Dawn Cordeiro

Toronto, ON, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

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.

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.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 21, 2023

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Journal: The Journal of clinical investigation

Published: April 06, 2023

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 07, 2022

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.

Journal: Genes

Published: May 08, 2021

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

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.

Journal: Orphanet journal of rare diseases

Published: August 17, 2020

Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.

Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.

Journal: Neuroscience

Published: April 09, 2019

Outcome of Patients With Inherited Neurotransmitter Disorders.

Outcome of Patients With Inherited Neurotransmitter Disorders.

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

Published: August 16, 2018

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.

Journal: European journal of human genetics : EJHG

Published: March 20, 2018

Genetic landscape of pediatric movement disorders and management implications.

Genetic landscape of pediatric movement disorders and management implications.

Journal: Neurology. Genetics

Published: February 10, 2018

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.

Journal: American journal of medical genetics. Part A

Published: July 17, 2017

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 18, 2017

Showing 1-12 of 18

Last Updated: 09/26/2026