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Author/Creator Pinner, Jason

1. A deep intronic SMARCB1 variant associated with schwannomatosis. Issue 2 (9th September 2019)

Authors:
Smith, Miriam J.; Bowers, Naomi L.; Banks, Catherine; Coates‐Brown, Rosanna; Morris, Katrina A.; Ewans, Lisa; Wilson, Meredith; Pinner, Jason; Bhaskar, Sanjeev S.; Cammarata‐Scalisi, Francisco; Wallace, Andrew J.; Evans, Daffyd Gareth R.
Journal:
Clinical genetics
Issue:
Volume 97:Issue 2(2020)
Page Start:
376
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Issue 2 (3rd December 2019)

Authors:
Bryen, Samantha J.; Ewans, Lisa J.; Pinner, Jason; MacLennan, Suzanna C.; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R.; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M.; Hu, Ying; Grosmann, Carla; Malicki, Denise M.; Doyle...
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
403
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Issue 11 (November 2020)

Authors:
Lunke, Sebastian; Eggers, Stefanie; Wilson, Meredith; Patel, Chirag; Barnett, Christopher P.; Pinner, Jason; Sandaradura, Sarah A.; Buckley, Michael F.; Krzesinski, Emma I.; de Silva, Michelle G.; Brett, Gemma R.; Boggs, Kirsten; Mowat, David; Kirk, Edwin P.; Adès, Lesley C.; Akesson, Lauren S.; ...
Journal:
Obstetrical & gynecological survey
Issue:
Volume 75:Issue 11(2020)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