A Fine-Scale Chimpanzee Genetic Map from Population Sequencing

by Auton, Adam, Fledel-Alon, Adi, Pfeifer, Susanne, Venn, Oliver, Ségurel, Laure, Street, Teresa, Leffler, Ellen M., Bowden, Rory, Aneas, Ivy, Broxholme, John, Humburg, Peter, Iqbal, Zamin, Lunter, Gerton, Maller, Julian, Hernandez, Ryan D., Melton, Cord, Venkat, Aarti, Nobrega, Marcelo A., Bontrop, Ronald, Myers, Simon, Donnelly, Peter, Przeworski, Molly, McVean, Gil
Published in Science (American Association for the Advancement of Science)

A practical solution for preserving single cells for RNA sequencing

by Attar, Moustafa, Sharma, Eshita, Li, Shuqiang, Bryer, Claire, Cubitt, Laura, Broxholme, John, Lockstone, Helen, Kinchen, James, Simmons, Alison, Piazza, Paolo, Buck, David, Livak, Kenneth J, Bowden, Rory
Published in Scientific reports

Distinct regulation of hippocampal neuroplasticity and ciliary genes by corticosteroid receptors

by Mifsud, Karen R., Kennedy, Clare L. M., Salatino, Silvia, Sharma, Eshita, Price, Emily M., Haque, Samantha N., Gialeli, Andriana, Goss, Hannah M., Panchenko, Polina E., Broxholme, John, Engledow, Simon, Lockstone, Helen, Cordero Llana, Oscar, Reul, Johannes M. H. M.
Published in Nature communications

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

by Shanks, Morag E, Downes, Susan M, Copley, Richard R, Lise, Stefano, Broxholme, John, Hudspith, Karl Az, Kwasniewska, Alexandra, Davies, Wayne Il, Hankins, Mark W, Packham, Emily R, Clouston, Penny, Seller, Anneke, Wilkie, Andrew Om, Taylor, Jenny C, Ragoussis, Jiannis, Németh, Andrea H
Published in European journal of human genetics : EJHG

Genomic regulation of Krüppel-like-factor family members by corticosteroid receptors in the rat brain

by Kennedy, Clare L M, Price, Emily M, Mifsud, Karen R, Salatino, Silvia, Sharma, Eshita, Engledow, Simon, Broxholme, John, Goss, Hannah M, Reul, Johannes M H M
Published in Neurobiology of stress

Coexpression network analysis in abdominal and gluteal adipose tissue reveals regulatory genetic loci for metabolic syndrome and related phenotypes

by Min, Josine L, Nicholson, George, Halgrimsdottir, Ingileif, Almstrup, Kristian, Petri, Andreas, Barrett, Amy, Travers, Mary, Rayner, Nigel W, Mägi, Reedik, Pettersson, Fredrik H, Broxholme, John, Neville, Matt J, Wills, Quin F, Cheeseman, Jane, Allen, Maxine, Holmes, Chris C, Spector, Tim D, Fleckner, Jan, McCarthy, Mark I, Karpe, Fredrik, Lindgren, Cecilia M, Zondervan, Krina T
Published in PLoS genetics

Host genetic factors and vaccine-induced immunity to hepatitis B virus infection

by Hennig, Branwen J, Fielding, Katherine, Broxholme, John, Diatta, Mathurin, Mendy, Maimuna, Moore, Catrin, Pollard, Andrew J, Rayco-Solon, Pura, Sirugo, Giorgio, van der Sande, Marianne A, Waight, Pauline, Whittle, Hilton C, Zaman, Syed M, Hill, Adrian V, Hall, Andrew J
Published in PloS one

