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Results: 17
Cutting through complexity
Anna Spathis, Julie Burkin, Catherine Moffat, Rachel Tuffnell, Stephen Barclay, Jonathan Mant, Sara Booth
May 10, 2021
Abstract: Chronic breathlessness is a distressing symptom that is challenging to manage. The Breathing, Thinking, Functioning clinical model is an educational tool developed to support breathlessness management. Health...
Transferability of genetic risk scores in African populations.
Abram B Kamiza, Sounkou M Toure, Marijana Vujkovic, Tafadzwa Machipisa, Opeyemi S Soremekun, Christopher Kintu, Manuel Corpas, Fraser Pirie, Elizabeth Young, Dipender Gill, Manjinder S Sandhu, Pontiano Kaleebu, Moffat Nyirenda, Ayesha A Motala, Tinashe Chikowore, Segun Fatumo
Jun 17, 2022
The poor transferability of genetic risk scores (GRSs) derived from European ancestry data in diverse populations is a cause of concern. We set out to evaluate whether GRSs derived from data of African American individuals and...
Understanding of prognosis in non-metastatic prostate cancer
Abstract: PREDICT Prostate is an individualised prognostic model that provides long-term survival estimates for men diagnosed with non-metastatic prostate cancer (www.prostate.predict.nhs.uk). In this study clinician estimates...
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W. Ockeloen, Leslie Matalonga, Rita Horvath, Richard J. Rodenburg, Marieke J. H. Coenen, Mirian Janssen, Dylan Henssen, Ida Paramonov, Aurélien Trimouille, Tjitske Kleefstra, Lisenka E. L. M. Vissers, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K. van der Velde, Antonio Vitobello, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Laurence Faivre, Tobias B. Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Anna Lindstrand, Estrella López-Martín, Milan, Jr. Macek, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Alain Verloes, Lisenka Vissers, Klea Vyshka, Birte Zurek
Sep 15, 2021
TemplateFlow
Rastko Ciric, William H Thompson, Romy Lorenz, Mathias Goncalves, Eilidh E MacNicol, Christopher J Markiewicz, Yaroslav O Halchenko, Satrajit S Ghosh, Krzysztof J Gorgolewski, Russell A Poldrack, Oscar Esteban
Dec 08, 2022
CMV-independent increase in CD27−CD28+ CD8+ EMRA T cells is inversely related to mortality in octogenarians
Interferon gamma replacement as salvage therapy in chronic pulmonary aspergillosis
Edward JM Monk, Chris Harris, Rainer Döffinger, Gemma Hayes, David W Denning, Chris Kosmidis
Apr 30, 2020
Chronic pulmonary aspergillosis (CPA) is often poorly responsive to antifungal treatment; secondary infections increase morbidity/mortality, particularly in progressive cases. Interferon gamma (IFNγ) has been implicated in not...
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
Ana Töpf, Angela Pyle, Helen Griffin, Leslie Matalonga, Katherine Schon, Albert Sickmann, Ulrike Schara–Schmidt, Andreas Hentschel, Patrick F. Chinnery, Heike Kölbel, Andreas Roos, Rita Horvath, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Ida Paramonov, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Jonathan Baets, Danique Beijer, Gisèle Bonne, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Henry Houlden, Jarred Lau, Hanns Lochmüller, William L. Macken, Francesco Musacchia, Andres Nascimento, Daniel Natera-de Benito, Vincenzo Nigro, Giulio Piluso, Veronica Pini, Robert D. S. Pitceathly, Kiran Polavarapu, Pedro M. Rodriguez Cruz, Anna Sarkozy, Rita Selvatici, Rachel Thompson, Annalaura Torella, Bjarne Udd, Liedewei Van de Vondel, Jana Vandrovcova, Irina Zaharieva
Sep 15, 2021
Abstract: TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have...
Severe neurodevelopmental disease caused by a homozygous TLK2 variant
Ana Töpf, Yavuz Oktay, Sunitha Balaraju, Elmasnur Yilmaz, Ece Sonmezler, Uluc Yis, Steven Laurie, Rachel Thompson, Andreas Roos, Daniel G. MacArthur, Ahmet Yaramis, Serdal Güngör, Hanns Lochmüller, Semra Hiz, Rita Horvath
Apr 27, 2021
Abstract: A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described....
CMV-independent increase in CD27−CD28+ CD8+ EMRA T cells is inversely related to mortality in octogenarians
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Patrick Chinnery, Huw Morris, Raquel Real, Victoria Harrison, Evan Reid, Nicholas Wood, Jana Vandrovcova, Henry Houlden, Arianna Tucci
Dec 01, 2020
Abstract: Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000...
Transferability of genetic risk scores in African populations.
Abram B Kamiza, Sounkou M Toure, Marijana Vujkovic, Tafadzwa Machipisa, Opeyemi S Soremekun, Christopher Kintu, Manuel Corpas, Fraser Pirie, Elizabeth Young, Dipender Gill, Manjinder S Sandhu, Pontiano Kaleebu, Moffat Nyirenda, Ayesha A Motala, Tinashe Chikowore, Segun Fatumo
Jun 18, 2022
The poor transferability of genetic risk scores (GRSs) derived from European ancestry data in diverse populations is a cause of concern. We set out to evaluate whether GRSs derived from data of African American individuals and...
The mutational landscape of melanoma brain metastases presenting as the first visceral site of recurrence
Roy Rabbie, Peter Ferguson, Kim Wong, Dominique-Laurent Couturier, Una Moran, Clinton Turner, Patrick Emanuel, Kerstin Haas, Jodi M. Saunus, Morgan R. Davidson, Sunil R. Lakhani, Brindha Shivalingam, Georgina V. Long, Christine Parkinson, Iman Osman, Richard A. Scolyer, Pippa Corrie, David J. Adams
Jan 05, 2021
Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication
D. Gareth Evans, Maria Edwards, Stephen W. Duffy, Marc Tischkowitz, Julian Adlard, Munaza Ahmed, Julian Barwell, Angela Brady, Paul Brennan, Carole Brewer, Jacqueline Cook, Tabib Dabir, Rosemarie Davidson, Alan Donaldson, Angela George, David Goudie, Lynn Greenhalgh, Dorothy Halliday, Helen Hanson, Rachel Harrison, Anju Kulkarni, Fiona Lalloo, Kai Ren Ong, Zosia Miedzybrodzka, Alex Murray, Mary Porteous, Lucy Side, Katie Snape
Nov 25, 2020
Abstract: The National Institute of health and Care Excellence issued guidelines on familial breast cancer screening in 2004. Such guidelines should be uniformly implemented to ensure that members of the same family with the...
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A. Barbosa, Charu Deshpande, Robert W. Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Atchayaram Nalini, Hanns Lochmüller
Sep 15, 2020
Abstract: Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate...