Mutational signature in colorectal cancer caused by genotoxic pks + E. coli
Pleguezuelos-Manzano, Cayetano, Puschhof, Jens, Rosendahl Huber, Axel, van Hoeck, Arne, Wood, Henry M, Nomburg, Jason, Gurjao, Carino, Manders, Freek, Dalmasso, Guillaume, Stege, Paul B, Paganelli, Fernanda L, Geurts, Maarten H, Beumer, Joep, Mizutani, Tomohiro, Miao, Yi, van der Linden, Reinier, van der Elst, Stefan, Garcia, K Christopher, Top, Janetta, Willems, Rob J L, Giannakis, Marios, Bonnet, Richard, Quirke, Phil, Meyerson, Matthew, Cuppen, Edwin, van Boxtel, Ruben, Clevers, Hans
Published in Nature (London) (01.04.2020)
Published in Nature (London) (01.04.2020)
Get full text
Journal Article
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
Robbe, Pauline, Ridout, Kate E, Vavoulis, Dimitrios V, Dréau, Helene, Kinnersley, Ben, Denny, Nicholas, Chubb, Daniel, Appleby, Niamh, Cutts, Anthony, Cornish, Alex J, Lopez-Pascua, Laura, Clifford, Ruth, Burns, Adam, Stamatopoulos, Basile, Cabes, Maite, Alsolami, Reem, Antoniou, Pavlos, Oates, Melanie, Cavalieri, Doriane, Gibson, Jane, Prabhu, Anika V, Schwessinger, Ron, Jennings, Daisy, James, Terena, Maheswari, Uma, Duran-Ferrer, Martí, Carninci, Piero, Knight, Samantha J L, Månsson, Robert, Hughes, Jim, Davies, James, Ross, Mark, Bentley, David, Strefford, Jonathan C, Devereux, Stephen, Pettitt, Andrew R, Hillmen, Peter, Caulfield, Mark J, Houlston, Richard S, Martín-Subero, José I, Schuh, Anna
Published in Nature genetics (01.11.2022)
Published in Nature genetics (01.11.2022)
Get full text
Journal Article
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Rowlands, Charlie, Thomas, Huw B, Lord, Jenny, Wai, Htoo A, Arno, Gavin, Beaman, Glenda, Sergouniotis, Panagiotis, Gomes-Silva, Beatriz, Campbell, Christopher, Gossan, Nicole, Hardcastle, Claire, Webb, Kevin, O'Callaghan, Christopher, Hirst, Robert A, Ramsden, Simon, Jones, Elizabeth, Clayton-Smith, Jill, Webster, Andrew R, Douglas, Andrew G L, O'Keefe, Raymond T, Newman, William G, Baralle, Diana, Black, Graeme C M, Ellingford, Jamie M
Published in Scientific reports (18.10.2021)
Published in Scientific reports (18.10.2021)
Get full text
Journal Article
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome
Gibson, Joel T, Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S, Chan, Melanie M Y, Sadeghi-Alavijeh, Omid, Gale, Daniel P, Cerkauskaite, Agne, Savige, Judy
Published in Scientific reports (17.02.2022)
Published in Scientific reports (17.02.2022)
Get full text
Journal Article
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
McGuigan, Anthony, Whitworth, James, Andreou, Avgi, Hearn, Timothy, Tischkowitz, Marc, Maher, Eamonn R
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
Get full text
Journal Article
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K, Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T, Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A, Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
Get full text
Journal Article
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Lesurf, Robert, Said, Abdelrahman, Akinrinade, Oyediran, Breckpot, Jeroen, Delfosse, Kathleen, Liu, Ting, Yao, Roderick, Persad, Gabrielle, McKenna, Fintan, Noche, Ramil R, Oliveros, Winona, Mattioli, Kaia, Shah, Shreya, Miron, Anastasia, Yang, Qian, Meng, Guoliang, Yue, Michelle Chan Seng, Sung, Wilson W L, Thiruvahindrapuram, Bhooma, Lougheed, Jane, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John, Jayappa, Shashank, Rao, Vinay J, Shenthar, Jayaprakash, Dhandapany, Perundurai S, Semsarian, Christopher, Weintraub, Robert G, Bagnall, Richard D, Ingles, Jodie, Melé, Marta, Maass, Philipp G, Ellis, James, Scherer, Stephen W, Mital, Seema
Published in Npj genomic medicine (14.03.2022)
Published in Npj genomic medicine (14.03.2022)
Get full text
Journal Article
The genomic landscape of familial glioma
Choi, Dong-Joo, Armstrong, Georgina, Lozzi, Brittney, Vijayaraghavan, Prashanth, Plon, Sharon E, Wong, Terence C, Boerwinkle, Eric, Muzny, Donna M, Chen, Hsiao-Chi, Gibbs, Richard A, Ostrom, Quinn T, Melin, Beatrice, Deneen, Benjamin, Bondy, Melissa L, Bainbridge, Matthew N, Amos, Christopher I, Barnholtz-Sloan, Jill S, Bernstein, Jonine L, Claus, Elizabeth B, Houlston, Richard S, Il'yasova, Dora, Jenkins, Robert B, Johansen, Christoffer, Lachance, Daniel, Lai, Rose, Melin, Beatrice S, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen, Shete, Sanjay, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Brown, M A, Caulfield, M J, Chan, G C, Giess, A, Griffin, J N, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O'Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M
