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1 . Academic Journal
O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium
저자
by
Giulia Del Gobbo
;
Madeline Couse
;
Christine Lambert
;
Siyuan Zhang
;
Harsharan Dhillon
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101474- (2024)
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7 . Academic Journal
P605: RNA sequencing as a second-line test for rare disease
저자
by
Aren Marshall
;
Giulia Del Gobbo
;
Yijing Liang
;
Madeline Couse
;
Kym Boycott
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101511- (2024)
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7 . Academic Journal
RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report
저자
by
Aren E. Marshall
;
Stella K. MacDonald
;
Yijing Liang
;
Madeline Couse
;
Care4Rare Canada Consortium
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
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7 . Academic Journal
P509: Resolution of variants of uncertain significance by RNA sequencing
저자
by
Aren Marshall
;
Giulia Del Gobbo
;
Yijing Liang
;
Madeline Couse
;
Kym Boycott
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100556- (2023)
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7 . Academic Journal
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
저자
by
Alison M. Elliott
;
Shelin Adam
;
Christèle du Souich
;
Anna Lehman
;
Tanya N. Nelson
, et al.
소스
HGG Advances, Vol 3, Iss 3, Pp 100108- (2022)
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7 . Academic Journal
KDM5A mutations identified in autism spectrum disorder using forward genetics
저자
by
Lauretta El Hayek
;
Islam Oguz Tuncay
;
Nadine Nijem
;
Jamie Russell
;
Sara Ludwig
, et al.
소스
eLife, Vol 9 (2020)
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7 . Academic Journal
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
저자
by
Farah R. Zahir
;
Jill C. Mwenifumbo
;
Hye-Jung E. Chun
;
Emilia L. Lim
;
Clara D. M. Van Karnebeek
, et al.
소스
BMC Genomics, Vol 18, Iss 1, Pp 1-16 (2017)
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7 .
RNA
sequencing to support intronic variant interpretation: A case report of
TRAPPC12
‐related disorder
저자
by
Priya T. Bhola
;
Aren E. Marshall
;
Yijing Liang
;
Madeline Couse
;
Xueqi Wang
, et al.
소스
American Journal of Medical Genetics Part A
. 191:1664-1668
Open Access (OpenAIRE)
Web of Science
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7 .
Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus
저자
by
Melissa C. Misztal
;
Fangming Liao
;
Madeline Couse
;
Jingjing Cao
;
Daniela Dominguez
, et al.
소스
The Journal of Rheumatology
. 50:671-675
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7 .
A common flanking variant is associated with enhanced meiotic stability of theFGF14-SCA27B locus
저자
by
David Pellerin
;
Giulia Del Gobbo
;
Madeline Couse
;
Egor Dolzhenko
;
Marie-Josée Dicaire
, et al.
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