Search Results - "TAYLOR, Jenny C"

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom by Schwarze, Katharina, Buchanan, James, Fermont, Jilles M., Dreau, Helene, Tilley, Mark W., Taylor, John M., Antoniou, Pavlos, Knight, Samantha J. L., Camps, Carme, Pentony, Melissa M., Kvikstad, Erika M., Harris, Steve, Popitsch, Niko, Pagnamenta, Alistair T., Schuh, Anna, Taylor, Jenny C., Wordsworth, Sarah

“…Purpose The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of…”
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Sequencing of human genomes with nanopore technology by Bowden, Rory, Davies, Robert W., Heger, Andreas, Pagnamenta, Alistair T., de Cesare, Mariateresa, Oikkonen, Laura E., Parkes, Duncan, Freeman, Colin, Dhalla, Fatima, Patel, Smita Y., Popitsch, Niko, Ip, Camilla L. C., Roberts, Hannah E., Salatino, Silvia, Lockstone, Helen, Lunter, Gerton, Taylor, Jenny C., Buck, David, Simpson, Michael A., Donnelly, Peter

“…Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in diagnostic contexts and to inform treatment choice. Here we evaluate the…”
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Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia by Klintman, Jenny, Appleby, Niamh, Stamatopoulos, Basile, Ridout, Katie, Eyre, Toby A., Robbe, Pauline, Pascua, Laura Lopez, Knight, Samantha J.L., Dreau, Helene, Cabes, Maite, Popitsch, Niko, Ehinger, Mats, Martín-Subero, Jose I., Campo, Elías, Månsson, Robert, Rossi, Davide, Taylor, Jenny C., Vavoulis, Dimitrios V., Schuh, Anna

“…The transformation of chronic lymphocytic leukemia (CLL) to high-grade B-cell lymphoma is known as Richter syndrome (RS), a rare event with dismal prognosis…”
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Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations by Camps, Carme, Petousi, Nayia, Bento, Celeste, Cario, Holger, Copley, Richard R, McMullin, Mary Frances, van Wijk, Richard, Ratcliffe, Peter J, Robbins, Peter A, Taylor, Jenny C

“…Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated hemoglobin concentration and hematocrit. Several genetic variants have…”
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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response by Temko, Daniel, Van Gool, Inge C, Rayner, Emily, Glaire, Mark, Makino, Seiko, Brown, Matthew, Chegwidden, Laura, Palles, Claire, Depreeuw, Jeroen, Beggs, Andrew, Stathopoulou, Chaido, Mason, John, Baker, Ann‐Marie, Williams, Marc, Cerundolo, Vincenzo, Rei, Margarida, Taylor, Jenny C, Schuh, Anna, Ahmed, Ahmed, Amant, Frédéric, Lambrechts, Diether, Smit, Vincent THBM, Bosse, Tjalling, Graham, Trevor A, Church, David N, Tomlinson, Ian

“…Genomic instability, which is a hallmark of cancer, is generally thought to occur in the middle to late stages of tumourigenesis, following the acquisition of…”
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Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study by Mackley, Michael P, Blair, Edward, Parker, Michael, Taylor, Jenny C, Watkins, Hugh, Ormondroyd, Elizabeth

“…With large-scale genome sequencing initiatives underway, vast amounts of genomic data are being generated. Results-including secondary findings (SF)-are being…”
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Human slack potassium channel mutations increase positive cooperativity between individual channels by Kim, Grace E, Kronengold, Jack, Barcia, Giulia, Quraishi, Imran H, Martin, Hilary C, Blair, Edward, Taylor, Jenny C, Dulac, Olivier, Colleaux, Laurence, Nabbout, Rima, Kaczmarek, Leonard K

“…Disease-causing mutations in ion channels generally alter intrinsic gating properties such as activation, inactivation, and voltage dependence. We examined…”
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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders by Pagnamenta, Alistair T, Murakami, Yoshiko, Taylor, John M, Anzilotti, Consuelo, Howard, Malcolm F, Miller, Venessa, Johnson, Diana S, Tadros, Shereen, Mansour, Sahar, Temple, I Karen, Firth, Rachel, Rosser, Elisabeth, Harrison, Rachel E, Kerr, Bronwen, Popitsch, Niko, Kinoshita, Taroh, Taylor, Jenny C, Kini, Usha

“…Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of…”
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A high throughput screen for active human transposable elements by Kvikstad, Erika M, Piazza, Paolo, Taylor, Jenny C, Lunter, Gerton

