Danielle K. Bourque

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 23 publications

Expanding the Phenotype of TUFM -Related Combined Oxidative Phosphorylation Deficiency 4.

Expanding the Phenotype of TUFM -Related Combined Oxidative Phosphorylation Deficiency 4.

Journal: American journal of medical genetics. Part A

Published: February 04, 2026

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Journal: Journal of neuromuscular diseases

Published: November 12, 2025

Optimization of environmental DNA-based methods: a case study for detecting brook trout (Salvelinus fontinalis).

Optimization of environmental DNA-based methods: a case study for detecting brook trout (Salvelinus fontinalis).

Journal: PeerJ

Published: April 17, 2025

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.

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.

Journal: Clinical genetics

Published: March 12, 2025

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

Journal: The Journal of clinical investigation

Published: December 17, 2024

Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.

Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.

Journal: Clinical toxicology (Philadelphia, Pa.)

Published: September 27, 2024

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.

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.

Journal: American journal of medical genetics. Part A

Published: March 06, 2024

The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.

The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.

Journal: American journal of medical genetics. Part A

Published: January 06, 2023

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Journal: Clinical genetics

Published: September 25, 2022

A novel splice site CUL3 variant in a patient with neurodevelopmental delay.

A novel splice site CUL3 variant in a patient with neurodevelopmental delay.

Journal: Brain & development

Published: September 23, 2022

Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.

Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: January 12, 2021

Gastroschisis in Ontario, Canada: 2012-2018.

Gastroschisis in Ontario, Canada: 2012-2018.

Journal: Birth defects research

Published: November 05, 2020

Showing 1-12 of 23

Last Updated: 09/26/2026