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1 . Academic Journal
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
저자
by
Marshall, Aren E.
;
Lemire, Gabrielle
;
Liang, Yijing
;
Davila, Jorge
;
Couse, Madeline
, et al.
소스
American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-5, 5p
Web of Science
Scopus
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7 . Academic Journal
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.
저자
by
de Kock, Leanne
;
Cuillerier, Alexanne
;
Gillespie, Meredith
;
Couse, Madeline
;
Hartley, Taila
, et al.
소스
American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-10, 10p
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
저자
by
Del Gobbo, Giulia F.
;
Wang, Xueqi
;
Couse, Madeline
;
Mackay, Layla
;
Goldsmith, Claire
, et al.
소스
American Journal of Medical Genetics. Part A; May2024, Vol. 194 Issue 5, p1-8, 8p
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report.
저자
by
Marshall, Aren E.
;
MacDonald, Stella K.
;
Liang, Yijing
;
Couse, Madeline
;
Boycott, Kym M.
, et al.
소스
Molecular Genetics & Genomic Medicine
. Oct2023, Vol. 11 Issue 10, p1-9. 9p.
Open Access (Wiley)
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7 . Academic Journal
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
저자
by
Hartley, Taila
;
Soubry, Élisabeth
;
Acker, Meryl
;
Osmond, Matthew
;
Couse, Madeline
, et al.
소스
Clinical Genetics
. Mar2023, Vol. 103 Issue 3, p288-300. 13p.
Web of Science
Scopus
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7 . Academic Journal
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12‐related disorder.
저자
by
Bhola, Priya T.
;
Marshall, Aren E.
;
Liang, Yijing
;
Couse, Madeline
;
Wang, Xueqi
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2023, Vol. 191 Issue 6, p1664-1668, 5p
Web of Science
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7 . Academic Journal
Genome-wide Sequencing Identified Rare Genetic Variants for Childhood-onset Monogenic Lupus.
저자
by
Misztal, Melissa C.
;
Fangming Liao
;
Couse, Madeline
;
Jingjing Cao
;
Dominguez, Daniela
, et al.
소스
Journal of Rheumatology; May2023, Vol. 50 Issue 5, p671-675, 5p
Web of Science
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7 . Academic Journal
Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome.
저자
by
Lahiry, Piya
;
Naumenko, Sergey
;
Couse, Madeline
;
Liao, Fangming
;
Dominguez, Daniela
, et al.
소스
Journal of Rheumatology; Oct2022, Vol. 40 Issue 10, p1146-1151, 6p
Web of Science
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7 . Periodical
Integrated omics analyses clarifies ATRXcopy number variant of uncertain significance
저자
by
Marshall, Aren E.
;
Liang, Yijing
;
Couse, Madeline
;
McConkey, Haley
;
Sadikovic, Bekim
, et al.
소스
Journal of Human Genetics; 20230101, Issue: Preprints p1-5, 5p
Web of Science
Scopus
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7 . Academic Journal
Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery.
저자
by
Driver, Hannah G.
;
Hartley, Taila
;
Price, E. Magda
;
Turinsky, Andrei L.
;
Buske, Orion J.
, et al.
소스
Human Mutation; Jun2022, Vol. 43 Issue 6, p800-811, 12p
Web of Science
Scopus
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