Ryan E. Lamont
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View article: Optimal Recovery Following Pediatric Concussion
Optimal Recovery Following Pediatric Concussion Open
Importance Pediatric concussion affects millions and results in heterogeneous outcomes and recovery trajectories. Given favorable outcome for most children, it is useful to understand characteristics of positive outcome to promote full rec…
View article: Shorter Telomere Length Is Associated With Older Age, Poor Sleep Hygiene, and Orthopedic Injury, but Not Mild Traumatic Brain Injury, in a Cohort of Canadian Children
Shorter Telomere Length Is Associated With Older Age, Poor Sleep Hygiene, and Orthopedic Injury, but Not Mild Traumatic Brain Injury, in a Cohort of Canadian Children Open
Background: Predicting recovery following pediatric mild traumatic brain injury (mTBI) remains challenging. The identification of objective biomarkers for prognostic purposes could improve clinical outcomes. Telomere length (TL) has previo…
View article: Longitudinal changes in brain metabolites following pediatric concussion
Longitudinal changes in brain metabolites following pediatric concussion Open
Concussion is commonly characterized by a cascade of neurometabolic changes following injury. Magnetic Resonance Spectroscopy (MRS) can be used to quantify neurometabolites non-invasively. Longitudinal changes in neurometabolites have rare…
View article: Association of Posttraumatic Headache With Symptom Burden After Concussion in Children
Association of Posttraumatic Headache With Symptom Burden After Concussion in Children Open
Importance Headache is the most common symptom after pediatric concussion. Objectives To examine whether posttraumatic headache phenotype is associated with symptom burden and quality of life 3 months after concussion. Design, Setting, and…
View article: Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo Open
Mutations in RNA-binding proteins can lead to pleiotropic phenotypes including craniofacial, skeletal, limb, and neurological symptoms. Heterogeneous nuclear ribonucleoproteins (hnRNPs) are involved in nucleic acid binding, transcription, …
View article: The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing Open
Sickle cell disease (SCD), a group of inherited red blood cell (RBC) disorders caused by pathogenic variants in the beta-globin gene (HBB), can cause lifelong disabilities and/or early mortality. If diagnosed early, preventative measures s…
View article: Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository Open
Background This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing …
View article: <i>De novo</i> variants in <i>MPP5</i> cause global developmental delay and behavioral changes
<i>De novo</i> variants in <i>MPP5</i> cause global developmental delay and behavioral changes Open
Membrane Protein Palmitoylated 5 (MPP5) is a highly conserved apical complex protein essential for cell polarity, fate and survival. Defects in cell polarity are associated with neurologic disorders including autism and microcephaly. MPP5 …
View article: Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo Open
Mutations in RNA binding proteins can lead to pleiotropic phenotypes including craniofacial, skeletal, limb and neurological symptoms. Heterogeneous Nuclear Ribonucleoproteins (hnRNPs) are involved in nucleic acid binding, transcription an…
View article: Biallelic <i>CACNA2D2</i> variants in epileptic encephalopathy and cerebellar atrophy
Biallelic <i>CACNA2D2</i> variants in epileptic encephalopathy and cerebellar atrophy Open
Objective To characterize the molecular and clinical phenotypic basis of developmental and epileptic encephalopathies caused by rare biallelic variants in CACNA2D2 . Methods Two affected individuals from a family with clinical features of …
View article: <i>PISD</i> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
<i>PISD</i> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes Open
Exome sequencing of two sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene, encoding the phosphatidylserine decarboxylase enzyme that converts phosphatidyls…
View article: <i>PISD</i>is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
<i>PISD</i>is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes Open
Exome sequencing of two sisters with congenital cataracts, short stature and white matter changes identified compound heterozygous variants in the PISD gene, encoding the phosphatidylserine decarboxylase enzyme that converts phosphatidylse…
View article: Advancing Concussion Assessment in Pediatrics (A-CAP): a prospective, concurrent cohort, longitudinal study of mild traumatic brain injury in children: study protocol
Advancing Concussion Assessment in Pediatrics (A-CAP): a prospective, concurrent cohort, longitudinal study of mild traumatic brain injury in children: study protocol Open
Introduction Paediatric mild traumatic brain injury (mTBI) is a public health burden. Clinicians urgently need evidence-based guidance to manage mTBI, but gold standards for diagnosing and predicting the outcomes of mTBI are lacking. The o…
View article: Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency Open
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age…
View article: An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping
An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping Open
Cell-free DNA (cfDNA) has significant potential in the diagnosis and monitoring of clinical conditions. However, accurately and easily distinguishing the relative proportion of DNA molecules in a mixture derived from two different sources …