Sarah Bowdin
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View article: Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis
Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis Open
Periodic reanalysis of genome sequence data in rare diseases to improve diagnostic rates is recommended every 18-months. However, cost can be a major consideration. We compared the cost of two reanalysis methods: (A) resequencing of stored…
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: Utility of Whole Genome Sequencing in Cerebral Palsy – A UK Paediatric Pilot Study
Utility of Whole Genome Sequencing in Cerebral Palsy – A UK Paediatric Pilot Study 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: Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice
Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice Open
View article: Benefits for children with suspected cancer from routine whole-genome sequencing
Benefits for children with suspected cancer from routine whole-genome sequencing Open
Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk patient groups. It remains unknown whether offering WGS to every child with suspected cancer ca…
View article: Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples Open
View article: Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays Open
View article: The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease Open
This data set demonstrates the diagnostic and scientific value of genome sequencing in pediatric heart disease, anticipating its role as a first-tier diagnostic test. The genetic heterogeneity will necessitate large-scale genomic initiativ…
View article: A call for global action for rare diseases in Africa
A call for global action for rare diseases in Africa Open
View article: Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis Open
The case of a young boy with pulmonary haemorrhage who was ultimately diagnosed on whole exome sequencing with a rare condition called prolidase deficiency. This case demonstrates the utility of modern genomic testing in paediatric rare…
View article: Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children Open
View article: Issue Information
Issue Information Open
View article: Reappraisal of Reported Genes for Sudden Arrhythmic Death
Reappraisal of Reported Genes for Sudden Arrhythmic Death Open
Background: Implicit in the genetic evaluation of patients with suspected genetic diseases is the assumption that the genes evaluated are causative for the disease based on robust scientific and statistical evidence. However, in the past 2…
View article: Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP Open
View article: Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing Open
View article: The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants Open
Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically rele…
View article: A204 FIBRINOGEN STORAGE DISEASE:A CASE SERIES AND LITERATURE REVIEW
A204 FIBRINOGEN STORAGE DISEASE:A CASE SERIES AND LITERATURE REVIEW Open
BACKGROUND: Fibrinogen Storage Disease (FSD) is characterized by hypofibrinogenemia and hepatic inclusions due to impaired release of mutant fibrinogen causing aggregation in the hepatic endoplasmic reticulum. AIMS: Review of clinical, lab…
View article: Whole Genome Sequence Analysis of Intensively Ill Children: A Prospective Study of Parent-Child Trios in the UK
Whole Genome Sequence Analysis of Intensively Ill Children: A Prospective Study of Parent-Child Trios in the UK Open
View article: Issue Information
Issue Information Open
View article: Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray Open
View article: Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy
Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy Open
Children with hypertrophic cardiomyopathy (HCM) experience sudden cardiac death (SCD) and other life‐threatening events. We assessed if affected gene and variant burden predict outcomes. Patients <18 years old with primary HCM with a patho…
View article: 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 Open
View article: Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study Open
Whole-genome sequencing and whole-exome sequencing have proven valuable for diagnosing inherited diseases, particularly in children. However, usage of sequencing data as a pharmacogenetic screening tool to ensure medication safety and effe…
View article: Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease
Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease Open
View article: Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?
Clinical genetic testing in pediatric cardiomyopathy: Is bigger better? Open
Background For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted panels specific to a CMP phenotype or expanded (panCMP) panels that include genes associated with multipl…
View article: <i>FGFR‐</i>associated craniosynostosis syndromes and gastrointestinal defects
<i>FGFR‐</i>associated craniosynostosis syndromes and gastrointestinal defects Open
Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS), and Apert (AS) syndrome, with clinical c…
View article: The clinical utility of next-generation sequencing in the neonatal intensive care unit
The clinical utility of next-generation sequencing in the neonatal intensive care unit Open
See also page [E254][1] and [www.cmaj.ca/lookup/doi/10.1503/cmaj.150823][2] For infants with suspected genetic or metabolic conditions who are admitted to the neonatal intensive care unit, an accurate and timely diagnosis allows management…
View article: Recommendations for the integration of genomics into clinical practice
Recommendations for the integration of genomics into clinical practice Open
View article: Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine Open