Search Results - "Boustred, C."

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer by 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

“…Background Whole-genome sequencing (WGS) of cancers is becoming an accepted component of oncological care, and NHS England is currently rolling out WGS for all…”
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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update by McGuigan, Anthony, Whitworth, James, Andreou, Avgi, Hearn, Timothy, Tischkowitz, Marc, Maher, Eamonn R

“…Multi-locus Inherited Neoplasia Allele Syndrome (MINAS) refers to individuals with germline pathogenic variants in two or more cancer susceptibility…”
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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project by 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

“…Background Genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP). Analysis was restricted to predefined gene…”
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A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly by Ishida, M., Cullup, T., Boustred, C., James, C., Docker, J., English, C., Lench, N., Copp, A.J., Moore, G.E., Greene, N.D.E., Stanier, P.

“…Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong…”
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Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia? by Futema, M, Kumari, M, Boustred, C, Kivimaki, M, Humphries, S.E

“…Abstract A previous report suggested that 88% of individuals in the general population with total cholesterol (TC) > 9.3 mmol/L have familial…”
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Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period by Patch, A.M, Flanagan, S.E, Boustred, C, Hattersley, A.T, Ellard, S

“…Mutations in the ABCC8 gene encoding the SUR1 subunit of the pancreatic ATP-sensitive potassium channel cause permanent neonatal diabetes mellitus (PNDM) and…”
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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 by Wei, Yuguo, Papachristou, Nikolaos, Mueller, Stefanie, Chang, Wai Hoong, Lai, Alvina G

“…The objective of this study was to employ ensemble clustering and tree-based risk model approaches to identify interactions between clinicogenomic features for…”
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OP81 – 2242: Genetic diagnosis in early infantile epileptic encephalopathy and severe neurodevelopmental delay using a gene panel: Our experience and results so far by Trump, N, McTague, A, Kurian, M, Papandreou, A, Cullup, T, Boustred, C, Gomez, B, Jenkins, L, Scott, R

“…Objective The early infantile epileptic encephalopathy (EIEE) syndromes are a heterogeneous group of conditions characterised by intractable seizures and…”
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Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction by MINTON, J. A. L, VAN DE BUNT, M, BOUSTRED, C, HUSSAIN, K, HATTERSLEY, A. T, ELLARD, S, GLOYN, A. L

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Mutational signature in colorectal cancer caused by genotoxic pks+E. coli by 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

“…Various species of the intestinal microbiota have been associated with the development of colorectal cancer 1 , 2 , but it has not been demonstrated that…”
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1.3: Prognostic Value of Carotid-Femoral Pulse Wave Velocity for Cardiovascular Events: An IPD Meta-Analysis of Prospective Observational Data from 14 Studies Including 16,358 Subjects by Ben-Shlomo, Y., Spears, M., Boustred, C., May, M., Anderson, S., Boutouyrie, P., Cameron, J., Chen, C. H., Cockcroft, J. R., Cruickshank, K., Hwang, S. J., Lakatta, E., Laurent, S., Maldonado, J., McEniery, C. M., Mitchell, G., Najjar, S., Newman, A., Ohishi, M., Pannier, B., Pereira, T., Shokawa, T., Sutton-Tyrell, K., Webb, D., Willum-Hansen, T., Zoungas, S., Wilkinson, I. B.

“…We have undertaken an individual participant data (IPD) meta-analysis of carotid-femoral pulse wave velocity (cf-PWV) with all cause mortality, CHD, stroke and…”
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Substitution mutational signatures in whole-genome-sequenced cancers in the UK population by 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

“…Whole-genome sequencing (WGS) permits comprehensive cancer genome analyses, revealing mutational signatures, imprints of DNA damage and repair processes that…”
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Prognostic value of carotid-femoral pulse wave velocity for cardiovascular events: An IPD meta-analysis of prospective observational data from 14 studies including 16,358 subjects by Ben-Shlomo, Y, Spears, M, Boustred, C, May, M, Anderson, S, Boutouyrie, P, Cameron, J, Chen, C.H, Cockcroft, J.R, Cruickshank, K, Hwang, S.J, Lakatta, E, Laurent, S, Maldonado, J, McEniery, C.M, Mitchell, G, Najjar, S, Newman, A, Ohishi, M, Pannier, B, Pereira, T, Shokawa, T, Sutton-Tyrell, K, Webb, D, Willum-Hansen, T, Zoungas, S, Wilkinson, I.B

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Human and mouse essentiality screens as a resource for disease gene discovery by Cacheiro, Pilar, Muñoz-Fuentes, Violeta, Murray, Stephen A., Dickinson, Mary E., Bucan, Maja, Nutter, Lauryl M. J., Peterson, Kevin A., Haselimashhadi, Hamed, Flenniken, Ann M., Morgan, Hugh, Westerberg, Henrik, Konopka, Tomasz, Hsu, Chih-Wei, Christiansen, Audrey, Lanza, Denise G., Beaudet, Arthur L., Heaney, Jason D., Fuchs, Helmut, Gailus-Durner, Valerie, Sorg, Tania, Prochazka, Jan, Novosadova, Vendula, Lelliott, Christopher J., Wardle-Jones, Hannah, Wells, Sara, Teboul, Lydia, Cater, Heather, Stewart, Michelle, Hough, Tertius, Wurst, Wolfgang, Sedlacek, Radislav, Adams, David J., Seavitt, John R., Tocchini-Valentini, Glauco, Mammano, Fabio, Braun, Robert E., McKerlie, Colin, Herault, Yann, de Angelis, Martin Hrabě, Mallon, Ann-Marie, Lloyd, K. C.  Kent, Brown, Steve D. M., Parkinson, Helen, Meehan, Terrence F., Smedley, Damian

“…The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge…”
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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis by 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

“…Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG…”
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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.

“…Several strands of evidence question the dogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recently in three…”
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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis by 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

“…Bronchiectasis can result from infectious, genetic, immunological and allergic causes. 60-80% of cases are idiopathic, but a well-recognised genetic cause is…”
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Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features by 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

“…The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome…”
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Prevalence and significance of DDX41 gene variants in the general population by 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.

“…•We mapped DDX41 germ line variants in 454 792 volunteers and defined the risk of MDS/AML development associated with different variant types.•DDX41-mutant…”
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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders by 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.

“…The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed…”
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