“…Transposable elements (TEs) are mobile genetic sequences that randomly propagate within their host's genome. This mobility has the potential to affect gene…”
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Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service by Hamblin, Angela, Wordsworth, Sarah, Fermont, Jilles M, Page, Suzanne, Kaur, Kulvinder, Camps, Carme, Kaisaki, Pamela, Gupta, Avinash, Talbot, Denis, Middleton, Mark, Henderson, Shirley, Cutts, Anthony, Vavoulis, Dimitrios V, Housby, Nick, Tomlinson, Ian, Taylor, Jenny C, Schuh, Anna

“…Single gene tests to predict whether cancers respond to specific targeted therapies are performed increasingly often. Advances in sequencing technology,…”
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A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency by Pagnamenta, Alistair T., Yu, Jing, Willis, Tracey A., Hashim, Mona, Seaby, Eleanor G., Walker, Susan, Xian, Jiaqi, Cheng, Emily W. Y., Tavares, Ana Lisa Taylor, Forzano, Francesca, Cox, Helen, Dabir, Tabib, Brady, Angela F., Ghali, Neeti, Atanur, Santosh S., Ennis, Sarah, Baralle, Diana, Taylor, Jenny C.

“…SRRM2 encodes a splicing factor recently implicated in developmental disorders due to a statistical enrichment of de novo mutations. Using data from the…”
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Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation by Howard, Malcolm F., Murakami, Yoshiko, Pagnamenta, Alistair T., Daumer-Haas, Cornelia, Fischer, Björn, Hecht, Jochen, Keays, David A., Knight, Samantha J.L., Kölsch, Uwe, Krüger, Ulrike, Leiz, Steffen, Maeda, Yusuke, Mitchell, Daphne, Mundlos, Stefan, Phillips, John A., Robinson, Peter N., Kini, Usha, Taylor, Jenny C., Horn, Denise, Kinoshita, Taroh, Krawitz, Peter M.

“…Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the…”
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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome by Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen

“…Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic…”
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome by Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.

“…Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal…”
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Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma by Roberts, Hannah E., Lopopolo, Maria, Pagnamenta, Alistair T., Sharma, Eshita, Parkes, Duncan, Lonie, Lorne, Freeman, Colin, Knight, Samantha J. L., Lunter, Gerton, Dreau, Helene, Lockstone, Helen, Taylor, Jenny C., Schuh, Anna, Bowden, Rory, Buck, David

“…Recent advances in throughput and accuracy mean that the Oxford Nanopore Technologies PromethION platform is a now a viable solution for genome sequencing…”
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A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability by Davies, Benjamin, Brown, Laurence A, Cais, Ondrej, Watson, Jake, Clayton, Amber J, Chang, Veronica T, Biggs, Daniel, Preece, Christopher, Hernandez-Pliego, Polinka, Krohn, Jon, Bhomra, Amarjit, Twigg, Stephen R F, Rimmer, Andrew, Kanapin, Alexander, Sen, Arjune, Zaiwalla, Zenobia, McVean, Gil, Foster, Russell, Donnelly, Peter, Taylor, Jenny C, Blair, Edward, Nutt, David, Aricescu, A Radu, Greger, Ingo H, Peirson, Stuart N, Flint, Jonathan, Martin, Hilary C

“…The discovery of genetic variants influencing sleep patterns can shed light on the physiological processes underlying sleep. As part of a large clinical…”
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Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter by Rodríguez Cruz, Pedro M., Hughes, Imelda, Manzur, Adnan, Munot, Pinki, Ramdas, Sithara, Wright, Ronnie, Breen, Catherine, Pitt, Mathew, Pagnamenta, Alistair T., Taylor, Jenny C., Palace, Jacqueline, Beeson, David

“…•This report provides three novel pathogenic variants in SLC5A7 causing CMS type 20.•CMS type 20 is remarkably variable in clinical phenotype, severity and…”
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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease by Shanks, Morag E, Downes, Susan M, Copley, Richard R, Lise, Stefano, Broxholme, John, Hudspith, Karl Az, Kwasniewska, Alexandra, Davies, Wayne Il, Hankins, Mark W, Packham, Emily R, Clouston, Penny, Seller, Anneke, Wilkie, Andrew Om, Taylor, Jenny C, Ragoussis, Jiannis, Németh, Andrea H

“…Inherited retinal degeneration (IRD) is a common cause of visual impairment (prevalence ∼1/3500). There is considerable phenotype and genotype heterogeneity,…”
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Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature by Schwarze, Katharina, Buchanan, James, Taylor, Jenny C, Wordsworth, Sarah

“…Purpose We conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome…”
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Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods by Shields, Adrian M, Pagnamenta, Alistair T, Pollard, Andrew J, Taylor, Jenny C, Allroggen, Holger, Patel, Smita Y

“…Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections…”
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