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Koks, Gea, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2021) At the dawn of the transcriptomic medicine. EXPERIMENTAL BIOLOGY AND MEDICINE, 246 (3). pp. 286-292.

Price, Emma, Gianfrancesco, Olympia, Harrison, Patrick T, Frank, Bernhard, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2021) CRISPR Deletion of a SVA Retrotransposon Demonstrates Function as a <i>cis</i>-Regulatory Element at the <i>TRPV1/TRPV3</i> Intergenic Region. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22 (4). 1911-.

Fröhlich, Alexander, Hughes, Lauren S, Middlehurst, Ben ORCID: 0000-0002-2603-2719, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Koks, Sulev ORCID: 0000-0001-6087-6643 and Quinn, John P ORCID: 0000-0003-3551-7803 (2023) CRISPR deletion of a SINE-VNTR-<i>Alu</i> (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the <i>MAPT</i> locus. Frontiers in neurology, 14. 1273036-.

Savage, Abigail L, Iacoangeli, Alfredo, Schumann, Gerald G, Rubio-Roldan, Alejandro, Garcia-Perez, Jose L, Al Khleifat, Ahmad, Koks, Sulev ORCID: 0000-0001-6087-6643, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Al-Chalabi, Ammar and Quinn, John P ORCID: 0000-0003-3551-7803 (2022) Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis. GENE, 843. 146799-.

Frohlich, Alexander, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Koks, Sulev ORCID: 0000-0001-6087-6643 and Quinn, John P ORCID: 0000-0003-3551-7803 (2022) Characterisation of the Function of a SINE-VNTR-<i>Alu</i> Retrotransposon to Modulate Isoform Expression at the <i>MAPT</i> Locus. FRONTIERS IN MOLECULAR NEUROSCIENCE, 15. 815695-.

Savage, Abigail L ORCID: 0000-0002-2231-9800, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Breen, Gerome and Quinn, John P ORCID: 0000-0003-3551-7803 (2013) Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns. BMC EVOLUTIONARY BIOLOGY, 13 (1). 101-.

Ali, Fahad R, Vasiliou, Sylvia A, Haddley, Kate, Paredes, Ursula M, Roberts, Julian C, Miyajima, Fabio, Klenova, Elena, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2010) Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF. Journal of Neurochemistry, 112 (1). pp. 296-306.

Koks, Sulev ORCID: 0000-0001-6087-6643, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2021) Expression Quantitative Trait Loci (eQTLs) Associated with Retrotransposons Demonstrate their Modulatory Effect on the Transcriptome. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22 (12). 6319-.

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Savage, Abigail L ORCID: 0000-0002-2231-9800, Lopez, Ana Illera, Iacoangeli, Alfredo, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Smith, Bradley, Troakes, Claire, Alahmady, Nada, Koks, Sulev ORCID: 0000-0001-6087-6643, Schumann, Gerald G, Al-Chalabi, Ammar et al (show 1 more authors) and Quinn, John P ORCID: 0000-0003-3551-7803 (2020) Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis. MOLECULAR BRAIN, 13 (1). 154-.

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Koks, Gea, Prans, Ele, Ho, Xuan D, Duy, Binh H, Tran, Ha DT, Ngo, Ngoc BT, Hoang, Linh NN, Tran, Hue MT, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 et al (show 1 more authors) and Koks, Sulev ORCID: 0000-0001-6087-6643 (2020) Genetic interaction between two VNTRs in the MAOA gene is associated with the nicotine dependence. EXPERIMENTAL BIOLOGY AND MEDICINE, 245 (8). pp. 733-739.

Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2023) A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 24 (14). 11548-.

Gianfrancesco, Olympia ORCID: 0000-0002-1613-5247, Griffiths, Daniel, Myers, Paul, Collier, David A, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2016) Identification and Potential Regulatory Properties of Evolutionary Conserved Regions (ECRs) at the Schizophrenia-Associated MIR137 Locus. JOURNAL OF MOLECULAR NEUROSCIENCE, 60 (2). pp. 239-247.

Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2020) An Increased Burden of Highly Active Retrotransposition Competent L1s Is Associated with Parkinson's Disease Risk and Progression in the PPMI Cohort. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21 (18). E6562-.

Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2022) Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis. MOLECULAR BRAIN, 15 (1). 25-.

Koks, Sulev ORCID: 0000-0001-6087-6643, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2022) Longitudinal intronic RNA-Seq analysis of Parkinson's disease patients reveals disease-specific nascent transcription. Experimental biology and medicine (Maywood, N.J.), 247 (11). p. 15353702221081027.

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Billingsley, Kimberley J, Barbosa, Ines A, Bandres-Ciga, Sara, Quinn, John P ORCID: 0000-0003-3551-7803, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Deshpande, Charu, Botia, Juan A, Reynolds, Regina H, Zhang, David, Simpson, Michael A et al (show 136 more authors) , Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J Raphael, Nalls, Mike A, Singleton, Andrew, Ryten, Mina, Koks, Sulev ORCID: 0000-0001-6087-6643, Noyce, A, Tucci, A, Middlehurst, B, Kia, D, Tan, M, Houlden, H, Morris, HR, Plun-Favreau, H, Holmans, P, Hardy, J, Trabzuni, D, Bras, J, Mok, K, Kinghorn, K, Wood, N, Lewis, P, Guerreiro, R, Loverin, R, R'Bibo, L, Rizig, M, Escott-Price, V, Chelban, V, Foltynie, T, Williams, N, Brice, A, Danjou, F, Lesage, S, Martinez, M, Giri, A, Schulte, C, Brockmann, K, Simon-Sanchez, J, Heutink, P, Rizzu, P, Sharma, M, Gasser, T, Nicolas, A, Cookson, M, Faghri, F, Hernandez, D, Shulman, J, Robak, L, Lubbe, S, Finkbeiner, S, Mencacci, N, Lungu, C, Scholz, S, Reed, X, Leonard, H, Rouleau, G, Krohan, L, van Hilten, J, Marinus, J, Adarmes-Gomez, A, Aguilar, M, Alvarez, I, Alvarez, V, Javier Barrero, F, Bergareche Yarza, J, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio Bernal, M, Boungiorne, M, Buiza-Rueda, Dolores, Camara, A, Carcel, M, Carrillo, F, Carrion-Claro, M, Cerdan, D, Clarimon, J, Compta, Y, Diez-Fairen, M, Dols-Icardo, O, Duarte, J, Duran, RI, Escamilla-Sevilla, F, Ezquerra, M, Fernandez, M, Fernandez-Santiago, R, Garcia, C, Garcia-Ruiz, P, Gomez-Garre, P, Gomez Heredia, M, Gonzalez-Aramburu, I, Gorostidi Pagola, A, Hoenicka, J, Infante, J, Jesus, S, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, M, Lopez-Sendon, J, de Munain Arregui, A Lopez, Macias, D, Martinez Torres, I, Marin, J, Jose Marti, M, Martinez-Castrillo, J, Mendez-del-Barrio, C, Menendez Gonzalez, M, Minguez, A, Mir, P, Mondragon Rezola, E, Munoz, E, Pagonabarraga, J, Pastor, P, Perez Errazquin, F, Perinan-Tocino, T, Ruiz-Martinez, J, Ruz, C, Sanchez Rodriguez, A, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Pablo Tartari, J, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-Gonzalez, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Taba, P, Majamaa, K, Siitonen, A, Okubadejo, N, Ojo, O and IPDGC, (2019) Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset. NPJ PARKINSONS DISEASE, 5 (1). 8-.

Warburton, Alix, Savage, Abigail L ORCID: 0000-0002-2231-9800, Myers, Paul, Peeney, David, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2015) Molecular signatures of mood stabilisers highlight the role of the transcription factor REST/NRSF. JOURNAL OF AFFECTIVE DISORDERS, 172. pp. 63-73.

