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Author/Creator Kernohan, Kristin D.

21. Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy. Issue 5 (11th February 2021)

Authors:
McMillan, Hugh J.; Marshall, Aren E.; Venkateswaran, Sunita; Hartley, Taila; Warman‐Chardon, Jodi; Ramani, Arun K.; Marshall, Christian R.; Michaud, Jean; Boycott, Kym M.; Dyment, David A.; Kernohan, Kristin D.
Journal:
Clinical genetics
Issue:
Volume 99:Issue 5(2021)
Page Start:
746
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

22. Whole‐transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Issue 6 (28th March 2017)

Authors:
Kernohan, Kristin D.; Frésard, Laure; Zappala, Zachary; Hartley, Taila; Smith, Kevin S.; Wagner, Justin; Xu, Hongbin; McBride, Arran; Bourque, Pierre R.; Consortium, Care4Rare Canada; Bennett, Steffany A. L.; Dyment, David A.; Boycott, Kym M.; Montgomery, Stephen B.; Warman Chardon, Jodi
Journal:
Human mutation
Issue:
Volume 38:Issue 6(2017)
Page Start:
611
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