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1 . Academic Journal
P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study
저자
by
Nicole Si Yan Liang
;
Gregory Costain
;
Alissa D'Gama
;
Amy McTague
;
Katherine Howell
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101201- (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)
Full Text (ScienceDirect)
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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)
Full Text (ScienceDirect)
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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)
Full Text (ScienceDirect)
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7 . Academic Journal
P829: Comparative medical genetics to facilitate the interpretation of rare missense variation
저자
by
Bushra Haque
;
George Guirguis
;
Meredith Curtis
;
Hera Mohsin
;
Susan Walker
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101740- (2024)
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7 . Academic Journal
O47: Leveraging somatic cancer mutation data to predict the pathogenicity of germline missense variants
저자
by
Bushra Haque
;
Saba Birkadze
;
Amy Pan
;
Alice Xu
;
Meredith Curtis
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100700- (2023)
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7 . Academic Journal
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences
저자
by
Roozbeh Manshaei
;
Daniele Merico
;
Miriam S. Reuter
;
Worrawat Engchuan
;
Bahareh A. Mojarad
, et al.
소스
Frontiers in Genetics, Vol 11 (2020)
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Web of Science
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7 .
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
저자
by
Qiliang Ding
;
Cherith Somerville
;
Roozbeh Manshaei
;
Brett Trost
;
Miriam S. Reuter
, et al.
소스
Human Genetics
. 142:201-216
Open Access (OpenAIRE)
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7 .
Contemporary aetiologies of medical complexity in children: a cohort study
저자
by
Bushra Haque
;
Tayyaba Khan
;
Inna Ushcatz
;
Meredith Curtis
;
Amy Pan
, et al.
소스
Archives of Disease in Childhood
. 108:147-149
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7 .
Genome sequencing among children with medical complexity: What constitutes value from parents’ perspective?
저자
by
Gregory Costain
;
Susan Walker
;
Eyal Cohen
;
Robin Z. Hayeems
;
M. Stephen Meyn
, et al.
소스
Journal of Genetic Counseling, 31(2), 523-533. Human Sciences Press/Kluwer Academic
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