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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-.

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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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Hunt, Guy P, Grassi, Luigi, Henkin, Rafael, Smeraldi, Fabrizio, Spargo, Thomas P, Kabiljo, Renata, Koks, Sulev ORCID: 0000-0001-6087-6643, Ibrahim, Zina, Dobson, Richard JB, Al-Chalabi, Ammar et al (show 2 more authors) , Barnes, Michael R and Iacoangeli, Alfredo (2022) GEOexplorer: a webserver for gene expression analysis and visualisation. NUCLEIC ACIDS RESEARCH, 50 (W1). W367-W374.

Jones, Ashley R, Iacoangeli, Alfredo, Adey, Brett N ORCID: 0000-0003-4356-4079, Bowles, Harry, Shatunov, Aleksey ORCID: 0000-0002-2671-8040, Troakes, Claire, Garson, Jeremy A, McCormick, Adele L and Al-Chalabi, Ammar (2021) A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex. Scientific reports, 11 (1). 14283-.

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Harvey, Calum, Weinreich, Marcel, Lee, James AK, Shaw, Allan C, Ferraiuolo, Laura, Mortiboys, Heather ORCID: 0000-0001-6439-0579, Zhang, Sai, Hop, Paul J, Zwamborn, Ramona AJ, van Eijk, Kristel et al (show 16 more authors) , Julian, Thomas H, Moll, Tobias, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Quinn, John P ORCID: 0000-0003-3551-7803, Pfaff, Abigail L, Kõks, Sulev, Poulton, Joanna, Battle, Stephanie L, Arking, Dan E, Snyder, Michael P, Project MinE ALS Sequencing Consortium, , Veldink, Jan H, Kenna, Kevin P, Shaw, Pamela J and Cooper-Knock, Johnathan ORCID: 0000-0002-0873-8689 (2024) Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis. Heliyon, 10 (3). e24975-.

Kabiljo, Renata, Bowles, Harry, Marriott, Heather, Jones, Ashley, Dobson, Richard JB, Quinn, John P ORCID: 0000-0003-3551-7803, Swanson, Chad M, Al Khleifat, Ahmad, Al Chalabi, Ammar and Iacoangeli, Alfredo (2022) RetroSnake: A Modular End-to-End Pipeline for Detection of Human Endogenous Retrovirus (HERV) Transposable Elements in Next Generation Sequencing (NGS) Data. iScience, 25 (11). 105289-.

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Kabiljo, Renata ORCID: 0000-0002-5183-4844, Bowles, Harry, Marriott, Heather, Jones, Ashley R, Bouton, Clement R ORCID: 0000-0001-9607-6533, Dobson, Richard JB, Quinn, John P ORCID: 0000-0003-3551-7803, Al Khleifat, Ahmad ORCID: 0000-0002-7406-9831, Swanson, Chad M, Al-Chalabi, Ammar et al (show 1 more authors) and Iacoangeli, Alfredo ORCID: 0000-0002-5280-5017 (2022) RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data. iScience, 25 (11). 105289-.

