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Author/Creator Ying, Kevin

1. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. (December 2018)

Authors:
Ewans, Lisa; Schofield, Deborah; Shrestha, Rupendra; Zhu, Ying; Gayevskiy, Velimir; Ying, Kevin; Walsh, Corrina; Lee, Eric; Kirk, Edwin; Colley, Alison; Ellaway, Carolyn; Turner, Anne; Mowat, David; Worgan, Lisa; Freckmann, Mary-Louise; Lipke, Michelle; Sachdev, Rani; Miller, David; Field, Michae...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1564
Record Type:
Journal Article
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2. Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. Issue 9 (25th May 2019)

Authors:
Ewans, Lisa Jean; Colley, Alison; Gaston-Massuet, Carles; Gualtieri, Angelica; Cowley, Mark J; McCabe, Mark James; Anand, Deepti; Lachke, Salil A; Scietti, Luigi; Forneris, Federico; Zhu, Ying; Ying, Kevin; Walsh, Corrina; Kirk, Edwin P; Miller, David; Giunta, Cecilia; Sillence, David; Dinger, Ma...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 9(2019)
Page Start:
629
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. Issue 2 (4th January 2018)

Authors:
Palmer, Elizabeth E.; Schofield, Deborah; Shrestha, Rupendra; Kandula, Tejaswi; Macintosh, Rebecca; Lawson, John A.; Andrews, Ian; Sampaio, Hugo; Johnson, Alexandra M.; Farrar, Michelle A.; Cardamone, Michael; Mowat, David; Elakis, George; Lo, William; Zhu, Ying; Ying, Kevin; Morris, Paula; Tao, ...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 6:Issue 2(2018)
Page Start:
186
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