Editorial: A Journey Through 50 Years of Structural Bioinformatics in Memoriam of Cyrus Chothia by Alfredo Iacoangeli, Alfredo Iacoangeli, Alfredo Iacoangeli, Paolo Marcatili, Charlotte Deane, Arthur M. Lesk, Annalisa Pastore, Annalisa Pastore, Sarah A. Teichmann, Sarah A. Teichmann

Get full text

Amyotrophic lateral sclerosis and cerebellum by Renata Kabiljo, Alfredo Iacoangeli, Ammar Al-Chalabi, Ivana Rosenzweig

Get full text

A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis by Daniel M. Bean, Ammar Al-Chalabi, Richard J. B. Dobson, Alfredo Iacoangeli

Get full text

An assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data by Harry Bowles, Renata Kabiljo, Renata Kabiljo, Ahmad Al Khleifat, Ashley Jones, John P. Quinn, Richard J. B. Dobson, Richard J. B. Dobson, Richard J. B. Dobson, Richard J. B. Dobson, Chad M. Swanson, Ammar Al-Chalabi, Ammar Al-Chalabi, Alfredo Iacoangeli, Alfredo Iacoangeli, Alfredo Iacoangeli

Get full text

A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression by Jack N. G. Marshall, Alexander Fröhlich, Li Li, Li Li, Abigail L. Pfaff, Abigail L. Pfaff, Ben Middlehurst, Thomas P. Spargo, Thomas P. Spargo, Thomas P. Spargo, Alfredo Iacoangeli, Alfredo Iacoangeli, Alfredo Iacoangeli, Bing Lang, Ammar Al-Chalabi, Ammar Al-Chalabi, Sulev Koks, Sulev Koks, Vivien J. Bubb, John P. Quinn

Get full text

Calculating variant penetrance from family history of disease and average family size in population-scale data by Thomas P. Spargo, Sarah Opie-Martin, Harry Bowles, Cathryn M. Lewis, Alfredo Iacoangeli, Ammar Al-Chalabi

Get full text

VariantSurvival: a tool to identify genotype–treatment response by Thomas Krannich, Marina Herrera Sarrias, Hiba Ben Aribi, Moustafa Shokrof, Alfredo Iacoangeli, Ammar Al-Chalabi, Fritz J. Sedlazeck, Ben Busby, Ahmad Al Khleifat

Get full text

Author Correction: A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex by Ashley R. Jones, Alfredo Iacoangeli, Brett N. Adey, Harry Bowles, Aleksey Shatunov, Claire Troakes, Jeremy A. Garson, Adele L. McCormick, Ammar Al‑Chalabi

Get full text

A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex by Ashley R. Jones, Alfredo Iacoangeli, Brett N. Adey, Harry Bowles, Aleksey Shatunov, Claire Troakes, Jeremy A. Garson, Adele L. McCormick, Ammar Al-Chalabi

Get full text

Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis by Abigail L. Savage, Ana Illera Lopez, Alfredo Iacoangeli, Vivien J. Bubb, Bradley Smith, Claire Troakes, Nada Alahmady, Sulev Koks, Gerald G. Schumann, Ammar Al-Chalabi, John P. Quinn

Get full text

RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data by Renata Kabiljo, Harry Bowles, Heather Marriott, Ashley R. Jones, Clement R. Bouton, Richard J.B. Dobson, John P. Quinn, Ahmad Al Khleifat, Chad M. Swanson, Ammar Al-Chalabi, Alfredo Iacoangeli

Get full text

Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression by Munishikha Kalia, Mattia Miotto, Deborah Ness, Sarah Opie-Martin, Thomas P. Spargo, Lorenzo Di Rienzo, Tommaso Biagini, Francesco Petrizzelli, Ahmad Al Khleifat, Renata Kabiljo, Tommaso Mazza, Giancarlo Ruocco, Edoardo Milanetti, Richard JB Dobson, Ammar Al-Chalabi, Alfredo Iacoangeli

Get full text

Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival by Brett N. Adey, Brett N. Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, Isabella Fogh, Philip van Damme, Philip van Damme, Philip van Damme, Philippe Corcia, Philippe Corcia, Philippe Couratier, Philippe Couratier, Orla Hardiman, Russell McLaughlin, Marc Gotkine, Marc Gotkine, Vivian Drory, Vivian Drory, Vincenzo Silani, Vincenzo Silani, Nicola Ticozzi, Nicola Ticozzi, Jan H. Veldink, Leonard H. van den Berg, Mamede de Carvalho, Susana Pinto, Jesus S. Mora Pardina, Mónica Povedano Panades, Peter M. Andersen, Markus Weber, Nazli A. Başak, Christopher E. Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass, Patrick Vourc’h, Patrick Vourc’h, Richard J. B. Dobson, Richard J. B. Dobson, Richard J. B. Dobson, Richard J. B. Dobson, Gerome Breen, Ammar Al-Chalabi, Ammar Al-Chalabi, Ashley R. Jones, Alfredo Iacoangeli, Alfredo Iacoangeli, Alfredo Iacoangeli

Get full text

Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data by Heather Marriott, Renata Kabiljo, Guy P Hunt, Ahmad Al Khleifat, Ashley Jones, Claire Troakes, Project MinE ALS Sequencing Consortium, TargetALS Sequencing Consortium, Abigail L Pfaff, John P Quinn, Sulev Koks, Richard J Dobson, Patrick Schwab, Ammar Al-Chalabi, Alfredo Iacoangeli

