Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Christopher Mark Watson"'
Publikováno v:
Journal of Medical Genetics. 59:1082-1086
BackgroundThe ever-increasing capacity of short-read sequencing instruments is driving the adoption of whole genome sequencing (WGS) as a universal approach to the diagnosis of rare genetic disorders. However, many challenging genomic regions remain,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b4e878fe81aad79b710f1e83cc0ccd0
https://doi.org/10.1136/jmedgenet-2021-108314
https://doi.org/10.1136/jmedgenet-2021-108314
Autor:
Sunayna, Best, Jing, Yu, Jenny, Lord, Matthew, Roche, Christopher Mark, Watson, Roel P J, Bevers, Alex, Stuckey, Savita, Madhusudhan, Rosalyn, Jewell, Sanjay M, Sisodiya, Siying, Lin, Stephen, Turner, Hannah, Robinson, Joseph S, Leslie, Emma, Baple, Carmel, Toomes, Chris, Inglehearn, Gabrielle, Wheway, S M, Wood
Publikováno v:
Journal of medical genetics. 59(12)
BackgroundThe 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual gene panels were applied to whole genome sequencing data according to Human Phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d0d91afb5b472257a94d3d856669c7e
https://pubmed.ncbi.nlm.nih.gov/35764379
https://pubmed.ncbi.nlm.nih.gov/35764379
Publikováno v:
Journal of Clinical Psychopharmacology. 38:540-542
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d023ab0813e3b49a70cd1d7e436cff19
https://doi.org/10.1097/jcp.0000000000000937
https://doi.org/10.1097/jcp.0000000000000937
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Autor:
Luyckx, Ilse, Walton, Isaac Scott, Boeckx, Nele, Van Schil, Kristof, Chingyiu Pang, De Praeter, Mania, Lord, Helen, Watson, Christopher Mark, Bonthron, David T., Van Laer, Lut, Wilkie, Andrew O. M., Loeys, Bart
Publikováno v:
Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p363-368, 13p
Autor:
Best, Sunayna, Jing Yu, Lord, Jenny, Roche, Matthew, Watson, Christopher Mark, Bevers, Roel P. J., Stuckey, Alex, Madhusudhan, Savita, Jewell, Rosalyn, Sisodiya, Sanjay M., Siying Lin, Turner, Stephen, Robinson, Hannah, Leslie, Joseph S., Baple, Emma, Toomes, Carmel, Inglehearn, Chris, Wheway, Gabrielle, Johnson, Colin A.
Publikováno v:
Journal of Medical Genetics; Dec2022, Vol. 59 Issue 12, p1151-1164, 14p
Autor:
Watson, Christopher Mark, Jackson, Lucy, Crinnion, Laura A., Bonthron, David T., Sheridan, Eamonn
Publikováno v:
Journal of Medical Genetics; Nov2022, Vol. 59 Issue 11, p1082-1086, 5p
Publikováno v:
Journal of Clinical Psychopharmacology; Oct2018, Vol. 38 Issue 5, p540-542, 3p
Autor:
Thomas, David J.
Publikováno v:
Electronics & Power; Apr/May1971, Vol. 17 Issue 4/5, p193-194, 2p
Autor:
Eckett, S.W.
Publikováno v:
Electronics & Power; Apr/May1971, Vol. 17 Issue 4/5, p194-194, 1p