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)
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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)
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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)
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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)
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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
Ragoussis, Vassilis, Pagnamenta, Alistair T, Haines, Rebecca L, Giacopuzzi, Edoardo, McClatchey, Martin A, Sampson, Julian R, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E, Taylor, Jenny C, Ambrose, J C, Arumugam, P, Baple, E L, Bleda, M, Boardman-Pretty, F, Boissiere, J M, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Craig, C E H, Daugherty, L C, de Burca, A, Devereau, A, Elgar, G, Foulger, R E, Fowler, T, Furió-Tarí, P, Hackett, J M, Halai, D, Hamblin, A, Henderson, S, Holman, J E, Hubbard, T J P, Ibáñez, K, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, Mason, J, McDonagh, E M, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smedley, D, Smith, K R, Smith, S C, Sosinsky, A, Spooner, W, Stevens, H E, Stuckey, A, Sultana, R, Thomas, E R A, Thompson, S R, Tregidgo, C, Tucci, A, Walsh, E, Watters, S A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M
Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
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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)
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Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2
Hong, Ying, Nanthapisal, Sira, Omoyinmi, Ebun, Olbrich, Peter, Neth, Olaf, Speckmann, Carsten, Lucena, Jose Manuel, Gilmour, Kimberly, Worth, Austen, Klein, Nigel, Eleftheriou, Despina, Brogan, Paul
Published in Frontiers in immunology (11.11.2019)
Published in Frontiers in immunology (11.11.2019)
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Late diagnoses of Dravet syndrome: How many individuals are we missing?
Silvennoinen, Katri, Puvirajasinghe, Clinda, Hudgell, Kirsty, Sidhu, Meneka K., Martins Custodio, Helena, Jones, Wendy D., Balestrini, Simona, Sisodiya, Sanjay M., Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman‐Pretty, F., Boissiere, J. M., Boustred, C. R., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió‐Tarí, P., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady‐Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., Odhams, C. A., Patch, C., Perez‐Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo‐Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Thomas, E. R. A., Thompson, S. R., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K.
Published in Epilepsia open (01.12.2021)
Published in Epilepsia open (01.12.2021)
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