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1. Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Issue 12 (28th June 2022)

Authors:
Best, Sunayna; Yu, Jing; Lord, Jenny; Roche, Matthew; Watson, Christopher Mark; Bevers, Roel P J; Stuckey, Alex; Madhusudhan, Savita; Jewell, Rosalyn; Sisodiya, Sanjay M; Lin, Siying; Turner, Stephen; Robinson, Hannah; Leslie, Joseph S; Baple, Emma; Toomes, Carmel; Inglehearn, Chris; Wheway, Gabr...
Other Names:
author non-byline.; Ambrose JC author non-byline.; Arumugam P author non-byline.; Bevers R author non-byline.; Bleda M author non-byline.; Boardman-Pretty F author non-byline.; Boustred C R author non-byline.; Brittain H author non-byline.; Brown MA author non-byline.; Caulfield MJ author non-by...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 12(2022)
Page Start:
1151
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Using data from the 100, 000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. Issue 4 (5th February 2021)

Authors:
Ragoussis, Vassilis; Pagnamenta, Alistair T; Haines, Rebecca L; Giacopuzzi, Edoardo; McClatchey, Martin A; Sampson, Julian R; Suri, Mohnish; Gardham, Alice; Cobben, Jan-Maarten; Osio, Deborah; Fry, Andrew E; Taylor, Jenny C
Other Names:
author non-byline.; Ambrose J C author non-byline.; Arumugam P author non-byline.; Baple E L author non-byline.; Bleda M author non-byline.; Boardman-Pretty F author non-byline.; Boissiere J M author non-byline.; Boustred C R author non-byline.; Brittain H author non-byline.; Caulfield M J autho...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 4(2022)
Page Start:
366
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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