Concepedia

Madeline Couse

MC

Statistics

Publications

12

Citations

474

H-Index

11

Active since

2014

Affiliations

University of British Columbia(Current)

BC Children's Hospital

Hospital for Sick Children

University of Ottawa

Children's Hospital of Eastern Ontario

Madeline Couse is an author at University of British Columbia specializing in life sciences, genetics, and variant analysis.

ORCID

Publications per year

2014–2025

12

Publications

12

Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data

Timothy H. Webster, Madeline Couse, Bruno M. Grande et al. · GigaScience · 2019 · 102 citations · Full text

, , +16

KDM5A mutations identified in autism spectrum disorder using forward genetics

Lauretta El Hayek, İslam Oğuz Tuncay, Nadine Nijem et al. · eLife · 2020 · 63 citations · Full text

, , +16

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu et al. · Genome Medicine · 2021 · 53 citations · Full text

, , +17

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Hanneke A. Haijes, Monique G.M. de Sain–van der Velden, Hubertus C.M.T. Prinsen et al. · Molecular Genetics and Metabolism · 2019 · 52 citations

, , +9

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text

, , +17

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