Browse by UCL people
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Number of items: 133.
Article
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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Adams, HHH;
Hibar, DP;
Chouraki, V;
Stein, JL;
Nyquist, PA;
Renteria, ME;
Trompet, S;
... Thompson, PM; + view all
(2016)
Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Nature Neuroscience
, 19
(12)
pp. 1569-1582.
10.1038/nn.4398.
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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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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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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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Anttila, V;
Bulik-Sullivan, B;
Finucane, HK;
Walters, RK;
Bras, J;
Duncan, L;
Escott-Price, V;
... Neale, BM; + view all
(2018)
Analysis of shared heritability in common disorders of the brain.
Science
, 360
(6395)
, Article eaap8757. 10.1126/science.aap8757.
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Bacq, A;
Roussel, D;
Bonduelle, T;
Zagaglia, S;
Maletic, M;
Ribierre, T;
Adle-Biassette, H;
... Baulac, S; + view all
(2022)
Cardiac investigations in sudden unexpected death in DEPDC5-related epilepsy.
Annals of Neurology
, 91
(1)
pp. 101-116.
10.1002/ana.26256.
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Bandres-Ciga, S;
Ahmed, S;
Sabir, MS;
Blauwendraat, C;
Adarmes-Gomez, AD;
Bernal-Bernal, I;
Bonilla-Toribio, M;
... Singleton, A; + view all
(2019)
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Movement Disorders
10.1002/mds.27864.
(In press).
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Bandres-Ciga, S;
Saez-Atienzar, S;
Bonet-Ponce, L;
Billingsley, K;
Vitale, D;
Blauwendraat, C;
Gibbs, JR;
... Singleton, AB; + view all
(2019)
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Movement Disorders
, 34
(4)
pp. 460-468.
10.1002/mds.27614.
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Bayat, A;
Knaus, A;
Juul, AW;
Dukic, D;
Gardella, E;
Charzewska, A;
Clement, E;
... DDD Study Group, .; + view all
(2019)
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Genetics in Medicine
, 21
pp. 2216-2223.
10.1038/s41436-019-0512-3.
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Bettencourt, C;
Forabosco, P;
Wiethoff, S;
Heidari, M;
Johnstone, DM;
Botía, JA;
Collingwood, JF;
... Houlden, H; + view all
(2016)
Gene co-expression networks shed light into diseases of brain iron accumulation.
Neurobiology of Disease
, 87
pp. 59-68.
10.1016/j.nbd.2015.12.004.
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Billingsley, KJ;
Ding, J;
Jerez, PA;
Illarionova, A;
Levine, K;
Grenn, FP;
Makarious, MB;
... Singleton, AB; + view all
(2023)
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Annals of Neurology
10.1002/ana.26608.
(In press).
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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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Blauwendraat, C;
Iwaki, H;
Makarious, MB;
Bandres-Ciga, S;
Leonard, H;
Grenn, FP;
Lake, J;
... Lynch, TL; + view all
(2021)
Investigation of Autosomal Genetic Sex Differences in Parkinson's disease.
Annals of Neurology
, 90
(1)
pp. 35-42.
10.1002/ana.26090.
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Blauwendraat, C;
Faghri, F;
Pihlstrom, L;
Geiger, JT;
Elbaz, A;
Lesage, S;
Corvol, J-C;
... Scholz, S; + view all
(2017)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Neurobiology of Aging
, 57
247.e9-247.e13.
10.1016/j.neurobiolaging.2017.05.009.
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Blauwendraat, C;
Kia, DA;
Pihlstrom, L;
Gan-Or, Z;
Lesage, S;
Gibbs, JR;
Ding, J;
... Wood, NW; + view all
(2018)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Neurobiology of Aging
, 64
159.e5-159.e8.
10.1016/j.neurobiolaging.2017.12.012.
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Blauwendraat, C;
Reed, X;
Kia, DA;
Gan-Or, Z;
Lesage, S;
Pihlstrøm, L;
Guerreiro, R;
... COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; + view all
(2018)
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
JAMA Neurology
10.1001/jamaneurol.2018.1885.
(In press).
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Botía, JA;
Vandrovcova, J;
Forabosco, P;
Guelfi, S;
D'Sa, K;
United Kingdom Brain Expression Consortium, .;
Hardy, J;
... Weale, ME; + view all
(2017)
An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.
BMC Systems Biology
, 11
, Article 47. 10.1186/s12918-017-0420-6.
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Charlesworth, G;
Angelova, PR;
Bartolomé-Robledo, F;
Ryten, M;
Trabzuni, D;
Stamelou, M;
Abramov, AY;
... Wood, NW; + view all
(2015)
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
American Journal of Human Genetics
, 96
(4)
pp. 657-665.
10.1016/j.ajhg.2015.02.007.
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Charlesworth, G;
Plagnol, V;
Holmström, KM;
Bras, J;
Sheerin, UM;
Preza, E;
Rubio-Agusti, I;
... Wood, NW; + view all
(2012)
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
The American Journal of Human Genetics
, 91
(6)
1041 - 1050.
10.1016/j.ajhg.2012.10.024.
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Chelban, V;
Patel, N;
Vandrovcova, J;
Zanetti, MN;
Lynch, DS;
Ryten, M;
Botia, JA;
... Houlden, H; + view all
(2017)
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
American Journal of Human Genetics
, 100
(6)
pp. 969-977.
10.1016/j.ajhg.2017.05.009.
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Chelban, V;
Wilson, MP;
Warman Chardon, J;
Vandrovcova, J;
Zanetti, MN;
Zamba-Papanicolaou, E;
Efthymiou, S;
... SYNaPS Study Group, .; + view all
(2019)
PDXK mutations cause polyneuropathy responsive to PLP supplementation.
Annals of Neurology
10.1002/ana.25524.
(In press).
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Chen, Z;
Maroofian, R;
Başak, AN;
Shingavi, L;
Karakaya, M;
Efthymiou, S;
Gustavsson, EK;
... Sarraf, P; + view all
(2021)
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
European Journal of Neurology
, 28
(4)
pp. 1344-1355.
10.1111/ene.14649.
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Chen, Z;
Ryten, M;
Houlden, H;
(2020)
Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.
Annals of Clinical and Translational Neurology
, 7
(12)
pp. 2544-2545.
10.1002/acn3.51222.
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Chen, Z;
Yan Yau, W;
Jaunmuktane, Z;
Tucci, A;
Sivakumar, P;
Gagliano Taliun, SA;
Turner, C;
... Houlden, H; + view all
(2020)
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Annals of Clinical and Translational Neurology
, 7
(9)
pp. 1716-1725.
10.1002/acn3.51151.
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Chen, Zhongbo;
Morris, Huw R;
Polke, James;
Wood, Nicholas W;
Gandhi, Sonia;
Ryten, Mina;
Houlden, Henry;
(2024)
Repeat expansion disorders.
Practical Neurology
10.1136/pn-2023-003938.
(In press).
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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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Cipriani, V;
Vestito, L;
Magavern, EF;
Jacobsen, JOB;
Arno, G;
Behr, ER;
Benson, KA;
... Smedley, D; + view all
(2025)
Rare disease gene association discovery in the 100,000 Genomes Project.
Nature
10.1038/s41586-025-08623-w.
(In press).
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Collier, JJ;
Guissart, C;
Oláhová, M;
Sasorith, S;
Piron-Prunier, F;
Suomi, F;
Zhang, D;
... Taylor, RW; + view all
(2021)
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
New England Journal of Medicine
, 384
(25)
pp. 2406-2417.
10.1056/NEJMoa1915722.
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D'Sa, Karishma;
Guelfi, Sebastian;
Vandrovcova, Jana;
Reynolds, Regina H;
Zhang, David;
Hardy, John;
Botía, Juan A;
... Ryten, Mina; + view all
(2023)
Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally.
Scientific Reports
, 13
(1)
, Article 13874. 10.1038/s41598-023-40324-0.
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Devine, MJ;
Kaganovich, A;
Ryten, M;
Mamais, A;
Trabzuni, D;
Manzoni, C;
McGoldrick, P;
... Lewis, PA; + view all
(2012)
Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.
PLOS ONE
, 7
(1)
, Article e22489. 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5.
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Devine, MJ;
Kaganovich, A;
Ryten, M;
Mamais, A;
Trabzuni, D;
Manzoni, C;
McGoldrick, P;
... Lewis, PA; + view all
(2011)
Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.
PLOS ONE
, 6
(7)
, Article e22489. 10.1371/journal.pone.0022489.
