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Author/Creator Knight, Samantha J. L.

1. Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities. Issue 10 (23rd August 2016)

Authors:
Pagnamenta, Alistair T.; Howard, Malcolm F.; Knight, Samantha J. L.; Keays, David A.; Quaghebeur, Gerardine; Taylor, Jenny C.; Kini, Usha
Journal:
Clinical case reports
Issue:
Volume 4:Issue 10(2016)
Page Start:
952
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL. (29th May 2018)

Authors:
Klintman, Jenny; Barmpouti, Katerina; Knight, Samantha J. L.; Robbe, Pauline; Dreau, Hélène; Clifford, Ruth; Ridout, Kate; Burns, Adam; Timbs, Adele; Bruce, David; Antoniou, Pavlos; Sosinsky, Alona; Becq, Jennifer; Bentley, David; Hillmen, Peter; Taylor, Jenny C.; Caulfield, Mark; Schuh, Anna H.
Journal:
British journal of haematology
Issue:
Volume 182:Number 3(2018)
Page Start:
412
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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