Now showing items 1-20 of 28

    • A genomic atlas of human adrenal and gonad development. 

      Del Valle, I; Buonocore, F; Duncan, AJ; Lin, L; Barenco, M; Parnaik, R; Shah, S; Hubank, M; Gerrelli, D; Achermann, JC (2017-04-07)
      Background In humans, the adrenal glands and gonads undergo distinct biological events between 6-10 weeks post conception (wpc), such as testis determination, the onset of steroidogenesis and primordial germ cell development. ...
    • A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations. 

      George, SL; Izquierdo, E; Campbell, J; Koutroumanidou, E; Proszek, P; Jamal, S; Hughes, D; Yuan, L; Marshall, LV; Carceller, F; Chisholm, JC; Vaidya, S; Mandeville, H; Angelini, P; Wasti, A; Bexelius, T; Thway, K; Gatz, SA; Clarke, M; Al-Lazikani, B; Barone, G; Anderson, J; Tweddle, DA; Gonzalez, D; Walker, BA; Barton, J; Depani, S; Eze, J; Ahmed, SW; Moreno, L; Pearson, A; Shipley, J; Jones, C; Hargrave, D; Jacques, TS; Hubank, M; Chesler, L (2019-11)
      BACKGROUND:For children with cancer, the clinical integration of precision medicine to enable predictive biomarker-based therapeutic stratification is urgently needed. METHODS:We have developed a hybrid-capture next-generation ...
    • Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): a multicentre, multicohort, phase 2a, platform trial. 

      Turner, NC; Kingston, B; Kilburn, LS; Kernaghan, S; Wardley, AM; Macpherson, IR; Baird, RD; Roylance, R; Stephens, P; Oikonomidou, O; Braybrooke, JP; Tuthill, M; Abraham, J; Winter, MC; Bye, H; Hubank, M; Gevensleben, H; Cutts, R; Snowdon, C; Rea, D; Cameron, D; Shaaban, A; Randle, K; Martin, S; Wilkinson, K; Moretti, L; Bliss, JM; Ring, A (2020-10)
      Background Circulating tumour DNA (ctDNA) testing might provide a current assessment of the genomic profile of advanced cancer, without the need to repeat tumour biopsy. We aimed to assess the accuracy of ctDNA testing in ...
    • Circulating tumour DNA is a potential biomarker for disease progression and response to targeted therapy in advanced thyroid cancer. 

      Allin, DM; Shaikh, R; Carter, P; Thway, K; Sharabiani, MTA; Gonzales-de-Castro, D; O'Leary, B; Garcia-Murillas, I; Bhide, S; Hubank, M; Harrington, K; Kim, D; Newbold, K (2018-11)
      Background Conventional biomarkers in thyroid cancer are not disease specific and fluctuate in advanced disease, making interpretation difficult. Circulating tumour DNA (ctDNA) has been shown to be a useful biomarker in ...
    • Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy. 

      Balestrini, S; Koepp, MJ; Gandhi, S; Rickman, HM; Shin, GY; Houlihan, CF; Anders-Cannon, J; Silvennoinen, K; Xiao, F; Zagaglia, S; Hudgell, K; Ziomek, M; Haimes, P; Sampson, A; Parker, A; Helen Cross, J; Pardington, R; Nastouli, E; Swanton, C; Crick COVID Consortium (CCC); Sander, JW; Sisodiya, SM; ChAlfont keepS vulnerAble People safe (ASAP) Consortium:
      In this cohort study, we aim to compare outcomes from coronavirus disease 2019 (COVID-19) in people with severe epilepsy and other co-morbidities living in long-term care facilities which all implemented early preventative ...
    • Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours. 

      Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; Brooks, T; Kristiansen, M; Chalker, J; Wilkhu, L; Mifsud, W; Apps, J; Thom, M; Hubank, M; Forshew, T; Cross, JH; Hargrave, D; Ham, J; Jacques, TS (2018-01)
      Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic ...
    • Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis. 

      Morfopoulou, S; Mee, ET; Connaughton, SM; Brown, JR; Gilmour, K; Chong, WKK; Duprex, WP; Ferguson, D; Hubank, M; Hutchinson, C; Kaliakatsos, M; McQuaid, S; Paine, S; Plagnol, V; Ruis, C; Virasami, A; Zhan, H; Jacques, TS; Schepelmann, S; Qasim, W; Breuer, J (2017-01)
      Routine childhood vaccination against measles, mumps and rubella has virtually abolished virus-related morbidity and mortality. Notwithstanding this, we describe here devastating neurological complications associated with ...
    • Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours. 