Published in Science advances (28.04.2023)
Published in Science advances (28.04.2023)
Get full text
Journal Article
Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project
Wei, Yuguo, Papachristou, Nikolaos, Mueller, Stefanie, Chang, Wai Hoong, Lai, Alvina G
Published in BMC research notes (02.10.2021)
Published in BMC research notes (02.10.2021)
Get full text
Journal Article
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population
Degasperi, Andrea, Zou, Xueqing, Amarante, Tauanne Dias, Martinez-Martinez, Andrea, Koh, Gene Ching Chiek, Dias, João M L, Heskin, Laura, Chmelova, Lucia, Rinaldi, Giuseppe, Wang, Valerie Ya Wen, Nanda, Arjun S, Bernstein, Aaron, Momen, Sophie E, Young, Jamie, Perez-Gil, Daniel, Memari, Yasin, Badja, Cherif, Shooter, Scott, Czarnecki, Jan, Brown, Matthew A, Davies, Helen R, Nik-Zainal, Serena
Published in Science (American Association for the Advancement of Science) (22.04.2022)
Published in Science (American Association for the Advancement of Science) (22.04.2022)
Get full text
Journal Article
Nucleotide (cDNA) sequence encoding the horse gonadotrophin α-subunit
STEWART, F, THOMSON, J. A, LEIGH, S. E. A, WARWICK, J. M
Published in Journal of endocrinology (01.11.1987)
Published in Journal of endocrinology (01.11.1987)
Get full text
Journal Article
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
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 (08.04.2020)
Published in Nature communications (08.04.2020)
Get full text
Journal Article
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea
Published in Brain (London, England : 1878) (01.12.2023)
Published in Brain (London, England : 1878) (01.12.2023)
Get full text
Journal Article
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
Shoemark, Amelia, Griffin, Helen, Wheway, Gabrielle, Hogg, Claire, Lucas, Jane S, Camps, Carme, Taylor, Jenny, Carroll, Mary, Loebinger, Michael R, Chalmers, James D, Morris-Rosendahl, Deborah, Mitchison, Hannah M, De Soyza, Anthony, Brown, D, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O'Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M
Published in The European respiratory journal (01.11.2022)
Published in The European respiratory journal (01.11.2022)
Get full text
Journal Article
Prevalence and significance of DDX41 gene variants in the general population
Cheloor Kovilakam, Sruthi, Gu, Muxin, Dunn, William G., Marando, Ludovica, Barcena, Clea, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Nik-Zainal, Serena, Mohorianu, Irina, Kar, Siddhartha P., Fabre, Margarete A., Quiros, Pedro M., Vassiliou, George S.
Published in Blood (05.10.2023)
Published in Blood (05.10.2023)
Get full text
Journal Article
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
Trotman, Jamie, Armstrong, Ruth, Firth, Helen, Trayers, Claire, Watkins, James, Allinson, Kieren, Jacques, Thomas S, Nicholson, James C, Burke, G A Amos, Behjati, Sam, Murray, Matthew J, Hook, Catherine E, Tarpey, Patrick
Published in British journal of cancer (01.07.2022)
Published in British journal of cancer (01.07.2022)
Get full text
Journal Article
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease
Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Elhassan, Elhussein A E, Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G, Kistler, Andreas D, Wilson, Ian J, Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Eckardt, Kai-Uwe, Bleyer, Sr, Anthony J, Köttgen, Anna, Conlon, Peter J, Wiesener, Michael, Sayer, John A, Rampoldi, Luca, Devuyst, Olivier
Published in Proceedings of the National Academy of Sciences - PNAS (16.08.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (16.08.2022)
Get full text
Journal Article
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
Vig, Anjali, Poulter, James A, Ottaviani, Daniele, Tavares, Erika, Toropova, Katerina, Tracewska, Anna Maria, Mollica, Antonio, Kang, Jasmine, Kehelwathugoda, Oshini, Paton, Tara, Maynes, Jason T, Wheway, Gabrielle, Arno, Gavin, Khan, Kamron N, McKibbin, Martin, Toomes, Carmel, Ali, Manir, Di Scipio, Matteo, Li, Shuning, Ellingford, Jamie, Black, Graeme, Webster, Andrew, Rydzanicz, Małgorzata, Stawiński, Piotr, Płoski, Rafał, Vincent, Ajoy, Cheetham, Michael E, Inglehearn, Chris F, Roberts, Anthony, Heon, Elise
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
Get full text
Journal Article