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Al Khleifat, Ahmad ORCID: 0000-0002-7406-9831, Iacoangeli, Alfredo, van Vugt, Joke JFA, Bowles, Harry, Moisse, Matthieu ORCID: 0000-0001-8880-9311, Zwamborn, Ramona AJ, van der Spek, Rick AA ORCID: 0000-0001-9983-204X, Shatunov, Aleksey ORCID: 0000-0002-2671-8040, Cooper-Knock, Johnathan ORCID: 0000-0002-0873-8689, Topp, Simon et al (show 37 more authors) , Byrne, Ross ORCID: 0000-0002-4082-6072, Gellera, Cinzia, López, Victoria ORCID: 0000-0001-8129-8352, Jones, Ashley R ORCID: 0000-0003-0470-0058, Opie-Martin, Sarah, Vural, Atay ORCID: 0000-0003-3222-874X, Campos, Yolanda, van Rheenen, Wouter ORCID: 0000-0002-5860-1533, Kenna, Brendan ORCID: 0000-0001-7591-2221, Van Eijk, Kristel R, Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E ORCID: 0000-0003-0216-5717, Dobson, Richard ORCID: 0000-0003-4224-9245, van Es, Michael A ORCID: 0000-0002-7709-5883, McLaughlin, Russell L ORCID: 0000-0003-3915-2135, Vourc'h, Patrick ORCID: 0000-0001-7960-8139, Chio, Adriano ORCID: 0000-0001-9579-5341, Corcia, Philippe, de Carvalho, Mamede ORCID: 0000-0001-7556-0158, Gotkine, Marc ORCID: 0000-0003-2541-6232, Panades, Monica P, Mora, Jesus S ORCID: 0000-0001-6633-5354, Shaw, Pamela J, Landers, John E ORCID: 0000-0001-8084-5043, Glass, Jonathan D ORCID: 0000-0002-3295-4971, Shaw, Christopher E, Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip ORCID: 0000-0002-4010-2357, van den Berg, Leonard H, Veldink, Jan H ORCID: 0000-0001-5572-9657 and Al-Chalabi, Ammar ORCID: 0000-0002-4924-7712 (2022) Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. NPJ genomic medicine, 7 (1). 8-.

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Marriott, Heather, Kabiljo, Renata, Hunt, Guy P, Khleifat, Ahmad Al, Jones, Ashley, Troakes, Claire, Project MinE ALS Sequencing Consortium, , TargetALS Sequencing Consortium, , Pfaff, Abigail L, Quinn, John P ORCID: 0000-0003-3551-7803 et al (show 5 more authors) , Koks, Sulev ORCID: 0000-0001-6087-6643, Dobson, Richard J, Schwab, Patrick, Al-Chalabi, Ammar and Iacoangeli, Alfredo ORCID: 0000-0002-5280-5017 (2023) Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data. Acta neuropathologica communications, 11 (1). 208-.

Bowles, Harry, Kabiljo, Renata, Al Khleifat, Ahmad, Jones, Ashley, Quinn, John P ORCID: 0000-0003-3551-7803, Dobson, Richard JB, Swanson, Chad M, Al-Chalabi, Ammar and Iacoangeli, Alfredo (2023) An assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data. Frontiers in bioinformatics, 2. p. 1062328.

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Iacoangeli, Alfredo ORCID: 0000-0002-5280-5017, Fogh, Isabella, Selvackadunco, Sashika, Topp, Simon D, Shatunov, Aleksey ORCID: 0000-0002-2671-8040, van Rheenen, Wouter, Al-Khleifat, Ahmad, Opie-Martin, Sarah, Ratti, Antonia, Calvo, Andrea ORCID: 0000-0002-5122-7243 et al (show 16 more authors) , UK Brain Expression Consortium, , Van Damme, Philip ORCID: 0000-0002-4010-2357, Robberecht, Wim, Chio, Adriano, Dobson, Richard J ORCID: 0000-0003-4224-9245, Hardiman, Orla, Shaw, Christopher E, van den Berg, Leonard H, Andersen, Peter M, Smith, Bradley N, Silani, Vincenzo, Veldink, Jan H, Breen, Gerome, Troakes, Claire, Al-Chalabi, Ammar ORCID: 0000-0002-4924-7712 and Jones, Ashley R (2021) <i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed. Brain communications, 3 (4). fcab236-.

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Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D, Abel, Olubunmi, Mayl, Keith, Mehta, Puja R, Shatunov, Aleksey ORCID: 0000-0002-2671-8040, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi et al (show 39 more authors) , Spargo, Thomas P, Al-Khleifat, Ahmad, Williams, Kelly L, Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A, Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J, Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H, Landers, John E, Glass, Jonathan D, Mora, Jesus S, Robberecht, Wim, Van Damme, Philip, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H, Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P, Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A, Siddique, Teepu, Miller, Timothy, Brown, Robert H, Al-Chalabi, Ammar and Shaw, Christopher E (2022) The <i>SOD1</i>-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. NATURE COMMUNICATIONS, 13 (1). 6901-.

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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.