Specialist Services: Recent submissions

Now showing items 1-20 of 755

    • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores 

      Barnes, D. R.; Silvestri, V.; Leslie, G.; McGuffog, L.; Dennis, J.; Yang, X.; Adlard, J.; Agnarsson, B. A.; Ahmed, M.; Aittomäki, K.; Andrulis, I. L.; Arason, A.; Arnold, N.; Auber, B.; Azzollini, J.; Balmaña, J.; Barkardottir, R. B.; Barrowdale, D.; Barwell, J.; Belotti, M.; Benitez, J.; Berthet, P.; Boonen, S. E.; Borg, Å; Bozsik, A.; Brady, A.; Brennan, P.; Brewer, C.; Brunet, J.; Bucalo, A.; Buys, S. S.; Caldés, T.; Caligo, M. A.; Campbell, I.; Cassingham, H.; Lotte Christensen, L.; Cini, G.; Claes, K. B. M.; Cook, J.; Coppa, A.; Cortesi, L.; Damante, G.; Darder, E.; Davidson, R.; de la Hoya, M.; De Leeneer, K.; de Putter, R.; Del Valle, J.; Diez, O.; Chun Ding, Y.; Domchek, S. M.; Donaldson, A.; Eason, J.; Eeles, R.; Engel, C.; Gareth Evans, D.; Feliubadaló, L.; Fostira, F.; Frone, M.; Frost, D.; Gallagher, D.; Gehrig, A.; Giraud, S.; Glendon, G.; Godwin, A. K.; Goldgar, D. E.; Greene, M. H.; Gregory, H.; Gross, E.; Hahnen, E.; Hamann, U.; Hansen, T. V. O.; Hanson, H.; Hentschel, J.; Horvath, J.; Izatt, L.; Izquierdo, A.; James, P. A.; Janavicius, R.; Birk Jensen, U.; Johannsson, O. T.; John, E. M.; Kramer, G.; Kroeldrup, L.; Kruse, T. A.; Lautrup, C.; Lazaro, C.; Lesueur, F.; Lopez-Fernández, A.; Mai, P. L.; Manoukian, S.; Matrai, Z.; Matricardi, L.; Maxwell, K. N.; Mebirouk, N.; Meindl, A.; Montagna, M.; Monteiro, A. N.; Morrison, P. J.; Muranen, T. A.; Murray, A.; Nathanson, K. L.; Neuhausen, S. L.; Nevanlinna, H.; Nguyen-Dumont, T.; Niederacher, D.; Olah, E.; Olopade, O. I.; Palli, D.; Parsons, M. T.; Sokilde Pedersen, I.; Peissel, B.; Perez-Segura, P.; Peterlongo, P.; Petersen, A. H.; Pinto, P.; Porteous, M. E.; Pottinger, C.; Angel Pujana, M.; Radice, P.; Ramser, J.; Rantala, J.; Robson, M.; Rogers, M. T.; Rønlund, K.; Rump, A.; María Sánchez de Abajo, A.; Shah, P. D.; Sharif, S.; Side, L. E.; Singer, C. F.; Stadler, Z.; Steele, L.; Stoppa-Lyonnet, D.; Sutter, C.; Yen Tan, Y.; Teixeira, M. R.; Teulé, A.; Thull, D. L.; Tischkowitz, M.; Toland, A. E.; Tommasi, S.; Toss, A.; Trainer, A. H.; Tripathi, V.; Valentini, V.; van Asperen, C. J.; Venturelli, M.; Viel, A.; Vijai, J.; Walker, L.; Wang-Gohrke, S.; Wappenschmidt, B.; Whaite, A.; Zanna, I.; Offit, K.; Thomassen, M.; Couch, F. J.; Schmutzler, R. K.; Simard, J.; Easton, D. F.; Chenevix-Trench, G.; Antoniou, A. C.; Ottini, L. (Oxford University Press, 2021-07-28)
      BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 ...

    • Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy 

      Bryen, S. J.; Ewans, L. J.; Pinner, J.; MacLennan, S. C.; Donkervoort, S.; Castro, D.; Töpf, A.; O'Grady, G.; Cummings, B.; Chao, K. R.; Weisburd, B.; Francioli, L.; Faiz, F.; Bournazos, A. M.; Hu, Y.; Grosmann, C.; Malicki, D. M.; Doyle, H.; Witting, N.; Vissing, J.; Claeys, K. G.; Urankar, K.; Beleza-Meireles, A.; Baptista, J.; Ellard, S.; Savarese, M.; Johari, M.; Vihola, A.; Udd, B.; Majumdar, A.; Straub, V.; Bönnemann, C. G.; MacArthur, D. G.; Davis, M. R.; Cooper, S. T. (Wiley, 2020-02-01)
      We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. ...

