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Author/Creator Smith, Janine

1. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. (September 2018)

Authors:
Lee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins,...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 9(2018)
Page Start:
1061
Record Type:
Journal Article
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2. Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. Issue 21 (11th February 2022)

Authors:
Lee, Richard G; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Tim; Padman, Benjamin; Smith, Janine; Riley, Lisa G; Priyadarshi, Archana; Peng, Liuyu; Nuske, Madison R; Webster, Richard; Peacock, Ken; Roberts, Philip; Stark, Zornitza; Lemire, Gabrielle; Ito, Yoko A; Boycott, K...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 21(2022)
Page Start:
3597
Record Type:
Journal Article
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3. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Issue 1 (December 2016)

Authors:
Eggers, Stefanie; Sadedin, Simon; van den Bergen, Jocelyn; Robevska, Gorjana; Ohnesorg, Thomas; Hewitt, Jacqueline; Lambeth, Luke; Bouty, Aurore; Knarston, Ingrid; Tan, Tiong; Cameron, Fergus; Werther, George; Hutson, John; O'Connell, Michele; Grover, Sonia; Heloury, Yves; Zacharin, Margaret; Ber...
Journal:
Genome biology
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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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
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5. RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation. Issue 12 (10th October 2013)

Authors:
Revencu, Nicole; Boon, Laurence M.; Mendola, Antonella; Cordisco, Maria Rosa; Dubois, Josée; Clapuyt, Philippe; Hammer, Frank; Amor, David J.; Irvine, Alan D.; Baselga, Eulalia; Dompmartin, Anne; Syed, Samira; Martin‐Santiago, Ana; Ades, Lesley; Collins, Felicity; Smith, Janine; Sandaradura, Sara...
Journal:
Human mutation
Issue:
Volume 34:Issue 12(2013:Dec.)
Page Start:
1632
Record Type:
Journal Article
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