Search Results - "PATCH, C"

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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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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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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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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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing by 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.

“…Diagnostic whole genome sequencing (WGS) is increasingly used in rare diseases. However, standard, semi-automated WGS analysis may overlook diagnoses in…”
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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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Assessing the digenic model in rare disorders using population sequencing data by Moreno-Ruiz, Nerea, Lao, Oscar, Aróstegui, Juan Ignacio, Laayouni, Hafid, Casals, Ferran

“…An important fraction of patients with rare disorders remains with no clear genetic diagnostic, even after whole-exome or whole-genome sequencing, posing a…”
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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) by Leggatt, Gary, Cheng, Guo, Narain, Sumit, Briseño-Roa, Luis, Annereau, Jean-Philippe, Gast, Christine, Gilbert, Rodney D., Ennis, Sarah

“…Autosomal recessive whole gene deletions of nephrocystin-1 ( NPHP1 ) result in abnormal structure and function of the primary cilia. These deletions can result…”
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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping by Sanjaya, Prima, Maljanen, Katri, Katainen, Riku, Waszak, Sebastian M, Aaltonen, Lauri A, Stegle, Oliver, Korbel, Jan O, Pitkänen, Esa

“…Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only…”
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Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome by Gibson, Joel T., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Rothe, Hansjörg, Savige, Judy

“…X-linked Alport syndrome is a genetic kidney disease caused by pathogenic COL4A5 variants, but little is known of the consequences of missense variants…”
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Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves by Chan, Melanie M Y, Sadeghi-Alavijeh, Omid, Lopes, Filipa M, Hilger, Alina C, Stanescu, Horia C, Voinescu, Catalin D, Beaman, Glenda M, Newman, William G, Zaniew, Marcin, Weber, Stefanie, Ho, Yee Mang, Connolly, John O, Wood, Dan, Maj, Carlo, Stuckey, Alexander, Kousathanas, Athanasios, Kleta, Robert, Woolf, Adrian S, Bockenhauer, Detlef, Levine, Adam P, Gale, Daniel P

“…Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains…”
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Hematopoietic stem cells develop in the absence of endothelial cadherin 5 expression by Anderson, Heidi, Patch, Taylor C., Reddy, Pavankumar N.G., Hagedorn, Elliott J., Kim, Peter G., Soltis, Kathleen A., Chen, Michael J., Tamplin, Owen J., Frye, Maike, MacLean, Glenn A., Hübner, Kathleen, Bauer, Daniel E., Kanki, John P., Vogin, Guillaume, Huston, Nicholas C., Nguyen, Minh, Fujiwara, Yuko, Paw, Barry H., Vestweber, Dietmar, Zon, Leonard I., Orkin, Stuart H., Daley, George Q., Shah, Dhvanit I.

“…Rare endothelial cells in the aorta-gonad-mesonephros (AGM) transition into hematopoietic stem cells (HSCs) during embryonic development. Lineage tracing…”
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Author Correction: 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.

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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A novel likely pathogenic CLCN5 variant in Dent’s disease by 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

“…Abstract Background The majority of cases of Dent’s disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion…”
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Long Chain Omega-3 Fatty Acid Intervention in Ageing Adults at Risk of Dementia Following Repeated Head Trauma. Low-Level Support or an Opportunity for an Unanswered Question? by Patch, C. S., Hill-Yardin, E. L, Ryan, L., Daly, E., Pearce, Alan J.

“…Emerging evidence of brain injury on risk of neurodegenerative diseases such as Alzheimer’s disease (AD) and chronic traumatic encephalopathy (CTE) have…”
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The genomic landscape of familial glioma by 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

“…Glioma is a rare brain tumor with a poor prognosis. Familial glioma is a subset of glioma with a strong genetic predisposition that accounts for approximately…”
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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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