Publications by authors named "Dawn Cordeiro"

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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.
Taila Hartley, Deborah Marshall, Meryl Acker, Katharine Fooks, Meredith K Gillespie, Dawn Cordeiro

Genet Med· February 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Dawn Cordeiro

J Clin Invest· January 2024

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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Dawn Cordeiro

Genet Med· December 2022

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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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Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
Grace Silver, Shalini Bahl, Dawn Cordeiro, Abhinav Thakral, Taryn Athey

Genes (Basel)· August 2021

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Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze, Saadet Mercimek-Andrews

Orphanet J Rare Dis· December 2020

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Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Gregory Costain, Dawn Cordeiro, Diana Matviychuk, Saadet Mercimek-Andrews

Neuroscience· October 2019

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DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.
Danielle Veenma, Dawn Cordeiro, Neal Sondheimer, Saadet Mercimek-Andrews

Eur J Hum Genet· December 2018

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Genetic landscape of pediatric movement disorders and management implications.
Dawn Cordeiro, Garrett Bullivant, Komudi Siriwardena, Andrea Evans, Jeff Kobayashi

Neurol Genet· October 2018

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Outcome of Patients With Inherited Neurotransmitter Disorders.
Dawn Cordeiro, Garrett Bullivant, Ronald D Cohn, Julian Raiman, Saadet Mercimek-Andrews

Can J Neurol Sci· September 2018

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, Dawn Cordeiro

Genet Med· April 2018

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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
Graeme A M Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek-Andrews

Am J Med Genet A· February 2018

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A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Rebecca Barmherzig, Garrett Bullivant, Dawn Cordeiro, David S Sinasac, Susan Blaser

Pediatr Neurol· September 2017

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Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Amal Al Teneiji, Theodora U J Bruun, Dawn Cordeiro, Jaina Patel, Michal Inbar-Feigenberg

Metab Brain Dis· April 2017

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Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Amal Al Teneiji, Theodora U J Bruun, Sarah Sidky, Dawn Cordeiro, Ronald D Cohn

Mol Genet Metab· March 2017

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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Marianna Madeo, Michelle Stewart, Yuyang Sun, Nadia Sahir, Sarah Wiethoff, Dawn Cordeiro

Am J Hum Genet· June 2016

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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Saadet Mercimek-Mahmutoglu, Jaina Patel, Dawn Cordeiro, Stacy Hewson, David Callen

Epilepsia· May 2015

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Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
Saadet Mercimek-Mahmutoglu, Dawn Cordeiro, Vivian Cruz, Keith Hyland, Eduard A Struys

Eur J Paediatr Neurol· November 2014

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