Get full text

Co-targeting HSP90 alpha and CDK7 overcomes resistance against HSP90 inhibitors in BCR-ABL1+ leukemia cells by Melina Vogt, Niklas Dienstbier, Julian Schliehe-Diecks, Katerina Scharov, Jia-Wey Tu, Philip Gebing, Julian Hogenkamp, Berna-Selin Bilen, Silke Furlan, Daniel Picard, Marc Remke, Layal Yasin, David Bickel, Munishikha Kalia, Alfredo Iacoangeli, Thomas Lenz, Kai Stühler, Aleksandra A. Pandyra, Julia Hauer, Ute Fischer, Rabea Wagener, Arndt Borkhardt, Sanil Bhatia

Get full text

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders by Jonathan Gilley, Oscar Jackson, Menelaos Pipis, Mehrdad A Estiar, Ammar Al-Chalabi, Matt C Danzi, Kristel R van Eijk, Stephen A Goutman, Matthew B Harms, Henry Houlden, Alfredo Iacoangeli, Julia Kaye, Leandro Lima, Queen Square Genomics, John Ravits, Guy A Rouleau, Rebecca Schüle, Jishu Xu, Stephan Züchner, Johnathan Cooper-Knock, Ziv Gan-Or, Mary M Reilly, Michael P Coleman

Get full text

Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis by Calum Harvey, Marcel Weinreich, James A.K. Lee, Allan C. Shaw, Laura Ferraiuolo, Heather Mortiboys, Sai Zhang, Paul J. Hop, Ramona A.J. Zwamborn, Kristel van Eijk, Thomas H. Julian, Tobias Moll, Alfredo Iacoangeli, Ahmad Al Khleifat, John P. Quinn, Abigail L. Pfaff, Sulev Kõks, Joanna Poulton, Stephanie L. Battle, Dan E. Arking, Michael P. Snyder, Jan H. Veldink, Kevin P. Kenna, Pamela J. Shaw, Johnathan Cooper-Knock

Get full text

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data by Ahmad Al Khleifat, Alfredo Iacoangeli, Alfredo Iacoangeli, Ashley R. Jones, Joke J. F. A. van Vugt, Matthieu Moisse, Matthieu Moisse, Aleksey Shatunov, Aleksey Shatunov, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Johnathan Cooper-Knock, Simon Topp, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Ross Byrne, Victoria López, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Markus Weber, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Adriano Chio, Philippe Corcia, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica Povedano Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Orla Hardiman, Wim Robberecht, Wim Robberecht, Philip Van Damme, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi, Ammar Al-Chalabi

Get full text

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene by Johnathan Cooper-Knock, Sai Zhang, Kevin P. Kenna, Tobias Moll, John P. Franklin, Samantha Allen, Helia Ghahremani Nezhad, Alfredo Iacoangeli, Nancy Y. Yacovzada, Chen Eitan, Eran Hornstein, Eran Ehilak, Petra Celadova, Daniel Bose, Sali Farhan, Simon Fishilevich, Doron Lancet, Karen E. Morrison, Christopher E. Shaw, Ammar Al-Chalabi, Jan H. Veldink, Janine Kirby, Michael P. Snyder, Pamela J. Shaw, Ian Blair, Naomi Wray, Matthew Kiernan, Miguel Mitne Neto, Adriano Chio, Ruben Cauchi, Wim Robberecht, Philip van Damme, Phillippe Corcia, Phillipe Couratier, Orla Hardiman, Russel McLaughlin, Marc Gotkine, Vivan Drory, Nicola Ticozzi, Vincenzo Silani, Jan Veldink, Leonard van den Berg, Mamede de Carvalho, Jesus Mora Pardina, Monica Povedano, Peter Andersen, Markus Wber, Nazli Başak, Ammar Al-Chalabi, Christopher Shaw, Pamela Shaw, Karen Morrison, John Landers, Jonathan Glass

Get full text

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype by Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R. Heath, Adrian Higginbottom, Theresa Walsh, Mbombe Kazoka, Project MinE ALS Sequencing Consortium, Paul G. Ince, Guillaume M. Hautbergue, Christopher J. McDermott, Janine Kirby, Pamela J. Shaw, Ahmad Al Kheifat, Ammar Al-Chalabi, Nazli Basak, Ian Blair, Annelot Dekker, Orla Hardiman, Winston Hide, Alfredo Iacoangeli, Kevin Kenna, John Landers, Russel McLaughlin, Jonathan Mill, Bas Middelkoop, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Sara Pulit, Aleksey Shatunov, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristelvan Eijk, Michael van Es, Wouter van Rheenen, Joke van Vugt, Jan Veldink, Maarten Kooyman, Jonathan Glass, Wim Robberecht, Marc Gotkine, Vivian Drory, Matthew Kiernan, Miguel Mitne Neto, Mayana Ztaz, Philippe Couratier, Philippe Corcia, Vincenzo Silani, Adriano Chio, Mamede de Carvalho, Susana Pinto, Alberto Garcia Redondo, Peter Andersen, Markus Weber, Nicola Ticozzi

Get full text