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K

Kym M. Boycott

Children's Hospital of Eastern Ontario

77H-index
439Paper Count
2.1WCitation Count
Published Papers 183
Publication Date
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Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants
errClinical Genetics
IF2.3
err2026-06-23
err0
errOAAI
errEvan Burchfiel; Xiaonan Zhao; Nichole M. Owen; Tia Gordon; Mahshid S. Azamian; Eric C. Kao; Fan Xia; Xi Luo; Jill A. Rosenfeld; Seema R. Lalani; Allison P. Ortega; Steven B. Bleyl; Florence Petit; Sulekha Rajagopolan; Bénédicte Demeer; Meredith K. Gillespie; Lijia Huang; Matthew Osmond; Kym M. Boycott; Kyra E. Stuurman; Marjon A. van Slegtenhorst; Haley Soller; Céline Jost; Aurore Garde; Hana Safraou; Laurence Faivre; Victor Faundes; Daryl A. Scott
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Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic Disease
errGenetics in Medicine
IF6.2
err2026-06-11
err0
errOAAI
errToni Tagimacruz; Trevor Adam Seeger; Koen Degeling; Katharine Fooks; Viji Venkataramanan; Francois P. Bernier; Kym M. Boycott; Roberto Mendoza-Londono; Taila Hartley; Robin Hayeems; Deborah A. Marshall
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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
errGenome Medicine
IF11.2
err2026-03-24
err0
errOAAI
errJamie C. Stark; Neta Pipko; Yijing Liang; Anna Szuto; Chung Ting Tsoi; Megan A. Dickson; Kyoko E. Yuki; Huayun Hou; Sydney Scholten; Kenzie Pulsifer; Meryl Acker; Meredith Laver; Harsha Murthy; Olivia M. Moran; Emily Bonnell; Nicole Liang; Jashanpreet Sidhu; Lucie Dupuis; Mohammad M. Ghahramani Seno; Marisa Chard; Rebekah K. Jobling; Jessie Cameron; Rose Chami; Michal Inbar-Feigenberg; Michael D. Wilson; David A. Chitayat; Kym M. Boycott; Lianna Kyriakopoulou; Roberto Mendoza-Londono; Christian R. Marshall; James J. Dowling; Gregory Costain; Ashish R. Deshwar
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errSave
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort
errGenetics in Medicine
IF6.2
err2026-01-10
err0
errOAAI
errSalma Shickh; Katharine Fooks; Viji Venkataramanan; Meryl Acker; Karen V. MacDonald; Trevor A. Seeger; Meredith Gillespie; Taila Hartley; Kym M. Boycott; Francois Bernier; Deborah A. Marshall; Robin Z. Hayeems
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<i>MT-ATP6</i> variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review
errJournal of Neuromuscular Diseases
IF3.4
err2025-11-12
err0
errOAAI
errLola ER Lessard; Danielle K Bourque; Pierre J Bourque; Hanns Lochmüller; Joaquin Machado; Giulia F Del Gobbo; Aren E Marshall; Ian C Smith; Kym M Boycott; Jodi Warman-Chardon; Ari Breiner
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errSave
Is next generation sequencing for the diagnosis of rare diseases worth its cost? A user-based approach to valuation
errThe European Journal of Health Economics
IF0
err2025-11-12
err0
PREAI
errKaren V. MacDonald; Sebastian Heidenreich; Nicolas Krucien; Kym M. Boycott; Francois P. Bernier; Mandy Ryan; Deborah A. Marshall
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errSave
Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
errMOVEMENT DISORDERS
IF7.6
err2025-11-01
err0
errOAAI
errZhu, Rui; Liu, Lang; Estiar, Mehrdad A.; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Yoon, Grace; Tarnopolsky, Mark; Boycott, Kym M.; Dupre, Nicolas; Dion, Patrick A.; Suchowersky, Oksana; Jordanova, Albena; Lee, Yi-Chung; Stevanin, Giovanni; Zuchner, Stephan; Rouleau, Guy A.; Gan-Or, Ziv
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errSave
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
errGenetics in Medicine
IF6.2
err2025-10-10
err0
PREAI
errRobin Z. Hayeems; Wendy J. Ungar; Christian R. Marshall; Meredith K. Gillespie; Anna Szuto; Lijia Huang; Viji Venkataramanan; Bowen Xiao; Caitlin Chisholm; D.James Stavropoulos; Mélanie Beaulieu Bergeron; Whiwon Lee; Gregory Costain; Rebekah Jobling; Sarah Sawyer; E.Magda Price; Lynette Lau; Roberto Mendoza; Martin J. Somerville; Kym M. Boycott
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errSave
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking
errHuman Mutation
IF3.7
err2025-10-09
err0
errOAAI
errMatthew 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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A roadmap for navigating child health research data sharing across Canada and beyond – building on UCAN CAN-DU
errPediatric Rheumatology
IF2.3
err2025-10-02
err0
errOAAI
errBrittany Gerber; Gillian R. Currie; Alexander Mosoiu; Alexander Bernier; Francois P. Bernier; Kym M. Boycott; Guillermo Fiebelkorn; Kristien Hens; Bartha M. Knoppers; Claire LeBlanc; Stephen W. Scherer; David Shaw; Chris Viney; Carl Virtanen; Susanne M. Benseler; Rae S. M. Yeung; Deborah A. Marshall
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errSave
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort
errJOURNAL OF NEUROLOGY
IF4.6
err2025-09-20
err0
errOAAI
