Zobrazeno 1 - 10
of 499
pro vyhledávání: '"Christopher M, Watson"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/ae98ccf478114e91999448594736ce88
Publikováno v:
Trauma Case Reports, Vol 46, Iss , Pp 100858- (2023)
Externí odkaz:
https://doaj.org/article/522782b4779545c8bf549fe74c18d8f0
Autor:
Benjamin McClinton, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A. Poulter, Claire E. L. Smith, Manir Ali, Christopher M. Watson, Chris F. Inglehearn, Carmel Toomes
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background The widespread adoption of exome sequencing has greatly increased the rate of genetic diagnosis for inherited conditions. However, the detection and validation of large deletions remains challenging. While numerous bioinformatics
Externí odkaz:
https://doaj.org/article/30974ac5421d42c3bd08091e0d58f9b9
Autor:
Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
Abstract Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replica
Externí odkaz:
https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4
Autor:
Lesley M Chapman, Noah Spies, Patrick Pai, Chun Shen Lim, Andrew Carroll, Giuseppe Narzisi, Christopher M Watson, Christos Proukakis, Wayne E Clarke, Naoki Nariai, Eric Dawson, Garan Jones, Daniel Blankenberg, Christian Brueffer, Chunlin Xiao, Sree Rohit Raj Kolora, Noah Alexander, Paul Wolujewicz, Azza E Ahmed, Graeme Smith, Saadlee Shehreen, Aaron M Wenger, Marc Salit, Justin M Zook
Publikováno v:
PLoS Computational Biology, Vol 16, Iss 6, p e1007933 (2020)
A high quality benchmark for small variants encompassing 88 to 90% of the reference genome has been developed for seven Genome in a Bottle (GIAB) reference samples. However a reliable benchmark for large indels and structural variants (SVs) is more c
Externí odkaz:
https://doaj.org/article/b08f9ccca37e4727afc897d6fa521024
Autor:
Kieran Walker, Anoop Mistry, Christopher M. Watson, Fatima Nadat, Eleanor O’Callaghan, Matthew Care, Laura A. Crinnion, Gururaj Arumugakani, David T. Bonthron, Clive Carter, Gina M. Doody, Sinisa Savic
Publikováno v:
Journal of Clinical Immunology.
Background The human CD19 antigen is expressed throughout B cell ontogeny with the exception of neoplastic plasma cells and a subset of normal plasma cells. CD19 plays a role in propagating signals from the B cell receptor and other receptors such as
Autor:
Christopher M. Watson, Fatima Nadat, Sammiya Ahmed, Laura A. Crinnion, Sean O’Riordan, Clive Carter, Sinisa Savic
Publikováno v:
Genes & Immunity. 23:66-72
XMEN (X-linked immunodeficiency with magnesium defect) is caused by loss-of-function mutations in MAGT1 which is encoded on the X chromosome. The disorder is characterised by CD4 lymphopenia, severe chronic viral infections and defective T-lymphocyte
Autor:
Sunayna Best, Chris F. Inglehearn, Christopher M. Watson, Carmel Toomes, Gabrielle Wheway, Colin A. Johnson
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:5-8
Autor:
Benjamin McClinton, Christopher M. Watson, Laura A. Crinnion, Martin McKibbin, Manir Ali, Chris F. Inglehearn, Carmel Toomes
Publikováno v:
Laboratory Investigation. 103:100160
Autor:
Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin, Daan M. Panneman, Susanne Roosing, Erica G. M. Boonen, Manir Ali, Christopher M. Watson, David H. Steel, Frans P. M. Cremers, Chris F. Inglehearn, Rebekkah J. Hitti-Malin, Carmel Toomes
Publikováno v:
Genes; Volume 14; Issue 1; Pages: 191
Genes, 14, 1
Genes, 14
Genes
Genes, 14, 1
Genes, 14
Genes
Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in id