Dawn Cordeiro

发表

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

R. Weksberg, S. Weiss, M. Moharir, 2015, Journal of the Neurological Sciences.

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

Daniele Merico, Raveen Basran, Christian R Marshall, 2017, Genetics in Medicine.

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.

D. Sinasac, S. Blaser, D. Cordeiro, 2017, Pediatric neurology.

NKX6-2 Disease in Two Unrelated Patients with Early Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy

D. Cordeiro, A. Shuen, S. Shurrab, 2023, Brain Disorders.

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

N. Sondheimer, D. Cordeiro, S. Mercimek-Andrews, 2018, European Journal of Human Genetics.

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.

E. Struys, L. Kyriakopoulou, D. Cordeiro, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

R. Cohn, M. Moharir, R. Mendoza-Londono, 2017, Molecular genetics and metabolism.

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

D. Cordeiro, S. Mercimek-Andrews, T. Athey, 2021, Genes.

Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome

D. Cordeiro, S. Mercimek-Andrews, G. Nimmo, 2021, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Genetic landscape of pediatric movement disorders and management implications

R. Cohn, D. Cordeiro, S. Mercimek-Andrews, 2018, Neurology: Genetics.

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

G. Costain, D. Cordeiro, S. Mercimek-Andrews, 2019, Neuroscience.

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy

S. Weiss, M. Inbar‐Feigenberg, E. Struys, 2016, Metabolic Brain Disease.

Outcome of Patients With Inherited Neurotransmitter Disorders

R. Cohn, D. Cordeiro, S. Mercimek-Andrews, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Marni J. Falk, J. Rosenfeld, S. Wells, 2016, American journal of human genetics.