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Dewan, R;
Chia, R;
Ding, J;
Hickman, RA;
Stein, TD;
Abramzon, Y;
Ahmed, S;
... Traynor, BJ; + view all
(2021)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron
, 109
(3)
448-460.e4.
10.1016/j.neuron.2020.11.005.
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Efthymiou, S;
Salpietro, V;
Malintan, N;
Poncelet, M;
Kriouile, Y;
Fortuna, S;
De Zorzi, R;
... Houlden, H; + view all
(2019)
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
, 142
(10)
pp. 2948-2964.
10.1093/brain/awz248.
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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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Fairbrother-Browne, Aine;
García-Ruiz, Sonia;
Hertfelder Reynolds, Regina;
Ryten, Mina;
Hodgkinson, Alan;
(2023)
ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R.
GigaByte
, 2023
pp. 1-10.
10.46471/gigabyte.91.
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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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Ferrari, R;
Forabosco, P;
Vandrovcova, J;
Botía, JA;
Guelfi, S;
Warren, JD;
UK Brain Expression Consortium (UKBEC);
... Hardy, J; + view all
(2016)
Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.
Molecular Neurodegeneration
, 11
, Article 21. 10.1186/s13024-016-0085-4.
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Forabosco, P;
Ramasamy, A;
Trabzuni, D;
Walker, R;
Smith, C;
Bras, J;
Levine, AP;
... Ryten, M; + view all
(2013)
Insights into TREM2 biology by network analysis of human brain gene expression data.
Neurobiol Aging
, 34
(12)
pp. 2699-2714.
10.1016/j.neurobiolaging.2013.05.001.
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Franke, B;
Stein, JL;
Ripke, S;
Anttila, V;
Hibar, DP;
van Hulzen, KJ;
Arias-Vasquez, A;
... Sullivan, PF; + view all
(2016)
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.
Nature Neuroscience
, 19
(3)
pp. 420-431.
10.1038/nn.4228.
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Freeman, TM;
Wang, D;
Harris, J;
Ambrose, JC;
Arumugam, P;
Baple, EL;
Bleda, M;
... Zarowiecki, M; + view all
(2020)
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes.
Genome Research
, 30
(3)
pp. 415-426.
10.1101/gr.255349.119.
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Fu, Bin;
Brock, Emma E;
Andrews, Rebecca;
Breiter, Jonathan C;
Tian, Ru;
Toomey, Christina E;
Lachica, Joanne;
... Lee, Steven F; + view all
(2024)
RASP: Optimal Single Puncta Detection in Complex Cellular Backgrounds.
The Journal of Physical Chemistry B
, 128
(15)
pp. 3585-3597.
10.1021/acs.jpcb.4c00174.
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Gagliano, SA;
Pouget, JG;
Hardy, J;
Knight, J;
Barnes, MR;
Ryten, M;
Weale, ME;
(2016)
Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases.
Annals of Clinical and Translational Neurology
, 3
(12)
pp. 924-933.
10.1002/acn3.369.
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García-Ruiz, Sonia;
Gustavsson, Emil K;
Zhang, David;
Reynolds, Regina H;
Chen, Zhongbo;
Fairbrother-Browne, Aine;
Gil-Martínez, Ana Luisa;
... Ryten, Mina; + view all
(2022)
IntroVerse: a comprehensive database of introns across human tissues.
Nucleic Acids Research
10.1093/nar/gkac1056.
(In press).
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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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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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Geissler, JM;
International Parkinson Disease Genomics Consortium members;
Romanos, M;
Gerlach, M;
Berg, D;
Schulte, C;
(2017)
No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs.
ADHD Attention Deficit and Hyperactivity Disorders
, 9
(2)
pp. 121-127.
10.1007/s12402-017-0219-8.
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Gibson, Joel T;
Sadeghi-Alavijeh, Omid;
Gale, Daniel P;
Rothe, Hansjörg;
Genomics England Research Consortium;
Savige, Judy;
(2022)
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.
Scientific Reports
, 12
, Article 11257. 10.1038/s41598-022-14928-x.
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Guelfi, S;
Botia, JA;
Thom, M;
Ramasamy, A;
Perona, M;
Stanyer, L;
Martinian, L;
... Matarin, M; + view all
(2019)
Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy.
Brain
, 142
(6)
pp. 1616-1630.
10.1093/brain/awz074.
