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Author/Creator Ray, Peter

2. Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. Issue 9 (1st July 2015)

Authors:
Ghemlas, Ibrahim; Li, Hongbing; Zlateska, Bozana; Klaassen, Robert; Fernandez, Conrad V; Yanofsky, Rochelle A; Wu, John; Pastore, Yves; Silva, Mariana; Lipton, Jeff H; Brossard, Josee; Michon, Bruno; Abish, Sharon; Steele, MacGregor; Sinha, Roona; Belletrutti, Mark; Breakey, Vicky R; Jardine, Law...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 9(2015)
Page Start:
575
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. (December 2015)

Authors:
Marshall, Christian; Farrell, Sandra; Cushing, Donna; Paton, Tara; Stockley, Tracy; Stavropoulos, Dimitri; Ray, Peter; Szego, Michael; Lau, Lynette; Pereira, Sergio; Cohn, Ronald; Wintle, Richard; Abuzenadah, Adel; Abu-Elmagd, Muhammad; Scherer, Stephen
Journal:
BMC genomics
Issue:
Volume 16:Number 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