The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits

by Min, Josine L, Taylor, Jennifer M, Richards, J Brent, Watts, Tim, Pettersson, Fredrik H, Broxholme, John, Ahmadi, Kourosh R, Surdulescu, Gabriela L, Lowy, Ernesto, Gieger, Christian, Newton-Cheh, Chris, Perola, Markus, Soranzo, Nicole, Surakka, Ida, Lindgren, Cecilia M, Ragoussis, Jiannis, Morris, Andrew P, Cardon, Lon R, Spector, Tim D, Zondervan, Krina T
Published in PloS one

GLIDERS--a web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs

by Lawrence, Robert, Day-Williams, Aaron G, Mott, Richard, Broxholme, John, Cardon, Lon R, Zeggini, Eleftheria
Published in BMC bioinformatics

A blood atlas of COVID-19 defines hallmarks of disease severity and specificity

by Ai, Zhichao, Ainsworth, Mark, Arancibia-Cárcamo, Carolina V., Attar, Moustafa, Baillie, J. Kenneth, Bashford-Rogers, Rachael, Bicanic, Tihana, Bowness, Paul, Brent, Andrew, Buck, David, Camara, Susana, Clutterbuck, Elizabeth A., Coles, Mark, Conlon, Christopher P., Cribbs, Adam P., Curion, Fabiola, Davenport, Emma E., Davidson, Neil, Davis, Simon, Dendrou, Calliope A., Dequaire, Julie, Docker, James, Dold, Christina, Downes, Damien, Drakesmith, Hal, Dunachie, Susanna J., Espinosa, Alexis, Felle, Sally, Fernandez Mendoza, Maria, Forrow, Aden, Frater, John, Fries, Anastasia, Garner, Lucy C., Godfrey, Leila, Gomez Vazquez, Maria, Green, Angie, Harper, Hong, Heilig, Raphael, Hester, Svenja, Hill, Jennifer, Hinds, Charles, Hird, Clare, Hutton, Paula, Jainarayanan, Ashwin, Jansen, Kathrin, Jones, Elizabeth, Klenerman, Paul, Knight, Julian C., Kumar Sharma, Piyush, Kurupati, Prathiba, Kwok, Andrew, Lee, Angela, Lonie, Lorne, Luo, Jian, Marsden, Brian, Martinez, Jose, Matthews, Philippa C., Mazurczyk, Michalina, McGowan, Simon, Mi, Yuxin, Montadon, Ruddy, O'Brien, Darragh P., Ogg, Graham, Overend, Lauren, Pereira Pinho, Mariana, Perez, Elena, Pollard, Andrew J., Quan, T. Phuong, Revale, Santiago, Silva-Reyes, Laura, Richard, Jean-Baptiste, Rich-Griffin, Charlotte, Salio, Mariolina, Sansom, Stephen Nicholas, Sauka-Spengler, Tatjana, Schwessinger, Ron, Sobrinodiaz, Alberto, Stockdale, Lisa, Strickland, Marie, Sun, Bo, Taylor, Chelsea, Taylor, Stephen, Taylor, Adan, Tomic, Adriana, Tong, Orion, Trebes, Amy, Uhlig, Holm, van Grinsven, Erinke, Vendrell, Iolanda, Verheul, Marije, Wang, Guanlin, Wang, Lihui, Wang, Dapeng, Watkinson, Peter, Watson, Robert, Witty, Lorna, Wray, Katherine, Xue, Luzheng, Young, Rebecca K., Zhang, Ping
Published in Cell

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

by Martin, Hilary C, Kim, Grace E, Pagnamenta, Alistair T, Murakami, Yoshiko, Carvill, Gemma L, Meyer, Esther, Copley, Richard R, Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R, Kronengold, Jack, Brown, Maile R, Hudspith, Karl A, Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C, Shears, Deborah, Stewart, Helen, Kurian, Manju A, Scheffer, Ingrid E, Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K, Taylor, Jenny C
Published in Human molecular genetics

