Publications by authors named "Kym Boycott"

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Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.
Alexanne Cuillerier, Andrea Goodman, Chloe Lawrence, Noémie Villeneuve-Cloutier, Christine M Armour, Kym M Boycott

Clin Genet· January 2026

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Response to Krutish et al.
Michael P Mackley, Julie Richer, Kym M Boycott

Genet Med· December 2025

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ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record.
Grace U Ediae, Alexandre White-Brown, Caitlin Chisholm, Ivan Terekhov, Jon Seymour, Kym M Boycott

Genet Med· November 2025

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Is next generation sequencing for the diagnosis of rare diseases worth its cost? A user-based approach to valuation.
Karen V MacDonald, Sebastian Heidenreich, Nicolas Krucien, Kym M Boycott, Francois P Bernier

Eur J Health Econ· November 2025

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variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.
Lola Er Lessard, Danielle K Bourque, Pierre J Bourque, Hanns Lochmüller, Joaquin Machado, Kym M Boycott

J Neuromuscul Dis· November 2025

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Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.
Rui Zhu, Lang Liu, Mehrdad A Estiar, Farnaz Asayesh, Jamil Ahmad, Kym M Boycott

Mov Disord· November 2025

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Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.
Robin Z Hayeems, Wendy J Ungar, Christian R Marshall, Meredith K Gillespie, Anna Szuto, Kym M Boycott

Genet Med· October 2025

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How does personal utility depend on clinical setting? Evidence from 3 cohorts.
Elise Poole, Stephanie Luca, Daniel Assamad, Bowen Xiao, Joyce Yan, Kym M Boycott

Genet Med Open· October 2025

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One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.
Matthew Osmond, E Magda Price, Orion J Buske, Mackenzie Frew, Madeline Couse, Kym M Boycott

Hum Mutat· October 2025

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A roadmap for navigating child health research data sharing across Canada and beyond - building on UCAN CAN-DU.
Brittany Gerber, Gillian R Currie, Alexander Mosoiu, Alexander Bernier, Francois P Bernier, Kym M Boycott

Pediatr Rheumatol Online J· September 2025

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Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.
Pablo Iruzubieta, David Pellerin, Catherine Ashton, Felipe Villa, Mathilde Renaud, Kym M Boycott

J Neurol· September 2025

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Mainstreaming of clinical genetic testing: A conceptual framework.
Michael P Mackley, Julie Richer, Andrea Guerin, Oana Caluseriu, Linlea Armstrong, Kym M Boycott

Genet Med· August 2025

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The evolution of health data ecosystems: An international survey.
Jordan P Lerner-Ellis, E Magda Price, Shazia Subhani, Tiffany Boughtwood, Marie-Jo Brion, Kym M Boycott

Am J Hum Genet· August 2025

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TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.
Kaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, Oana Caluseriu, Natalie Del Signore, Kym M Boycott

BMJ Open· August 2025

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A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.
Wendy J Ungar, Vercancy Wu, Christian R Marshall, Jackie Hwang, Robin Z Hayeems, Kym M Boycott

Genet Med· August 2025

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RICTOR variants are associated with neurodevelopmental disorders.
Raphael Carapito, Anne Molitor, Lisa Pavinato, Alaa Skeyni, Magalie Lambert, Kym M Boycott

Eur J Hum Genet· July 2025

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A Mosaic Hotspot PLCD1 Variant, Detectable in Blood-Derived DNA, Associated With Nevus Trichilemmocysticus.
Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J Eaton, Kym M Boycott

Am J Med Genet A· July 2025

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MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, Tobias Bartolomaeus, Maria Escolar, Kym M Boycott

Epilepsia· July 2025

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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Jamie C Stark, Neta Pipko, Yijing Liang, Anna Szuto, Chung Ting Tsoi, Kym M Boycott

Genome Med· July 2025

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FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.
Alexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Kym M Boycott

Ann Clin Transl Neurol· June 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Kym M Boycott

Nat Genet· June 2025

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Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?
Koen Degeling, Toni Tagimacruz, Karen V MacDonald, Trevor A Seeger, Katharine Fooks, Kym M Boycott

Appl Health Econ Health Policy· May 2025

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The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases.
Giulia F Del Gobbo, Kym M Boycott

Genome Res· April 2025

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The RDI-Lancet Commission on Rare Diseases: improving visibility to address health-care disparities for 400 million people.
Kym M Boycott, Roberto Giugliani,

Lancet· February 2025

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deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly.
Rebekah Rushforth, Hanan E Shamseldin, Nicole Costantino, Jes-Rite Michaels, Sarah L Sawyer, Kym M Boycott

medRxiv· January 2025

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