    • A randomised, double-blind study investigating the relationship between early childhood trauma and the rewarding effects of morphine. 

      Carlyle, Molly; Broomby, Rupert; Simpson, Graham; Hannon, Rachel; Fawaz, Leah; Mollaahmetoglu, O. Merve; Drain, Jade; Mostazir, Mohammod; Morgan, Celia J. A. (Wiley, 2021-06-21)
      Experiences of childhood trauma (abuse and neglect) are disproportionately higher in those with opioid use disorder (OUD). Childhood trauma may affect the reinforcing and rewarding properties of opioid drugs and responses ...

    • Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. 

      Macken, William L.; Godwin, Annie; Wheway, Gabrielle; Stals, Karen; Nazlamova, Liliya; Ellard, Sian; Alfares, Ahmed; Aloraini, Taghrid; AlSubaie, Lamia; Alfadhel, Majid; Alajaji, Sulaiman; Wai, Htoo A.; Self, Jay; Douglas, Andrew G. L.; Kao, Alexander P.; Guille, Matthew; Baralle, Diana (BioMed Central, 2021-02-25)
      BACKGROUND: Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been ...

    • Cardiac-sparing radiotherapy for locally advanced non-small cell lung cancer. 

      Turtle, Louise; Bhalla, Neeraj; Willett, Andrew; Biggar, Robert; Leadbetter, Jonathan; Georgiou, Georgios; Wilson, James M.; Vivekanandan, Sindu; Hawkins, Maria A.; Brada, Michael; Fenwick, John D. (BMC, 2021-06-03)
      BACKGROUND: We have carried out a study to determine the scope for reducing heart doses in photon beam radiotherapy of locally advanced non-small cell lung cancer (LA-NSCLC). MATERIALS AND METHODS: Baseline VMAT plans were ...

    • A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant. 

      Sabir, Ataf H.; Singh, Ananya; Elley, George; Wassemer, Evangeline; Foster, Katharine; Sloman, Melissa; Lim, Derek (Wolters Kluwer, 2021-04-01)

    • An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. 

      Pagnamenta, Alistair T.; Kaiyrzhanov, Rauan; Zou, Yaqun; Da'as, Sahar I.; Maroofian, Reza; Donkervoort, Sandra; Dominik, Natalia; Lauffer, Marlen; Ferla, Matteo P.; Orioli, Andrea; Giess, Adam; Tucci, Arianna; Beetz, Christian; Sedghi, Maryam; Ansari, Behnaz; Barresi, Rita; Basiri, Keivan; Cortese, Andrea; Elgar, Greg; Fernandez-Garcia, Miguel A.; Yip, Janice; Foley, A. Reghan; Gutowski, Nicholas; Jungbluth, Heinz; Lassche, Saskia; Lavin, Tim; Marcelis, Carlo; Marks, Peter; Marini-Bettolo, Chiara; Medne, Livija; Moslemi, Ali-Reza; Sarkozy, Anna; Reilly, Mary M.; Muntoni, Francesco; Millan, Francisca; Muraresku, Colleen C.; Need, Anna C.; Nemeth, Andrea H.; Neuhaus, Sarah B.; Norwood, Fiona; O'Donnell, Marie; O'Driscoll, Mary; Rankin, Julia; Yum, Sabrina W.; Zolkipli-Cunningham, Zarazuela; Brusius, Isabell; Wunderlich, Gilbert; Karakaya, Mert; Wirth, Brunhilde; Fakhro, Khalid A.; Tajsharghi, Homa; Bönnemann, Carsten G.; Taylor, Jenny C.; Houlden, Henry (Oxford University Press, 2021-03-03)
      The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that ...

    • Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective. 

      Fussey, Jonathan Mark; Smith, Joel Anthony; Cleaver, Ruth; Bowles, Christopher; Ellard, Sian; Vaidya, Bijay; Owens, Martina (Wiley, 2020-12-19)
      OBJECTIVE: Diagnostic germline RET analysis is offered to all patients with a diagnosis of medullary thyroid carcinoma (MTC), or other conditions associated with multiple endocrine neoplasia type 2 (MEN2) in the United ...

    • Zanubrutinib for the treatment of MYD88 wild-type Waldenström macroglobulinemia: a substudy of the phase 3 ASPEN trial. 