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations

by Pellagatti, Andrea, Armstrong, Richard N., Steeples, Violetta, Sharma, Eshita, Repapi, Emmanouela, Singh, Shalini, Sanchi, Andrea, Radujkovic, Aleksandar, Horn, Patrick, Dolatshad, Hamid, Roy, Swagata, Broxholme, John, Lockstone, Helen, Taylor, Stephen, Giagounidis, Aristoteles, Vyas, Paresh, Schuh, Anna, Hamblin, Angela, Papaemmanuil, Elli, Killick, Sally, Malcovati, Luca, Hennrich, Marco L., Gavin, Anne-Claude, Ho, Anthony D., Luft, Thomas, Hellström-Lindberg, Eva, Cazzola, Mario, Smith, Christopher W.J., Smith, Stephen, Boultwood, Jacqueline
Published in Blood

Correction: Host Genetic Factors and Vaccine-Induced Immunity to Hepatitis B Virus Infection

by Hennig, Branwen J., Fielding, Katherine, Broxholme, John, Diatta, Mathurin, Mendy, Maimuna, Moore, Catrin, Pollard, Andrew J., Rayco-Solon, Pura, Sirugo, Giorgio, van der Sande, Marianne A., Waight, Pauline, Whittle, Hilton C., Zaman, Syed M., Hill, Adrian V., Hall, Andrew J.
Published in PloS one

AICAR confers prophylactic cardioprotection in doxorubicin-induced heart failure in rats

by Choksey, Anurag, Carter, Ryan D., Thackray, Benjamin D., Ball, Vicky, Kennedy, Brett W.C., Ha, Lea Hong Tuan, Sharma, Eshita, Broxholme, John, Castro-Guarda, Marcos, Murphy, Michael P., Heather, Lisa C., Tyler, Damian J., Timm, Kerstin N.
Published in Journal of molecular and cellular cardiology

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

by Wei, Wei, Pagnamenta, Alistair T, Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Tuna, Salih, Odhams, Christopher A, Fratter, Carl, Turro, Ernest, Caulfield, Mark J, Taylor, Jenny C, Rahman, Shamima, Chinnery, Patrick F
Published in Nature communications

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

by van Schouwenburg, Pauline A, Davenport, Emma E, Kienzler, Anne-Kathrin, Marwah, Ishita, Wright, Benjamin, Lucas, Mary, Malinauskas, Tomas, Martin, Hilary C, Lockstone, Helen E, Cazier, Jean-Baptiste, Chapel, Helen M, Knight, Julian C, Patel, Smita Y
Published in Clinical immunology (Orlando, Fla.)

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

by COSSINS, Judith, BELAYA, Katsiaryna, LAVAL, Steven, ZAIN SEIDHAMED, Mohammed, DONNELLY, Peter, BENTLEY, David, MCGOWAN, Simon J, MÜLLER, Juliane, PALACE, Jacqueline, LOCHMÜLLER, Hanns, BEESON, David, HICKS, Debbie, SALIH, Mustafa A, FINLAYSON, Sarah, CARBONI, Nicola, WEI WEI LIU, MAXWELL, Susan, ZOLTOWSKA, Katarzyna, TORABI FARSANI, Golara
Published in Brain (London, England : 1878)

Phenotypic and transcriptomic characterization of canine myeloid-derived suppressor cells

by Goulart, Michelle R, Hlavaty, Sabina I, Chang, Yu-Mei, Polton, Gerry, Stell, Anneliese, Perry, James, Wu, Ying, Sharma, Eshita, Broxholme, John, Lee, Avery C, Szladovits, Balazs, Turmaine, Mark, Gribben, John, Xia, Dong, Garden, Oliver A
Published in Scientific reports

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

by Cazier, J-B, Rao, S R, McLean, C M, Walker, A K, Walker, A L, Wright, B J, Jaeger, E E M, Kartsonaki, C, Marsden, L, Yau, C, Camps, C, Kaisaki, P, Taylor, J, Catto, J W, Tomlinson, I P M, Kiltie, A E, Hamdy, F C
Published in Nature communications

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

by Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.
Published in American journal of human genetics