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1 . Academic Journal
P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing
저자
by
Lucie Dupuis
;
Anna Szuto
;
Christian Marshall
;
Lianna Kyriakopoulou
;
Roberto Mendoza-Londono
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101282- (2024)
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7 . Academic Journal
O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases
저자
by
Wendy Ungar
;
Vercancy Wu
;
Christian Marshall
;
Jackie Hwang
;
Robin Hayeems
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101365- (2024)
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7 . Academic Journal
P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service
저자
by
Meredith Gillespie
;
Robin Hayeems
;
Christian Marshall
;
Anna Szuto
;
Caitlin Chisholm
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101439- (2024)
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7 . Academic Journal
P597: All for One Clinical Genomics Network: Linking Canadian diagnostic laboratories to share genome-wide sequencing data to support rare disease diagnosis
저자
by
E. Magda Price
;
Meredith Gillespie
;
Caitlin Chisholm
;
Ruben Attali
;
Talia Silver
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101503- (2024)
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7 . Academic Journal
P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape
저자
by
Meredith Gillespie
;
Robin Hayeems
;
Christian Marshall
;
Anna Szuto
;
Caitlin Chisholm
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101522- (2024)
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7 . Academic Journal
P642: Development and deployment of clinical genome sequencing using a cloud-based platform
저자
by
Lynette Lau
;
Edward Higginbotham
;
Wilson Sung
;
Venuja Sriretnakumar
;
Meredith Curtis
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101548- (2024)
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7 . Academic Journal
P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing
저자
by
Katharine Fooks
;
Lydia Vermeer
;
Elise Poole
;
Stephanie Luca
;
Riyana Babul-Hirji
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101780- (2024)
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7 . Academic Journal
P873: 'If you look for a problem, you’ll find one': A qualitative study to understand why parents/adult patients decline secondary findings
저자
by
Abigail Hansen
;
Stephanie Luca
;
Olivia Moran
;
Riyana Babul-Hirji
;
Joyce Yan
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101787- (2024)
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7 .
Rapid Genetic Testing in Pediatric and Neonatal Critical Care: A Scoping Review of Emerging Ethical Issues
저자
by
Lauren Chad
;
James Anderson
;
Diana Cagliero
;
Robin Z. Hayeems
;
Linh G. Ly
, et al.
소스
Hospital pediatrics
. 12(10)
Scopus
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7 .
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
저자
by
Heidi L Rehm
;
Joseph T Alaimo
;
Swaroop Aradhya
;
Pinar Bayrak-Toydemir
;
Hunter Best
, et al.
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