Publications by authors named "Danielle Bourque"

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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, Danielle K Bourque

Clin Genet· January 2026

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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

J Neuromuscul Dis· November 2025

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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Katrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, Nathan L Absalom, Han C Chua, Danielle K Bourque

J Clin Invest· November 2025

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The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.
Julianne K Postma, Mary-Ann Harrison, Stephen Kutcher, Richard J Webster, Mireille Cloutier, Danielle K Bourque

Am J Med Genet A· November 2024

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Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.
Marc Ghannoum, Paula J Waters, Knut Erik Hovda, Gabrielle Choquette, Katja Benedikte Prestø Elgstøen, Danielle K Bourque

Clin Toxicol (Phila)· November 2024

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The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.
Lauren Strasser, Asif Doja, Jorge Davila, Pranesh Chakraborty, Danielle K Bourque

Am J Med Genet A· December 2023

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A novel splice site CUL3 variant in a patient with neurodevelopmental delay.
Krista M Vincent, Danielle K Bourque

Brain Dev· April 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, Danielle K Bourque

Clin Genet· March 2023

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Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.
Danielle K Bourque, Dawn Cordeiro, Graeme A M Nimmo, Jeff Kobayashi, Saadet Mercimek-Andrews

Can J Neurol Sci· November 2021

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Gastroschisis in Ontario, Canada: 2012-2018.
Danielle K Bourque, Lynn Meng, Shelley Dougan, Franco Momoli, Catherine Riddell

Birth Defects Res· August 2021

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Outcomes of patients with cobalamin C deficiency: A single center experience.
Danielle K Bourque, Lizbeth E Mellin-Sanchez, Garrett Bullivant, Vivian Cruz, Anette Feigenbaum

JIMD Rep· January 2021

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Dimethyldimethyl Hydantoin: An Alternative Fluid for Morphological and Genetic Preservation.
Danielle A Bourque, Kevin C Morey, Douglas L Bradley, Brooks Fost, Jennifer M Daley

Biopreserv Biobank· August 2020

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Rapid cooling via dry ice preserves the genetic and morphological integrity of fish embryos.
Brooks Fost, Kevin Morey, Bryan Ferguson, Danielle Bourque, Amanda Naaum

J Fish Biol· March 2020

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Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
Erfan Aref-Eshghi, Danielle K Bourque, Jennifer Kerkhof, Deanna Alexis Carere, Peter Ainsworth

Hum Mutat· October 2019

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Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.
Danielle K Bourque, Inara Chacon Fonseca, Andrea Staines, Ronni Teitelbaum, Michelle M Axford

Am J Med Genet A· July 2019

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Survey of mislabelling across finfish supply chain reveals mislabelling both outside and within Canada.
Hanan R Shehata, Danielle Bourque, Dirk Steinke, Shu Chen, Robert Hanner

Food Res Int· July 2019

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Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
Danielle K Bourque, Mireille Cloutier, Kristin D Kernohan, Eric Bareke, David Grynspan

Am J Med Genet A· May 2019

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Periodic breathing in patients with NALCN mutations.
Danielle K Bourque, David A Dyment, Ian MacLusky, Kristin D Kernohan,

J Hum Genet· October 2018

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A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.
Danielle K Bourque, Taila Hartley, Sarah M Nikkel, Daniela Pohl, Martine Tétreault

Eur J Med Genet· February 2018

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Whole Genome Amplification Provides Suitable Control DNA for Use in DNA Barcoding Applications.
Danielle A Bourque, Amanda M Naaum, Dan L Distel, Robert H Hanner

Biopreserv Biobank· June 2017

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Characterization of the vaginal microbiota of healthy Canadian women through the menstrual cycle.
Bonnie Chaban, Matthew G Links, Teenus Paramel Jayaprakash, Emily C Wagner, Danielle K Bourque

Microbiome· July 2014

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