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Couse, Madeline
33  results:
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1

A common flanking variant is associated with enhanced stabi..:

Pellerin, David ; Del Gobbo, Giulia F. ; Couse, Madeline...
Nature Genetics.  56 (2024)  7 - p. 1366-1370 , 2024
Link: https://doi.org/10.1038/..
 
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2

P605: RNA sequencing as a second-line test for rare disease:

Marshall, Aren ; Del Gobbo, Giulia ; Liang, Yijing...
Genetics in Medicine Open.  2 (2024)  - p. 101511 , 2024
Link: https://doi.org/10.1016/..
 
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3

O36: Long-read genome sequencing in unsolved rare genetic d..:

Del Gobbo, Giulia ; Couse, Madeline ; Lambert, Christine...
Genetics in Medicine Open.  2 (2024)  - p. 101474 , 2024
Link: https://doi.org/10.1016/..
 
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4

RNA sequencing resolves novel DYNC2H1 variants causing shor..:

Marshall, Aren E. ; MacDonald, Stella K. ; Liang, Yijing...
Molecular Genetics & Genomic Medicine.  11 (2023)  10 - p. , 2023
Link: https://doi.org/10.1002/..
 
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5

RNA sequencing reveals deep intronic CEP120 variant: A repo..:

Marshall, Aren E. ; Lemire, Gabrielle ; Liang, Yijing...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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6

Molecular characterization of 13 patients with PIK3CA‐relat..:

de Kock, Leanne ; Cuillerier, Alexanne ; Gillespie, Meredith...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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7

P509: Resolution of variants of uncertain significance by R..:

Marshall, Aren ; Del Gobbo, Giulia ; Liang, Yijing...
Genetics in Medicine Open.  1 (2023)  1 - p. 100556 , 2023
Link: https://doi.org/10.1016/..
 
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8

Long‐read genome sequencing reveals a novel intronic retroe..:

Del Gobbo, Giulia F. ; Wang, Xueqi ; Couse, Madeline...
American Journal of Medical Genetics Part A.  194 (2023)  5 - p. , 2023
Link: https://doi.org/10.1002/..
 
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9

Integrated omics analyses clarifies ATRX copy number varian..:

Marshall, Aren E. ; Liang, Yijing ; Couse, Madeline...
Journal of Human Genetics.  69 (2023)  2 - p. 101-105 , 2023
Link: https://doi.org/10.1038/..
 
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10

RNA sequencing to support intronic variant interpretation: ..:

Bhola, Priya T. ; Marshall, Aren E. ; Liang, Yijing...
American Journal of Medical Genetics Part A.  191 (2023)  6 - p. 1664-1668 , 2023
Link: https://doi.org/10.1002/..
 
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11

Genome-wide sequencing and the clinical diagnosis of geneti..:

Elliott, Alison M. ; Adam, Shelin ; du Souich, Christèle...
Human Genetics and Genomics Advances.  3 (2022)  3 - p. 100108 , 2022
Link: https://doi.org/10.1016/..
 
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12

Bridging clinical care and research in Ontario, Canada: Max..:

Hartley, Taila ; Soubry, Élisabeth ; Acker, Meryl...
Clinical Genetics.  103 (2022)  3 - p. 288-300 , 2022
Link: https://doi.org/10.1111/..
 
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13

Correction to: Genome-wide sequencing as a first-tier scree..:

Rajan-Babu, Indhu-Shree ; Peng, Junran J. ; Chiu, Readman...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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14

Genome-wide sequencing as a first-tier screening test for s..:

Rajan-Babu, Indhu-Shree ; Peng, Junran J. ; Chiu, Readman...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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15

KDM5A mutations identified in autism spectrum disorder usin..:

El Hayek, Lauretta ; Tuncay, Islam Oguz ; Nijem, Nadine...
eLife.  9 (2020)  - p. , 2020
Link: https://doi.org/10.7554/..
 
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