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View article: An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Open
View article: Family‐centred care interventions for children with chronic conditions: A scoping review
Family‐centred care interventions for children with chronic conditions: A scoping review Open
Introduction Children with chronic conditions have greater health care needs than the general paediatric population but may not receive care that centres their needs and preferences as identified by their families. Clinicians and researche…
View article: Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency Open
Background Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogena…
View article: P480: Parent and healthcare personnel perspectives on challenges to family-centered care for children with inherited metabolic diseases: A qualitative analysis
P480: Parent and healthcare personnel perspectives on challenges to family-centered care for children with inherited metabolic diseases: A qualitative analysis Open
Family-centered care is a concept that engages children and families as integral members of health care teams and is a marker of high-quality health care systems. There is limited evidence about the specific aspects of positive or negative…
View article: Recurrence of a <scp> <i>BBS1</i> </scp> variant in <scp>Bardet–Biedl</scp> patients from Prince Edward Island
Recurrence of a <span> <i>BBS1</i> </span> variant in <span>Bardet–Biedl</span> patients from Prince Edward Island Open
This study reports variants in BBS1 and BBS7 in patients with Bardet-Biedl syndrome from the Canadian Maritime provinces. The BBS1 variant NM_024649.5:c.1169T>G was identified as a recurrent variant in Prince Edward Island.
View article: Epidemiology of spinal muscular atrophy caused by <scp><i>SMN1</i></scp> deletions in Maritime Canada
Epidemiology of spinal muscular atrophy caused by <span><i>SMN1</i></span> deletions in Maritime Canada Open
Spinal muscular atrophy (SMA), caused primarily by deletions in SMN1 , leads to progressive loss of lower motor neurons. Newborn screening for SMA is under consideration for the Maritime Newborn Screening Program. The incidence of this dis…
View article: Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in <i>C9orf72</i>: A Case Report
Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in <i>C9orf72</i>: A Case Report Open
The case report describes the presentation of a 42-year-old male ultimately diagnosed with FTD-ALS caused by a genetic mutation, who initially presented with atypical psychiatric symptoms. Given that the initial clinical manifestations of …
View article: Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) Open
Purpose and scope The aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with neurodevelopmental disorders (NDDs), specifically, patients with …
View article: An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Open
View article: Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study
Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study Open
Introduction Children with inherited metabolic diseases (IMDs) often have complex and intensive healthcare needs and their families face challenges in receiving high-quality, family centred health services. Improvement in care requires com…
View article: Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?
Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target? Open
Early-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newb…
View article: A Case Series of <i>TERC</i> Variant Telomere Biology Disorders in Unrelated Families From Atlantic Canada
A Case Series of <i>TERC</i> Variant Telomere Biology Disorders in Unrelated Families From Atlantic Canada Open
TERC variant telomere biology disorders (TBDs) are a rare, heterogenous group of disorders that arise from germline variants in TERC, a gene that encodes for the RNA component of telomerase. Variants in TERC lead to ac…
View article: Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder Open
View article: A novel SCN5A gene mutation causing LQT3 with unique phenotype in a large canadian kindred
A novel SCN5A gene mutation causing LQT3 with unique phenotype in a large canadian kindred Open
Background SCN5A gene mutations are associated with diverse clinical phenotypes including Long QT (LQT) Syndrome, Brugada Syndrome, progressive conduction system disease and cardiomyopathy. Objective We identified a novel SCN5A variant (T7…
View article: Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum Open
Biallelic mutations in SNORD118 , encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes…
View article: Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network Open
View article: Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review Open
View article: MOESM3 of Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
MOESM3 of Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review Open
Additional file 3. Microsoft Excel document (.xlsx). Title: Review database. Description: Database of the studies included in data synthesis
View article: High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses Open
Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test resu…
View article: Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians Open
Background: An improved understanding of diagnostic and treatment practices for patients with rare primary mitochondrial disorders can support benchmarking against guidelines and establish priorities for evaluative research. We aimed to de…
View article: De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures Open
View article: Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy Open
View article: CJN volume 45 issue 2 Cover and Front matter
CJN volume 45 issue 2 Cover and Front matter Open
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View article: Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease Open
Objective: Neuronal ceroid-lipofuscinoses are a heterogeneous group of inherited disorders in which abnormal lipopigments form lysosomal inclusion bodies in neurons. Kufs disease is rare, and clinical symptoms include seizures, progressive…
View article: Genotype and phenotype spectrum of NRAS germline variants
Genotype and phenotype spectrum of NRAS germline variants Open
View article: Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study Open
View article: Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man Open