Ryten, Mina

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,409

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Nalls, M. A., Blauwendraat, C., Vallerga, C. L., Heilbron, K., Bandres-Ciga, S., Chang, D., Tan, M., Kia, D. A., Noyce, A. J., Xue, A., et al. (2019) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 2,454

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli

Pleguezuelos-Manzano, C., Puschhof, J., Rosendahl Huber, A., van Hoeck, A., Wood, H. M., Nomburg, J., Gurjao, C., Manders, F., Dalmasso, G., Stege, P. B., et al. (2020) · Nature

Genetic factors in colorectal cancerCancer Genomics and Diagnostics

Cited by 1,208

Common genetic variants influence human subcortical brain structures

Initiative, T. A. D. N., Hibar, D. P., The CHARGE Consortium, EPIGEN, IMAGEN, SYS, Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 858

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

the Alzheimer’s Disease Neuroimaging Initiative, E. C., Thompson, P. M., Stein, J. L., Medland, S. E., Hibar, D. P., Vasquez, A. A., Renteria, M. E., Toro, R., Jahanshad, N., Schumann, G., et al. (2014) · Brain Imaging and Behavior

Genetic Associations and EpidemiologyFunctional Brain Connectivity Studies

Cited by 838

The transcriptional landscape of age in human peripheral blood

Peters, M. J., Joehanes, R., Pilling, L. C., Schurmann, C., Conneely, K. N., Powell, J., Reinmaa, E., Sutphin, G. L., Zhernakova, A., Schramm, K., et al. (2015) · Nature Communications

Genetics, Aging, and Longevity in Model OrganismsEpigenetics and DNA Methylation

Cited by 725

Genetic variability in the regulation of gene expression in ten regions of the human brain

UK Brain Expression Consortium, Ramasamy, A., North American Brain Expression Consortium, Trabzuni, D., Guelfi, S., Varghese, V., Smith, C., Walker, R., De, T., Coin, L., et al. (2014) · Nature Neuroscience

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 644

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

Parkinson’s disease induced pluripotent stem cells with triplication of the α-synuclein locus

Devine, M. J., Ryten, M., Vodicka, P., Thomson, A. J., Burdon, T., Houlden, H., Cavaleri, F., Nagano, M., Drummond, N. J., Taanman, J.-W., et al. (2011) · Nature Communications

Parkinson's Disease Mechanisms and TreatmentsPluripotent Stem Cells Research

Cited by 486

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 438

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Robak, L. A., Jansen, I. E., van Rooij, J., Uitterlinden, A. G., Kraaij, R., Jankovic, J., Heutink, P., Shulman, J. M., International Parkinson’s Disease Genomics Consortium (IPDGC), Nalls, M. A., et al. (2017) · Brain

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 433

Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging

Soreq, L., Rose, J., Soreq, E., Hardy, J., Trabzuni, D., Cookson, M. R., Smith, C., Ryten, M., Patani, R., & Ule, J. (2017) · Cell Reports

Neuroinflammation and Neurodegeneration MechanismsSingle-cell and spatial transcriptomics

Cited by 419

Genome-wide association study of obsessive-compulsive disorder

Stewart, S. E., Yu, D., Scharf, J. M., Neale, B. M., Fagerness, J. A., Mathews, C. A., Arnold, P. D., Evans, P. D., Gamazon, E. R., Osiecki, L., et al. (2013) · Molecular Psychiatry

Obsessive-Compulsive Spectrum DisordersGenetic Associations and Epidemiology

Cited by 384

Novel genetic loci associated with hippocampal volume

Hibar, D. P., Adams, H. H. H., Jahanshad, N., Chauhan, G., Stein, J. L., Hofer, E., Renteria, M. E., Bis, J. C., Arias-Vasquez, A., Ikram, M. K., et al. (2017) · Nature Communications

Genetic Associations and EpidemiologyMemory and Neural Mechanisms

Cited by 299

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

The United Kingdom Brain Expression Consortium, Botía, J. A., Vandrovcova, J., Forabosco, P., Guelfi, S., D’Sa, K., Hardy, J., Lewis, C. M., Ryten, M., & Weale, M. E. (2017) · BMC Systems Biology

Bioinformatics and Genomic NetworksGene expression and cancer classification

Cited by 289

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

Trabzuni, D., Wray, S., Vandrovcova, J., Ramasamy, A., Walker, R., Smith, C., Luk, C., Gibbs, J. R., Dillman, A., Hernandez, D. G., et al. (2012) · Human Molecular Genetics

Alzheimer's disease research and treatmentsRNA Research and Splicing

Cited by 252

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

Trabzuni, D., Ryten, M., Walker, R., Smith, C., Imran, S., Ramasamy, A., Weale, M. E., & Hardy, J. (2011) · Journal of Neurochemistry

Molecular Biology Techniques and ApplicationsGene expression and cancer classification

Cited by 229

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez, K., Polke, J., Hagelstrom, R. T., Dolzhenko, E., Pasko, D., Thomas, E. R. A., Daugherty, L. C., Kasperaviciute, D., Smith, K. R., McDonagh, E. M., et al. (2022) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 187

Insights into TREM2 biology by network analysis of human brain gene expression data

Forabosco, P., Ramasamy, A., Trabzuni, D., Walker, R., Smith, C., Bras, J., Levine, A. P., Hardy, J., Pocock, J. M., Guerreiro, R., et al. (2013) · Neurobiology of Aging

Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatments

Cited by 180

Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson’s disease pathogenesis

Hughes, C. D., Choi, M. L., Ryten, M., Hopkins, L., Drews, A., Botía, J. A., Iljina, M., Rodrigues, M., Gagliano, S. A., Gandhi, S., et al. (2019) · Acta Neuropathologica

Parkinson's Disease Mechanisms and TreatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 177

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Sousa, S. B., Jenkins, D., Chanudet, E., Tasseva, G., Ishida, M., Anderson, G., Docker, J., Ryten, M., Sa, J., Saraiva, J. M., et al. (2014) · Nature Genetics

Dermatological and Skeletal DisordersGenomics and Rare Diseases

Cited by 115

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

Gustavsson, E. K., Follett, J., Trinh, J., Barodia, S. K., Real, R., Liu, Z., Grant-Peters, M., Fox, J. D., Appel-Cresswell, S., Stoessl, A. J., et al. (2024) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 114

A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene

Magusali, N., Graham, A. C., Piers, T. M., Panichnantakul, P., Yaman, U., Shoai, M., Reynolds, R. H., Botia, J. A., Brookes, K. J., Guetta-Baranes, T., et al. (2021) · Brain

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 111