Madeline Couse - Publications, H-index & Citations

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Madeline Couse

The Hospital for Sick Children

11H-index

54Paper Count

520Citation Count

Published Papers 13

Publication Date

One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking

Human Mutation

IF3.7

2025-10-09

OAAI

Matthew Osmond; E. Magda Price; Orion J. Buske; Mackenzie Frew; Madeline Couse; Taila Hartley; Conor Klamann; Hannah G. B. H. Le; Jenny Xu; Delvin So; Anjali Jain; Kevin Lu; Kevin Mo; Hannah Wyllie; Erika Wall; Hannah G. Driver; Warren A. Cheung; Ana S. A. Cohen; Emily G. Farrow; Isabelle Thiffault; Care4Rare Canada Consortium; Andrei L. Turinsky; Tomi Pastinen; Michael Brudno; Kym M. Boycott

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FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2025-04-01

OAAI

Cuillerier, Alexanne; Del Gobbo, Giulia F.; Mackay, Layla; Wall, Erika; Couse, Madeline; Mcdonell, Laura M.; Cloutier, Mireille; Danzi, Matt C.; Warman-Chardon, Jodi; Bourque, Pierre R.; Suchowersky, Oksana; Mears, Alan; Seldenthuis, Luke; Mears, Wendy; Larrigan, Laura; White-Brown, Alexandre; Pfeffer, Gerald; Bulman, Dennis E.; Dyment, David; Boycott, Kym M.

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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants

PLOS GENETICS

IF3.7

2025-01-06

OAAI

Haque, Bushra; Cheerie, David; Pan, Amy; Curtis, Meredith; Nalpathamkalam, Thomas; Nguyen, Jimmy; Salhab, Celine; Thiruvahindrapuram, Bhooma; Zhang, Jade; Couse, Madeline; Hartley, Taila; Morrow, Michelle M.; Price, E. Magda; Walker, Susan; Malkin, David; Roth, Frederick P.; Costain, Gregory

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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

NATURE GENETICS

IF31.8

2024-06-27

PREAI

Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josee; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Celine; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.

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Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction

NEUROLOGY-GENETICS

IF3.7

2023-10-01

OAAI

Warman-Chardon, Jodi; Hartley, Taila; Marshall, Aren Elizabeth; McBride, Arran; Couse, Madeline; Macdonald, William; Mann, Mellissa R. W.; Bourque, Pierre R.; Breiner, Ari; Lochmuller, Hanns; Woulfe, John; Sampaio, Marcos Loreto; Melkus, Gerd; Brais, Bernard; Dyment, David A.; Boycott, Kym M.; Kernohan, Kristin

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Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus

JOURNAL OF RHEUMATOLOGY

IF3.4

2022-11-15

PREAI

Misztal, Melissa C.; Liao, Fangming; Couse, Madeline; Cao, Jingjing; Dominguez, Daniela; Lau, Lynette; Marshall, Christian R.; Naumenko, Sergey; Knight, Andrea M.; Levy, Deborah M.; Hiraki, Linda T.

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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-07-01

OAAI

Elliott, Alison M.; Adam, Shelin; du Souich, Christele; Lehman, Anna; Nelson, Tanya N.; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T.; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K.; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J.; Patel, Millan S.; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M.

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Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome

JOURNAL OF RHEUMATOLOGY

IF3.4

2022-06-01

PREAI

Lahiry, Piya; Naumenko, Sergey; Couse, Madeline; Liao, Fangming; Dominguez, Daniela; Knight, Andrea; Levy, Deborah M.; Misztal, Melissa; Ng, Lawrence W. K.; Hiraki, Linda T.

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Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery

HUMAN MUTATION

IF3.7

2022-03-01

PREAI

Driver, Hannah G.; Hartley, Taila; Price, E. Magda; Turinsky, Andrei L.; Buske, Orion J.; Osmond, Matthew; Ramani, Arun K.; Kirby, Emily; Kernohan, Kristin D.; Couse, Madeline; Elrick, Hillary; Lu, Kevin; Mashouri, Pouria; Mohan, Aarthi; So, Delvin; Klamann, Conor; Le, Hannah G. B. H.; Herscovich, Andrea; Marshall, Christian R.; Statia, Andrew; Knoppers, Bartha M.; Brudno, Michael; Boycott, Kym M.

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-08-01

PREAI

Haijes, Hanneke A.; de Sain-van der Velden, Monique G. M.; Prinsen, Hubertus C. M. T.; Willems, Anke P.; van der Ham, Maria; Gerrits, Johan; Couse, Madeline H.; Friedman, Jan M.; van Karnebeek, Clara D. M.; Selby, Kathryn A.; van Hasselt, Peter M.; Verhoeven-Duif, Nanda M.; Jans, Judith J. M.

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

GIGASCIENCE

IF3.9

2019-07-09

OAAI

Webster, Timothy H.; Couse, Madeline; Grande, BrunoM.; Karlins, Eric; Phung, Tanya N.; Richmond, Phillip A.; Whitford, Whitney; Wilson, Melissa A.

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Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

BMC GENOMICS

IF3.7

2017-05-24

OAAI

Zahir, Farah R.; Mwenifumbo, Jill C.; Chun, Hye-Jung E.; Lim, Emilia L.; Van Karnebeek, Clara D. M.; Couse, Madeline; Mungall, Karen L.; Lee, Leora; Makela, Nancy; Armstrong, Linlea; Boerkoel, Cornelius F.; Langlois, Sylvie L.; McGillivray, Barbara M.; Jones, Steven J. M.; Friedman, Jan M.; Marra, Marco A.

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An optical relay approach to very low cost hybrid polymer-complementary metal-oxide semiconductor electrophoresis instrumentation

JOURNAL OF CHROMATOGRAPHY A

IF4

2014-07-01

PREAI

Hall, Gordon H.; Sloan, David L.; Ma, Tianchi; Couse, Madeline H.; Martel, Stephane; Elliott, Duncan G.; Glerum, D. Moira; Backhouse, Christopher J.

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Research Directions