Dimitri J. Stavropoulos
Toronto, ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 98 publications
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study.
Journal: BMJ open
Published: March 27, 2026
Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders.
Journal: Molecular psychiatry
Published: August 18, 2025
A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 24, 2025
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 10, 2025
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Journal: Nature communications
Published: December 18, 2024
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Journal: NPJ genomic medicine
Published: December 06, 2024
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.
Journal: The Laryngoscope
Published: July 20, 2023
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Journal: Human molecular genetics
Published: March 09, 2023
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
Journal: Journal of medical genetics
Published: July 21, 2022
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Journal: CMAJ open
Published: May 24, 2022
Developmental implications of genetic testing for physical indications.
Journal: European journal of human genetics : EJHG
Published: May 09, 2022
Last Updated: 09/26/2026