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)
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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
Pagnamenta, Alistair T, Yu, Jing, Evans, Julie, Twiss, Philip, Offiah, Amaka C, Wafik, Mohamed, Mehta, Sarju G, Javaid, Mohammed K, Smithson, Sarah F, Taylor, Jenny C, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Elgar, G, 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, J F, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O’Donovan, P, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, 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, Alexander, 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, Balasubramanian, M, Bubbear, J, Burren, C, Calder, A, Fairhurst, J, Gevers, E, Hunt, D, Irving, M, Javaid, MK, Mohsin, Z, Offiah, A C, Pagnamenta, AT, Sabir, A, Shears, D, Smithson, S F, Suri, M, Taylor, JC, Wilkie, A, Wilson, L
Published in Journal of medical genetics (01.05.2023)
Published in Journal of medical genetics (01.05.2023)
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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
Chrystal, Paul W, Lambacher, Nils J, Doucette, Lance P, Bellingham, James, Schiff, Elena R, Noel, Nicole C L, Li, Chunmei, Tsiropoulou, Sofia, Casey, Geoffrey A, Zhai, Yi, Nadolski, Nathan J, Majumder, Mohammed H, Tagoe, Julia, D'Esposito, Fabiana, Cordeiro, Maria Francesca, Downes, Susan, Clayton-Smith, Jill, Ellingford, Jamie, Mahroo, Omar A, Hocking, Jennifer C, Cheetham, Michael E, Webster, Andrew R, Jansen, Gert, Blacque, Oliver E, Allison, W Ted, Au, Ping Yee Billie, MacDonald, Ian M, Arno, Gavin, Leroux, Michel R
Published in Nature communications (03.11.2022)
Published in Nature communications (03.11.2022)
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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A, Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E, Mark, Paul, Harr, Margaret H, Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A, Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H, di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C E, Thompson, Michelle L, Chassevent, Anna, Smith-Hicks, Constance L, de la Cruz, Xavier, Holtz, Alexander M, Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L, Heller, Elizabeth A, Saade, Murielle, Song, Hongjun, Ming, Guo-Li, Alkuraya, Fowzan S, Agrawal, Pankaj B, Reinberg, Danny, Bhoj, Elizabeth J, Martínez-Balbás, Marian A, Akizu, Naiara
Published in Nature communications (11.07.2023)
Published in Nature communications (11.07.2023)
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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Macken, William L, Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E, Patel, Yogen, Labrum, Robyn, Phadke, Rahul, Reilly, Mary M, DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Vandrovcova, Jana, Pitceathly, Robert D S
Published in Nature communications (07.11.2022)
Published in Nature communications (07.11.2022)
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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire, Lopez, Javier, Hunt, Sarah E, Short, Patrick, Sergouniotis, Panagiotis I, Michaelides, Michel, Webster, Andrew, Cunningham, Fiona, Ramsden, Simon C, Kasperaviciute, Dalia, Fitzpatrick, David R, Black, Graeme C, Ellingford, Jamie M, 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 Journal of medical genetics (01.08.2023)
Published in Journal of medical genetics (01.08.2023)
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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Seaby, Eleanor G., Thomas, N. Simon, Webb, Amy, Brittain, Helen, Taylor Tavares, Ana Lisa, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Published in Human genetics (01.03.2023)
Published in Human genetics (01.03.2023)
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A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
Leggatt, Gary, Cheng, Guo, Narain, Sumit, Briseño-Roa, Luis, Annereau, Jean-Philippe, Gast, Christine, Gilbert, Rodney D, Ennis, Sarah
Published in Scientific reports (09.06.2023)
Published in Scientific reports (09.06.2023)
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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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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping
Sanjaya, Prima, Maljanen, Katri, Katainen, Riku, Waszak, Sebastian M, Aaltonen, Lauri A, Stegle, Oliver, Korbel, Jan O, Pitkänen, Esa
Published in Genome medicine (07.07.2023)
Published in Genome medicine (07.07.2023)
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Dynamics of liquid drop spreading in metal-metal systems
Ambrose, J.C., Nicholas, M.G., Stoneham, A.M.
Published in Acta metallurgica et materialia (01.08.1993)
Published in Acta metallurgica et materialia (01.08.1993)
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A novel likely pathogenic CLCN5 variant in Dent’s disease
Hayward, S, Norton, J, Bownass, L, Platt, C, 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 BMC nephrology (28.08.2023)
Published in BMC nephrology (28.08.2023)
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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)
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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina H. Z., Heaton, Robert A., Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B., Stingl, Katarina, 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., Hoyng, Carel B., Mahroo, Omar A., Hargreaves, Iain, Raymond, F. Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R., Arno, Gavin
Published in Npj genomic medicine (20.10.2022)
Published in Npj genomic medicine (20.10.2022)
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Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population
Lam, Tanya, Rocca, Clarissa, Ibanez, Kristina, Dalmia, Anupriya, Tallman, Samuel, Hadjivassiliou, Marios, Hensiek, Anke, Nemeth, Andrea, Facchini, Stefano, Wood, Nicholas, Cortese, Andrea, Houlden, Henry, Tucci, Arianna
Published in Brain communications (2023)
Published in Brain communications (2023)
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