errIruzubieta, Pablo; Pellerin, David; Ashton, Catherine; Villa, Felipe; Renaud, Mathilde; Dicaire, Marie-Josee; Danzi, Matt C.; Aldecoa, Mayra; Mathieu, Jean; Massie, Rami; Chalk, Colin H.; Lafontaine, Anne-Louise; Evoy, Francois; Rioux, Marie-France; Brisson, Jean-Denis; Boycott, Kym M.; Houlden, Henry; Synofzik, Matthis; La Piana, Roberta; Zuchner, Stephan; Duquette, Antoine; Brais, Bernard
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errSave
ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record
errGenetics in Medicine
IF6.2
err2025-08-23
err0
PREAI
errGrace U. Ediae; Alexandre White-Brown; Caitlin Chisholm; Ivan Terekhov; Jon Seymour; Jeff Guo; Nicholas Mitsakakis; Sarah L. Sawyer; Kym M. Boycott
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errSave
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2025-04-01
err0
errOAAI
errCuillerier, 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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errSave
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity
errGENETICS IN MEDICINE
IF6.2
err2025-01-01
err0
PREAI
errHayeems, Robin Z.; Luca, Stephanie; Xiao, Bowen; Boswell-Patterson, Christie; Venegas, Carolina Lavin; Semaan, Clarissa R. Abi; Kolar, Tessa; Myles-Reid, Diane; Chad, Lauren; Dyment, David; Boycott, Kym M.; Lazier, Joanna; Ungar, Wendy J.; Armour, Christine M.
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errSave
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
errGENETICS IN MEDICINE
IF6.2
err2025-01-01
err0
errOAAI
errvan der Sluijs, Pleuntje J.; Moutton, Sebastien; Dingemans, Alexander J. M.; Weis, Denisa; Levy, Michael A.; Boycott, Kym M.; Arberas, Claudia; Baldassarri, Margherita; Beneteau, Claire; Brusco, Alfredo; Coutton, Charles; Dabir, Tabib; Dentici, Maria L.; Devriendt, Koenraad; Faivre, Laurence; Haelst, Mieke M. van; Jizi, Khadije; Kempers, Marlies J.; Kerkhof, Jennifer; Kharbanda, Mira; Lachlan, Katherine; Marle, Nathalie; Mcconkey, Haley; Mencarelli, Maria A.; Mowat, David.; Niceta, Marcello; Nicolas, Claire; Novelli, Antonio; Orlando, Valeria; Pichon, Olivier; Rankin, Julia; Relator, Raissa.; Ropers, Fabienne G.; Rosenfeld, Jill A.; Sachdev, Rani; Sandaradura, Sarah A.; Shukarova-Angelovska, Elena; Steenbeek, Duco; Tartaglia, Marco; Tedder, Matthew A.; Trajkova, Slavica; Winer, Norbert; Woods, Jeremy; de Vries, Bert B. A.; Sadikovic, Bekim; Alders, Marielle; Santen, Gijs W. E.
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errSave
RICTOR variants are associated with neurodevelopmental disorders
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-12-30
err0
PREAI
errCarapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angelique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W. T.; Elserafy, Noha; Blair, Edward M.; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J.; Pfundt, Rolph; Boycott, Kym M.; Bruel, Ange-Line; Mau-Them, Frederic Tran; Moutton, Sebastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B. A.; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak
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Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?
errAPPLIED HEALTH ECONOMICS AND HEALTH POLICY
IF3.3
err2024-12-30
err0
PREAI
errDegeling, Koen; Tagimacruz, Toni; MacDonald, Karen, V; Seeger, Trevor A.; Fooks, Katharine; Venkataramanan, Viji; Boycott, Kym M.; Bernier, Francois P.; Mendoza-Londono, Roberto; Hartley, Taila; Hayeems, Robin Z.; Marshall, Deborah A.
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errSave
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-08-01
err1
PREAI
errHaghshenas, Sadegheh; Karimi, Karim; Stevenson, Roger E.; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Lauzon-Young, Carolyn; Balci, Tugce B.; White-Brown, Alexandre M.; Carter, Melissa T.; Richer, Julie; Armour, Christine M.; Sawyer, Sarah L.; Bhola, Priya T.; Tedder, Matthew L.; Skinner, Cindy D.; van Rooij, Iris A. L. M.; van de Putte, Romy; de Blaauw, Ivo; Koeck, Rebekka M.; Hoischen, Alexander; Brunner, Han; Esteki, Masoud Zamani; Pelet, Anna; Lyonnet, Stanislas; Amiel, Jeanne; Boycott, Kym M.; Sadikovic, Bekim
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errSave
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
errNATURE GENETICS
IF31.8
err2024-06-27
err2
PREAI
errPellerin, 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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Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia (vol 14, 7054, 2023)
errNATURE COMMUNICATIONS
IF15.7
err2024-04-30
err1
errOAAI
errGourgas, Ophelie; Lemire, Gabrielle; Eaton, Alison J.; Alshahrani, Sultanah; Duker, Angela L.; Li, Jingjing; Carroll, Ricki S.; Mackenzie, Stuart; Nikkel, Sarah M.; Bober, Michael B.; Boycott, Kym M.; Murshed, Monzur
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Research Directions

No research directions
Co-authors
Cooperation Journals
A
Alan C. Evans
H-index: 191 · Papers: 1.2K
M
Marco A. Marra
H-index: 190 · Papers: 1.3K
S
Steven J.M. Jones
H-index: 189 · Papers: 1.3K
H
Håkon Håkonarson
H-index: 177 · Papers: 1.5K
L
L. Aravind
H-index: 140 · Papers: 499
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