Roberto Londono-Mendoza
Toronto, ON, Canada
Last Updated: 09/26/2026
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Found 93 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
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.
Journal: European journal of human genetics : EJHG
Published: November 15, 2025
Clinical utility of exome sequencing: Post-exome testing decision changes in the management of children with suspected rare genetic disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 30, 2025
Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic Disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 30, 2025
FTH1-Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia.
Journal: Movement disorders clinical practice
Published: October 23, 2025
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.
Journal: BMJ open
Published: August 10, 2025
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing.
Journal: European journal of human genetics : EJHG
Published: August 06, 2025
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.
Journal: Journal of genetic counseling
Published: July 11, 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
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Journal: Genome medicine
Published: December 21, 2024
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
Last Updated: 09/26/2026