Quinn, John P ORCID: 0000-0003-3551-7803, Savage, Abigail L ORCID: 0000-0002-2231-9800 and Bubb, Vivien J ORCID: 0000-0003-2763-7004 (2019) Non-coding genetic variation shaping mental health. CURRENT OPINION IN PSYCHOLOGY, 27. pp. 18-24.

Koks, Sulev ORCID: 0000-0001-6087-6643, Pfaff, Abigail L, Singleton, Lewis M, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2022) Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson's disease. EXPERIMENTAL BIOLOGY AND MEDICINE, 247 (18). pp. 1680-1690.

Fröhlich, Alexander, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2023) Reference LINE-1 insertion polymorphisms correlate with Parkinson's disease progression and differential transcript expression in the PPMI cohort. Scientific reports, 13 (1). p. 13857.

Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643 (2021) Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression. NPJ PARKINSONS DISEASE, 7 (1). 44-.

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Manca, Maurizio, Pessoa, Veridiana, Lopez, Ana Illera, Harrison, Patrick T, Miyajima, Fabio, Sharp, Helen, Pickles, Andrew, Hill, Jonathan, Murgatroyd, Chris, Bubb, Vivien J ORCID: 0000-0003-2763-7004 et al (show 1 more authors) and Quinn, John P ORCID: 0000-0003-3551-7803 (2018) The Regulation of Monoamine Oxidase A Gene Expression by Distinct Variable Number Tandem Repeats. JOURNAL OF MOLECULAR NEUROSCIENCE, 64 (3). pp. 459-470.

Gianfrancesco, Olympia, Geary, Bethany, Savage, Abigail L ORCID: 0000-0002-2231-9800, Billingsley, Kimberley J, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2019) The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 20 (23). E5977-.

Hall, Ashley ORCID: 0000-0003-2962-6384, Moore, Anni K, Hernandez, Dena G, Billingsley, Kimberley J, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2020) A SINE-VNTR-Alu in the LRIG2 Promoter Is Associated with Gene Expression at the Locus. International Journal of Molecular Sciences, 21 (22). p. 8486.

Quinn, John P ORCID: 0000-0003-3551-7803 and Bubb, Vivien J ORCID: 0000-0003-2763-7004 (2014) SVA retrotransposons as modulators of gene expression. Mobile genetic elements, 4 (4). e32102-.

Gianfrancesco, Olympia ORCID: 0000-0002-1613-5247, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2017) SVA retrotransposons as potential modulators of neuropeptide gene expression. NEUROPEPTIDES, 64. pp. 3-7.

Koks, Sulev ORCID: 0000-0001-6087-6643, Pfaff, Abigail L, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2021) Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes. GENES, 12 (3). 423-.

Gianfrancesco, Olympia ORCID: 0000-0002-1613-5247, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2019) Treating the “E” in “G × E”: Trauma-Informed Approaches and Psychological Therapy Interventions in Psychosis. Frontiers in Psychiatry, 10. 9-.

Marshall, Jack NG, Lopez, Ana Illera, Pfaff, Abigail L, Koks, Sulev ORCID: 0000-0001-6087-6643, Quinn, John P ORCID: 0000-0003-3551-7803 and Bubb, Vivien J ORCID: 0000-0003-2763-7004 (2021) Variable number tandem repeats - Their emerging role in sickness and health. EXPERIMENTAL BIOLOGY AND MEDICINE, 246 (12). pp. 1368-1376.

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Marshall, Jack NG, Fröhlich, Alexander, Li, Li, Pfaff, Abigail L, Middlehurst, Ben, Spargo, Thomas P, Iacoangeli, Alfredo, Lang, Bing, Al-Chalabi, Ammar, Koks, Sulev ORCID: 0000-0001-6087-6643 et al (show 2 more authors) , Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803 (2022) A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene <i>CFAP410</i> correlates with differential isoform expression. Frontiers in molecular neuroscience, 15. p. 954928.