/mds.28342.
(In press).
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Zarkali, A;
McColgan, P;
Ryten, M;
Reynolds, R;
Leyland, L;
Lees, A;
Rees, G;
(2020)
Differences in network controllability and regional gene expression underlie visual hallucinations in Parkinson’s disease.
Brain: a journal of neurology
, 143
(11)
pp. 3435-3448.
10.1093/brain/awaa270.
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Zarkali, A;
McColgan, P;
Ryten, M;
Reynolds, R;
Leyland, L;
Lees, A;
Rees, G;
(2020)
Dementia risk in Parkinson’s disease is associated with
interhemispheric connectivity loss and determined by regional
gene expression.
NeuroImage: Clinical
, 28
, Article 102470. 10.1016/j.nicl.2020.102470.
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Zhang, D;
Guelfi, S;
Garcia-Ruiz, S;
Costa, B;
Reynolds, RH;
D’Sa, K;
Liu, W;
... Ryten, M; + view all
(2020)
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders.
Science Advances
, 6
(24)
, Article eaay8299. 10.1126/sciadv.aay8299.
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2019
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Billingsley, KJ;
Barbosa, IA;
Bandrés-Ciga, S;
Quinn, JP;
Bubb, VJ;
Deshpande, C;
Botia, JA;
... Koks, S; + view all
(2019)
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
npj Parkinson's Disease
, 5
, Article 8. 10.1038/s41531-019-0080-x.
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Reynolds, RH;
Botía, J;
Nalls, MA;
International Parkinson’s Disease Genomics Consortium (IPDGC), .;
System Genomics of Parkinson’s Disease (SGPD), .;
Hardy, J;
Gagliano Taliun, SA;
(2019)
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.
NPJ Parkinson's Disease
, 5
, Article 6. 10.1038/s41531-019-0076-6.
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Reynolds, RH;
Hardy, J;
Ryten, M;
Gagliano Taliun, SA;
(2019)
Informing disease modelling with brain-relevant functional genomic annotations.
Brain
10.1093/brain/awz295.
(In press).
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Salih, DA;
Bayram, S;
Guelfi, S;
Reynolds, RH;
Shoai, M;
Ryten, M;
Brenton, J;
... Hardy, J; + view all
(2019)
Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk.
Brain Communications
10.1093/braincomms/fcz022.
(In press).
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2018
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Ip, HF;
Jansen, R;
Abdellaoui, A;
Bartels, M;
UK Brain Expression Consortium, .;
Boomsma, DI;
Nivard, MG;
(2018)
Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity.
Behavior Genetics
, 48
(5)
pp. 374-385.
10.1007/s10519-018-9914-2.
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Jabbari, E;
Woodside, J;
Tan, MMX;
Shoai, M;
Pittman, A;
Ferrari, R;
Mok, KY;
... Morris, HR; + view all
(2018)
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Annals of Neurology
, 84
(4)
pp. 485-496.
10.1002/ana.25308.
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Salih, D;
Bayram, S;
Guelfi, MS;
Reynolds, RH;
Shoai, M;
Ryten, M;
Brenton, J;
... Escott-Price, V; + view all
(2018)
Genetic variability in response to Aβ deposition influences Alzheimer's risk.
BioRxiv: Cold Spring Harbor, NY, USA.
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