Christian R. Marshall
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View article: Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function Open
View article: 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
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 Open
Introduction Rare diseases (RD) are collectively common and often genetic. Families value and can benefit from precise molecular diagnoses. Prolonged diagnostic odysseys exacerbate the burden of RD on patients, families and the healthcare …
View article: A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis
A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis Open
GS demonstrated higher costs and a similar diagnostic yield to ES but was limited by technical capabilities at the time of the study. The study provides comprehensive costs for the economic evaluation comparing alternative diagnostic pathw…
View article: Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort Open
Background RNA sequencing (RNA-seq) is emerging as a valuable tool for identifying disease-causing RNA transcript aberrations that cannot be identified by DNA-based testing alone. Previous studies demonstrated some success in utilizing RNA…
View article: Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing Open
View article: Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study Open
Background Genetics is an important contributor to autism spectrum disorder (ASD). Clinical guidelines endorse genetic testing in the medical workup of ASD, particularly tests that use whole genome sequencing (WGS) technology. While the cl…
View article: International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease Open
Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of precision medicine trans…
View article: An X-linked long non-coding RNA, PTCHD1-AS, regulates autistic behaviors in humans and in mice
An X-linked long non-coding RNA, PTCHD1-AS, regulates autistic behaviors in humans and in mice Open
There are ~100 genes or copy number variants (CNVs) used in genetic testing for Autism Spectrum Disorder (ASD, or autism). These genes are protein-coding, and the associated phenotypes often extend beyond socio-behavioral traits seen in au…
View article: P161: Impact and evolution of a philanthropic global network providing clinical genomic testing*
P161: Impact and evolution of a philanthropic global network providing clinical genomic testing* Open
View article: Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing Open
Despite advances in diagnostic testing and genome sequencing, the majority of individuals with rare genetic disorders remain undiagnosed. As a complement to genome sequencing, transcriptional profiling can provide insight into the function…
View article: Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations Open
Introduction Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternat…
View article: Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency Open
View article: A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods Open
Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criteri…
View article: Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action Open
View article: Utilization of Next Generation Sequencing to Define the Role of Heterozygous FOXN1 Mutations in Immune Disorders
Utilization of Next Generation Sequencing to Define the Role of Heterozygous FOXN1 Mutations in Immune Disorders Open
View article: A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources
A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources Open
Objectives: Spinal muscular atrophy (SMA) is a leading genetic cause of infant death and represents a significant burden of care. An improved understanding of the epidemiology of SMA in Canada may help inform strategies to improve the stan…
View article: O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium
O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium Open
Short read genome sequencing (sr-GS) is a powerful tool but is limited in detection of larger genomic changes and in non-unique regions of the genome. With greatly increased read lengths, long-read genome sequencing (lr-GS) provides accura…
View article: P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype
P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype Open
Chromatin modifying disorders are genetic conditions caused by germline pathogenic variants in genes encoding the epigenetic machinery. Epigenetic machinery regulates gene expression through DNA methylation, chromatin remodeling, and post-…
View article: P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape
P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape Open
Genome-wide sequencing (GWS) has been identified as a key strategy for achieving a timely diagnosis for patients with rare diseases. Prior to April 2021, access to all clinical GWS for Ontarians was facilitated by a Ministry of Health (MOH…
View article: P597: All for One Clinical Genomics Network: Linking Canadian diagnostic laboratories to share genome-wide sequencing data to support rare disease diagnosis
P597: All for One Clinical Genomics Network: Linking Canadian diagnostic laboratories to share genome-wide sequencing data to support rare disease diagnosis Open
Canada is a federation of 14 governments: one federal, ten provincial, and three territorial, that represent small and ethnically diverse populations. Although healthcare is publicly funded, its delivery is a provincial/territorial respons…
View article: P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study
P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study Open
A significant proportion of neonates and infants who present with epilepsy have been found to have an underlying genetic etiology. Genetic diagnoses can provide critical information for clinical management and ameliorate health outcomes. I…
View article: P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service
P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service Open
In Ontario, the most populated province in Canada (15M), access to clinical exome sequencing (ES) has historically been facilitated by a Ministry of Health (MOH) out-of-country exceptional access program. This process presented challenges …
View article: P873: “If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings
P873: “If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings Open
Genome-wide Sequencing (GWS) allows for identification of disease-causing genetic variants and may reveal secondary findings (SF). SF are variants in genes unrelated to the initial indication for testing but are associated with risk for ot…
View article: P580: Care4Rare Canada: Application of a multi-omics protocol to diagnose rare genetic disease patients at the end of standard-of-care*
P580: Care4Rare Canada: Application of a multi-omics protocol to diagnose rare genetic disease patients at the end of standard-of-care* Open
Accurate diagnosis is the cornerstone of medicine. This is of particular relevance to rare genetic diseases (RGD) in which an accurate molecular diagnosis can enable an understanding of their cause, progression, and familial risks. Advance…
View article: P642: Development and deployment of clinical genome sequencing using a cloud-based platform
P642: Development and deployment of clinical genome sequencing using a cloud-based platform Open
Genome-wide Sequencing Ontario (GSO) is a provincial platform designed to deliver clinical exome (ES) and genome (GS) sequencing for Ontarians with a suspected rare disease. The platform service, which is a partnership between CHEO (Childr…
View article: O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases
O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases Open
Diagnosing rare diseases in pediatric patients is challenging due to high phenotypic and genetic heterogeneity. Genome wide sequencing, including genome sequencing (GS) and exome sequencing (ES), have emerged as promising strategies for ac…
View article: P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing
P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing Open
Secondary findings (SF) are defined as genetic test results that are actively sought but unrelated to the primary indication for testing. Approximately 1-4% of individuals having genome-wide sequencing (GWS) receive a medically actionable …
View article: Uncovering the Association Between Complete AZFc Microduplications and Spermatogenic Ability: The First Reported Series
Uncovering the Association Between Complete AZFc Microduplications and Spermatogenic Ability: The First Reported Series Open
Purpose This article aims to report the first series of men with complete AZFc microduplications and their clinical and reproductive characteristics. Methods We sampled 3000 men who presented for reproductive urology evaluation from…
View article: GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors Open
This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated wi…
View article: Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study Open
American Academy of Pediatrics, Boston Children's Hospital Children's Rare Disease Cohorts Initiative, Canadian Institutes of Health Research, Epilepsy Canada, Feiga Bresver Academic Foundation, Great Ormond Street Hospital Charity, Medica…