      Izquierdo, E; Yuan, L; George, S; Hubank, M; Jones, C; Proszek, P; Shipley, J; Gatz, SA; Stinson, C; Moore, AS; Clifford, SC; Hicks, D; Lindsey, JC; Hill, RM; Jacques, TS; Chalker, J; Thway, K; O'Connor, S; Marshall, L; Moreno, L; Pearson, A; Chesler, L; Walker, BA; De Castro, DG (2017-12-06)
      The implementation of personalised medicine in childhood cancers has been limited by a lack of clinically validated multi-target sequencing approaches specific for paediatric solid tumours. In order to support innovative ...
    • Droplet digital PCR-based detection of circulating tumor DNA from pediatric high grade and diffuse midline glioma patients. 

      Izquierdo, E; Proszek, P; Pericoli, G; Temelso, S; Clarke, M; Carvalho, DM; Mackay, A; Marshall, LV; Carceller, F; Hargrave, D; Lannering, B; Pavelka, Z; Bailey, S; Entz-Werle, N; Grill, J; Vassal, G; Rodriguez, D; Morgan, PS; Jaspan, T; Mastronuzzi, A; Vinci, M; Hubank, M; Jones, C (2021-01-27)
      Background The use of liquid biopsy is of potential high importance for children with high grade (HGG) and diffuse midline gliomas (DMG), particularly where surgical procedures are limited, and invasive biopsy sampling not ...
    • Eye on the B-ALL: B-cell receptor repertoires reveal persistence of numerous B-lymphoblastic leukemia subclones from diagnosis to relapse. 

      Bashford-Rogers, RJM; Nicolaou, KA; Bartram, J; Goulden, NJ; Loizou, L; Koumas, L; Chi, J; Hubank, M; Kellam, P; Costeas, PA; Vassiliou, GS (2016-12)
      The strongest predictor of relapse in B-cell acute lymphoblastic leukemia (B-ALL) is the level of persistence of tumor cells after initial therapy. The high mutation rate of the B-cell receptor (BCR) locus allows high-resolution ...
    • Genomic Classification and Clinical Outcome in Rhabdomyosarcoma: A Report From an International Consortium. 

      Shern, JF; Selfe, J; Izquierdo, E; Patidar, R; Chou, H-C; Song, YK; Yohe, ME; Sindiri, S; Wei, J; Wen, X; Rudzinski, ER; Barkauskas, DA; Lo, T; Hall, D; Linardic, CM; Hughes, D; Jamal, S; Jenney, M; Chisholm, J; Brown, R; Jones, K; Hicks, B; Angelini, P; George, S; Chesler, L; Hubank, M; Kelsey, A; Gatz, SA; Skapek, SX; Hawkins, DS; Shipley, JM; Khan, J
      Purpose Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood. Despite aggressive therapy, the 5-year survival rate for patients with metastatic or recurrent disease remains poor, and beyond <i>PAX-FOXO1</i> ...
    • Genomic profile of advanced breast cancer in circulating tumour DNA. 

      Kingston, B; Cutts, RJ; Bye, H; Beaney, M; Walsh-Crestani, G; Hrebien, S; Swift, C; Kilburn, LS; Kernaghan, S; Moretti, L; Wilkinson, K; Wardley, AM; Macpherson, IR; Baird, RD; Roylance, R; Reis-Filho, JS; Hubank, M; Faull, I; Banks, KC; Lanman, RB; Garcia-Murillas, I; Bliss, JM; Ring, A; Turner, NC (2021-04-23)
      The genomics of advanced breast cancer (ABC) has been described through tumour tissue biopsy sequencing, although these approaches are limited by geographical and temporal heterogeneity. Here we use plasma circulating ...
    • High throughput sequencing in acute lymphoblastic leukemia reveals clonal architecture of central nervous system and bone marrow compartments. 

      Bartram, J; Goulden, N; Wright, G; Adams, S; Brooks, T; Edwards, D; Inglott, S; Yousafzai, Y; Hubank, M; Halsey, C (2018-03)
    • Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer. 

      Chopra, N; Tovey, H; Pearson, A; Cutts, R; Toms, C; Proszek, P; Hubank, M; Dowsett, M; Dodson, A; Daley, F; Kriplani, D; Gevensleben, H; Davies, HR; Degasperi, A; Roylance, R; Chan, S; Tutt, A; Skene, A; Evans, A; Bliss, JM; Nik-Zainal, S; Turner, NC (2020-05-29)
      Triple negative breast cancer (TNBC) encompasses molecularly different subgroups, with a subgroup harboring evidence of defective homologous recombination (HR) DNA repair. Here, within a phase 2 window clinical trial, RIO ...
    • Human Coronavirus OC43 Associated with Fatal Encephalitis. 

      Morfopoulou, S; Brown, JR; Davies, EG; Anderson, G; Virasami, A; Qasim, W; Chong, WK; Hubank, M; Plagnol, V; Desforges, M; Jacques, TS; Talbot, PJ; Breuer, J (2016-08)
    • Identification of a novel genetic locus associated with immune mediated thrombotic thrombocytopenic purpura. 

