Publications by authors named "Meredith Gillespie"

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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

Genet Med· October 2025

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Mainstreaming of clinical genetic testing: A conceptual framework.
Michael P Mackley, Julie Richer, Andrea Guerin, Oana Caluseriu, Linlea Armstrong, Meredith K Gillespie

Genet Med· 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

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, Meredith K Gillespie

Genet Med· August 2025

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Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Leanne de Kock, Alexanne Cuillerier, Meredith Gillespie, Madeline Couse, Taila Hartley

Am J Med Genet A· March 2024

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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Taila Hartley, Deborah Marshall, Meryl Acker, Katharine Fooks, Meredith K Gillespie

Genet Med· February 2024

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Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations.
Taila Hartley, Meredith K Gillespie, Ian D Graham, Robin Z Hayeems, Sheena Li

Genet Med· November 2023

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Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.
Wendy J Ungar, Robin Z Hayeems, Christian R Marshall, Meredith K Gillespie, Anna Szuto

Clin Ther· August 2023

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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Taila Hartley, Élisabeth Soubry, Meryl Acker, Matthew Osmond, Madeline Couse, Meredith K Gillespie

Clin Genet· March 2023

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The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Grace Uwaila Ediae, Gabrielle Lemire, Caitlin Chisholm, Taila Hartley, Alison Eaton, Meredith Gillespie

Am J Med Genet A· February 2023

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PhenomeCentral: 7 years of rare disease matchmaking.
Matthew Osmond, Taila Hartley, Brittney Johnstone, Sasha Andjic, Marta Girdea, Meredith Gillespie

Hum Mutat· June 2022

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Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
Mehrdad A Estiar, Noor Lail, David A Dyment, Parizad Varghaei, Taila Hartley, Meredith K Gillespie

Ann Neurol· May 2022

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Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Robin Z Hayeems, Christian R Marshall, Meredith K Gillespie, Anna Szuto, Caitlin Chisholm

CMAJ Open· May 2022

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The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.
Robin Z Hayeems, Christine Michaels-Igbokwe, Viji Venkataramanan, Taila Hartley, Meryl Acker, Meredith Gillespie

Genet Med· March 2022

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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Irit Hochberg, Leigh A M Demain, Julie Richer, Kyle Thompson, Jill E Urquhart, Meredith Gillespie

Am J Hum Genet· November 2021

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Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
Daniel I Weiman, Meredith K Gillespie, Taila Hartley, Matthew Osmond, Yoko Ito

Child Neurol Open· October 2021

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Healthy movement behaviours in children and youth during the COVID-19 pandemic: Exploring the role of the neighbourhood environment.
Raktim Mitra, Sarah A Moore, Meredith Gillespie, Guy Faulkner, Leigh M Vanderloo

Health Place· September 2020

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A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.
Meredith K Gillespie, Hugh J McMillan, Kristin D Kernohan, Izabella A Pena, Rebecca Meyer-Schuman

J Neuromuscul Dis· February 2020

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The value of diagnostic testing for parents of children with rare genetic diseases.
Deborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, Taila Hartley, Francois P Bernier, Meredith K Gillespie

Genet Med· December 2019

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Correction: The value of diagnostic testing for parents of children with rare genetic diseases.
Deborah A Marshall, Karen V MacDonald, Sebastian Heidenreich, Taila Hartley, Francois P Bernier, Meredith K Gillespie

Genet Med· November 2019

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Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.
Deborah A Marshall, Eric I Benchimol, Alex MacKenzie, Daniel Rodriguez Duque, Karen V MacDonald, Meredith Gillespie

Genet Med· May 2019

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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Raman Kumar, Alison Gardner, Claire C Homan, Evelyn Douglas, Heather Mefford, Meredith K Gillespie

Hum Mutat· August 2018

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Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
Meredith K Gillespie, Peter Humphreys, Hugh J McMillan, Kym M Boycott

J Child Neurol· April 2018

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Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.
Faheem Malam, Taila Hartley, Meredith K Gillespie, Christine M Armour, Erika Bariciak

Am J Med Genet A· July 2017

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Beyond drugs and alcohol: Including gambling in a high-risk behavioural framework.
Carmen Messerlian, Meredith Gillespie, Jeffrey L Derevensky

Paediatr Child Health· March 2007

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