      Dimopoulos, Meletios; Sanz, Ramon Garcia; Lee, Hui-Peng; Trneny, Marek; Varettoni, Marzia; Opat, Stephen; D'Sa, Shirley; Owen, Roger G.; Cull, Gavin; Mulligan, Stephen; Czyz, Jaroslaw; Castillo, Jorge J.; Motta, Marina; Siddiqi, Tanya; Gironella Mesa, Mercedes; Granell Gorrochategui, Miquel; Talaulikar, Dipti; Zinzani, Pier Luigi; Askari, Elham; Grosicki, Sebastian; Oriol, Albert; Rule, Simon; Kloczko, Janusz; Tedeschi, Alessandra; Buske, Christian; Leblond, Veronique; Trotman, Judith; Chan, Wai Y.; Michel, Jan; Schneider, Jingjing; Tan, Ziwen; Cohen, Aileen; Huang, Jane; Tam, Constantine S. (American Society of Hematology, 2020-12-08)
      Patients with Waldenström macroglobulinemia (WM) lacking activating mutations in the MYD88 gene (MYD88WT) have demonstrated relatively poor outcomes to ibrutinib monotherapy, with no major responses reported in a phase 2 ...

    • Adolescent with abdominal pain poorly responsive to analgesia 

      Chanchlani, Neil; Hart, James W.; McMillan, Christine; Moudiotis, Christopher (HighWire, 2020-12-16)
      Case presentation A 14-year-old boy, with autism spectrum disorder, presented with a 1-day history of colicky abdominal pain, non-bilious vomiting, anorexia and loose normal-coloured stool. Two days previously, he had a ...

    • Outcomes in Patients with Muscle-invasive Bladder Cancer Treated with Neoadjuvant Chemotherapy Followed by (Chemo)radiotherapy in the BC2001 Trial 

      Crundwell, Malcolm (Elsevier Science, 2021-02)
      Background: BC2001 demonstrated improved local control with the addition of chemotherapy to radiotherapy in 360 patients with muscle-invasive bladder cancer. Objective: To establish whether such benefit remained in ...

    • Evaluation of pregnancy outcomes in women with GCK-MODY 

      Colclough, Kevin (Wiley, 2021-06)
      Aims: To determine the fetal and maternal outcomes in pregnant women with Glucokinase-Maturity onset diabetes of the young (GCK-MODY). Methods: We studied the obstetric and perinatal outcomes in 99 pregnancies of 34 ...

    • Managing nonspecific abdominal pain in children and young people 

      Chanchlani, Neil (HighWire, 2020-11-30)

    • The feasibility of online video calling to engage patients with cystic fibrosis in exercise training 

      Tomlinson, O. W.; Shelley, James; Trott, Jayne; Bowhay, Ben; Chauhan, Rohan; Sheldon, Christopher David (Atypon, 2020-07)
      Introduction: Physical activity, including structured exercise, is an essential component in the management of cystic fibrosis. The use of telehealth such as video-calling may be a useful method for the delivery of exercise ...

    • Evaluating variants classified as pathogenic in ClinVar in the DDD Study 

      Wright, Caroline F (Nature Publishing Group, 2021-03)
      Purpose: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may ...

    • Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations 

      Ellard, Sian (HighWire, 2021-05)
      Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence ...

    • Validating the positivity thresholds of drug-tolerant anti-infliximab and anti-adalimumab antibody assays 

      Nice, Rachel; Chanchlani, Neil; Bewshea, Claire; Ahmad, Tariq; Goodhand, James R.; McDonald, Timothy J.; Perry, Mandy; Kennedy, Nicholas A. (Wiley, 2021-01)
      Background: When used proactively, drug-tolerant anti-tumour necrosis factor (TNF) antibody assays provide early opportunity to suppress immunogenicity. Aim: To validate positivity thresholds of IDKmonitor drug-tolerant ...

    • KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation 

      Rankin, Julia; Baple, Emma L. (Oxford University Press, 2020-12-05)
      Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving ...

    • Neoadjuvant chemotherapy plus radical cystectomy versus radical cystectomy alone in clinical T2 bladder cancer without hydronephrosis 

      McGrath, John S (Wiley, 2020-11-05)
      Objectives: To assess the efficacy of neoadjuvant chemotherapy (NAC) before radical cystectomy (RC) in a retrospective multicentre cohort of patients with cT2N0M0 bladder cancer (BCa) without preoperative hydronephrosis. ...

    • No association between SCN9A and monogenic human epilepsy disorders 

      Fasham, James; Crosby, Andrew H.; Baple, Emma L. (Public Library of Science, 2020-11-20)
      Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family ...