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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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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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Heidari, M;
Gerami, SH;
Bassett, B;
Graham, RM;
Chua, ACG;
Aryal, R;
House, MJ;
... Milward, EA; + view all
(2016)
Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.
Rare Diseases
, 4
(1)
, Article e1198458. 10.1080/21675511.2016.1198458.
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Heidari, M;
Johnstone, DM;
Bassett, B;
Graham, RM;
Chua, AC;
House, MJ;
Collingwood, JF;
... Milward, EA; + view all
(2016)
Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.
Molecular Psychiatry
, 21
pp. 1599-1607.
10.1038/mp.2015.192.
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Hernandez, DG;
Nalls, MA;
Moore, M;
Chong, S;
Dillman, A;
Trabzuni, D;
Gibbs, JR;
... Cookson, MR; + view all
(2012)
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.
Neurobiology of Disease
, 47
(1)
20 - 28.
10.1016/j.nbd.2012.03.020.
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Hibar, DP;
Adams, HH;
Jahanshad, N;
Chauhan, G;
Stein, JL;
Hofer, E;
Renteria, ME;
... Ikram, MA; + view all
(2017)
Novel genetic loci associated with hippocampal volume.
Nature Communications
, 8
, Article 13624. 10.1038/ncomms13624.
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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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Hong, Y;
Nanthapisal, S;
Omoyinmi, E;
Olbrich, P;
Neth, O;
Speckmann, C;
Lucena, JM;
... Brogan, P; + view all
(2019)
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
Frontiers in Immunology
, 10
, Article 2589. 10.3389/fimmu.2019.02589.
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Hughes, CD;
Choi, ML;
Ryten, M;
Hopkins, L;
Drews, A;
Botía, JA;
Iljina, M;
... Klenerman, D; + view all
(2019)
Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis.
Acta Neuropathologica
, 137
(1)
pp. 103-120.
10.1007/s00401-018-1907-y.
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Huuki-Myers, Louise A;
Spangler, Abby;
Eagles, Nicholas J;
Montgomery, Kelsey D;
Kwon, Sang Ho;
Guo, Boyi;
Grant-Peters, Melissa;
... PsychENCODE Consortium; + view all
(2024)
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex.
Science
, 384
(6698)
, Article ARTN eadh1938. 10.1126/science.adh1938.
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Ip, HF;
Jansen, R;
Abdellaoui, A;
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Tuna, Salih;
... Chinnery, Patrick F; + view all
(2020)
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Nature Communications
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Wei, W;
Pagnamenta, AT;
Gleadall, N;
Sanchis-Juan, A;
Stephens, J;
Broxholme, J;
Tuna, S;
... Chinnery, PF; + view all
(2020)
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Nature Communications
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Whelan, CD;
Altmann, A;
Botía, JA;
Jahanshad, N;
Hibar, DP;
Absil, J;
Alhusaini, S;
... Sisodiya, SM; + view all
(2018)
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.
Brain
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10.1093/brain/awx341.
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Wheway, G;
Mitchison, H;
(2019)
Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project.
Frontiers in Genetics
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, Article 127. 10.3389/fgene.2019.00127.
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Witoelar, A;
Jansen, IE;
Wang, Y;
Desikan, RS;
Gibbs, JR;
Blauwendraat, C;
Thompson, WK;
... International Parkinson’s Disease Genomics Consortium (IPDGC), N, .; + view all
(2017)
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.
JAMA Neurology
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pp. 780-792.
10.1001/jamaneurol.2017.0469.
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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
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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
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Zhang, Hao-Yu;
Minnis, Christopher;
Gustavsson, Emil;
Ryten, Mina;
Mole, Sara E;
(2024)
CLN3 transcript complexity revealed by long-read RNA sequencing analysis.
BMC Medical Genomics
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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
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Zou, X;
Koh, GCC;
Nanda, AS;
Degasperi, A;
Urgo, K;
Roumeliotis, TI;
Agu, CA;
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A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.
Nature Cancer
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Working / discussion paper
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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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Thesis
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Guelfi, Manuel Sebastian;
(2019)
Regulation of gene expression in human brain using transcriptome sequencing.
Doctoral thesis (Ph.D), UCL (University College London).
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Ponnampalam, SN;
(2016)
A blood-based gene expression and signalling pathway analysis to differentiate between high and low grade gliomas.
Doctoral thesis , UCL (University College London).
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