      Stubbs, MJ; Coppo, P; Cheshire, C; Veyradier, A; Dufek, S; Levine, AP; Thomas, M; Patel, V; Connolly, JO; Hubank, M; Benhamou, Y; Galicier, L; Poullin, P; Kleta, R; Gale, DP; Stanescu, H; Scully, MA (2021-02-18)
      Not available.
    • Inactivating <i>NF1</i> Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance. 

      Pearson, A; Proszek, P; Pascual, J; Fribbens, C; Shamsher, MK; Kingston, B; O'Leary, B; Herrera-Abreu, MT; Cutts, RJ; Garcia-Murillas, I; Bye, H; Walker, BA; Gonzalez De Castro, D; Yuan, L; Jamal, S; Hubank, M; Lopez-Knowles, E; Schuster, EF; Dowsett, M; Osin, P; Nerurkar, A; Parton, M; Okines, AFC; Johnston, SRD; Ring, A; Turner, NC (2020-02)
      Purpose Advanced breast cancer (ABC) has not been subjected to the same degree of molecular scrutiny as early primary cancer. Breast cancer evolves with time and under the selective pressure of treatment, with the potential ...
    • Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes. 

      Clarke, M; Mackay, A; Ismer, B; Pickles, JC; Tatevossian, RG; Newman, S; Bale, TA; Stoler, I; Izquierdo, E; Temelso, S; Carvalho, DM; Molinari, V; Burford, A; Howell, L; Virasami, A; Fairchild, AR; Avery, A; Chalker, J; Kristiansen, M; Haupfear, K; Dalton, JD; Orisme, W; Wen, J; Hubank, M; Kurian, KM; Rowe, C; Maybury, M; Crosier, S; Knipstein, J; Schüller, U; Kordes, U; Kram, DE; Snuderl, M; Bridges, L; Martin, AJ; Doey, LJ; Al-Sarraj, S; Chandler, C; Zebian, B; Cairns, C; Natrajan, R; Boult, JKR; Robinson, SP; Sill, M; Dunkel, IJ; Gilheeney, SW; Rosenblum, MK; Hughes, D; Proszek, PZ; Macdonald, TJ; Preusser, M; Haberler, C; Slavc, I; Packer, R; Ng, H-K; Caspi, S; Popović, M; Faganel Kotnik, B; Wood, MD; Baird, L; Davare, MA; Solomon, DA; Olsen, TK; Brandal, P; Farrell, M; Cryan, JB; Capra, M; Karremann, M; Schittenhelm, J; Schuhmann, MU; Ebinger, M; Dinjens, WNM; Kerl, K; Hettmer, S; Pietsch, T; Andreiuolo, F; Driever, PH; Korshunov, A; Hiddingh, L; Worst, BC; Sturm, D; Zuckermann, M; Witt, O; Bloom, T; Mitchell, C; Miele, E; Colafati, GS; Diomedi-Camassei, F; Bailey, S; Moore, AS; Hassall, TEG; Lowis, SP; Tsoli, M; Cowley, MJ; Ziegler, DS; Karajannis, MA; Aquilina, K; Hargrave, DR; Carceller, F; Marshall, LV; von Deimling, A; Kramm, CM; Pfister, SM; Sahm, F; Baker, SJ; Mastronuzzi, A; Carai, A; Vinci, M; Capper, D; Popov, S; Ellison, DW; Jacques, TS; Jones, DTW; Jones, C (2020-07)
      Infant high-grade gliomas appear clinically distinct from their counterparts in older children, indicating that histopathologic grading may not accurately reflect the biology of these tumors. We have collected 241 cases ...
    • Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor Cells. 

      Welby, E; Lakowski, J; Di Foggia, V; Budinger, D; Gonzalez-Cordero, A; Lun, ATL; Epstein, M; Patel, A; Cuevas, E; Kruczek, K; Naeem, A; Minneci, F; Hubank, M; Jones, DT; Marioni, JC; Ali, RR; Sowden, JC (2017-12)
      Loss of cone photoreceptors, crucial for daylight vision, has the greatest impact on sight in retinal degeneration. Transplantation of stem cell-derived L/M-opsin cones, which form 90% of the human cone population, could ...
    • Lineage-Independent Tumors in Bilateral Neuroblastoma. 

      Coorens, THH; Farndon, SJ; Mitchell, TJ; Jain, N; Lee, S; Hubank, M; Sebire, N; Anderson, J; Behjati, S (2020-11)
      Childhood tumors that occur synchronously in different anatomical sites usually represent metastatic disease. However, such tumors can be independent neoplasms. We investigated whether cases of bilateral neuroblastoma ...