Zobrazeno 1 - 10
of 67
pro vyhledávání: '"N. Simon Thomas"'
Autor:
Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-11 (2022)
Abstract Background Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving the clinical interpretation of
Externí odkaz:
https://doaj.org/article/dfdeeb798f424c30af5b1c761fbdb704
Autor:
Nisreen Rumman, Mahmoud R. Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman, Adel Adwan, Mutaz Albakri, Jagrati Chopra, Regan Doherty, Bishara Fashho, Grace M. Freke, Abdallah Hasaballah, Claire L. Jackson, Mai A. Mohamed, Reda Abu Nema, Mitali P. Patel, Reuben J. Pengelly, Ahmad Qaaqour, Bruna Rubbo, N. Simon Thomas, James Thompson, Woolf T. Walker, Gabrielle Wheway, Hannah M. Mitchison, Jane S. Lucas
Publikováno v:
ERJ Open Research, Vol 9, Iss 2 (2023)
Background Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population. Methods Individuals with symptoms suggestive of PCD
Externí odkaz:
https://doaj.org/article/f2c51f09226b40409f9747ca8c6802ba
Autor:
Eleanor G. Seaby, N. Simon Thomas, David Hunt, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria, Sarah Ennis
Publikováno v:
Healthcare, Vol 11, Iss 24, p 3179 (2023)
Genome sequencing is available as a clinical test in the UK through the Genomic Medicine Service (GMS). The GMS analytical strategy predominantly filters genome data on preselected gene panels. Whilst this reduces variants requiring assessment by rep
Externí odkaz:
https://doaj.org/article/29844f4be4574ee08a1216a85f60e6e5
Autor:
Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting f
Externí odkaz:
https://doaj.org/article/8ddc9109fec74dd780fb8658772b15c8
Autor:
David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn, N. Simon Thomas
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-9 (2021)
Abstract Background Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved non-coding sequences both upstream and downstream of the gene. Downstream deletio
Externí odkaz:
https://doaj.org/article/3e92f1e1c41c4fc8bfbb3cd6724d9103
Autor:
Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Genomics England Research Consortium, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker, Jane S. Lucas
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-21 (2021)
Abstract Background It is estimated that 1–13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD is a disorder caus
Externí odkaz:
https://doaj.org/article/225939c427e1410e88b00eb4517acfc3
Autor:
Eleanor G, Seaby, N Simon, Thomas, Amy, Webb, Helen, Brittain, Ana Lisa, Taylor Tavares, Diana, Baralle, Heidi L, Rehm, Anne, O'Donnell-Luria, S M, Wood
Publikováno v:
Human genetics.
Genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP). Analysis was restricted to predefined gene panels associated with the patient's phenotype. However, panels rely on clearly characterised phenotypes
Autor:
Laura A, Devlin, Janice, Coles, Claire L, Jackson, Miguel, Barroso-Gil, Ben, Green, Woolf T, Walker, N Simon, Thomas, James, Thompson, Simon A, Rock, Ruxandra, Neatu, Laura, Powell, Elisa, Molinari, Ian J, Wilson, Heather J, Cordell, Eric, Olinger, Colin G, Miles, John A, Sayer, Gabrielle, Wheway, Jane S, Lucas
Publikováno v:
Clinical geneticsREFERENCES.
Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting the brain, kidney, a
Autor:
Bruno Ferraz-de-Souza, Katrin Koehler, Elizabeth Crowne, Charles R. Buchanan, Nils Krone, Jeremy Allgrove, Edward T Andrews, P. K. Shah, N. Simon Thomas, Jenifer P. Suntharalingham, Tony Hulse, Angela Huebner, John C. Achermann, Adrian J. L. Clark, Peter E. Clayton, John Gregory, Tim Cheetham, Louise A. Metherell, Rathi Prasad, Avinaash Maharaj, M Guftar Shaikh, Peter C. Hindmarsh, Mehul T. Dattani, Catherine Roberts, Li F. Chan, Claire Hughes, Justin H Davies, Younus Qamar, Lin Lin, Federica Buonocore
Publikováno v:
Journal of the Endocrine Society
Context Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions is poorly understood. Obje
Autor:
Jenny Lord, Reuben J. Pengelly, Jelmer Legebeke, N. Simon Thomas, William J. Tapper, Man-Kim Cheung, Liliya Nazlamova, Gabrielle Wheway
Publikováno v:
Human Genetics
Ciliopathies are a broad range of inherited developmental and degenerative diseases associated with structural or functional defects in motile or primary non-motile cilia. There are around 200 known ciliopathy disease genes and whilst genetic testing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1b81e45342c35b2e435da723416fb0f
https://eprints.soton.ac.uk/444838/
https://eprints.soton.ac.uk/444838/