Sarah Dyack
Halifax, NS, Canada
Last Updated: 09/26/2026
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Found 40 publications
Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.
Journal: Frontiers in genetics
Published: February 18, 2026
The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.
Journal: Orphanet journal of rare diseases
Published: December 09, 2025
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.
Journal: American journal of medical genetics. Part A
Published: October 14, 2025
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Journal: American journal of human genetics
Published: August 08, 2025
Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocol.
Journal: JBI evidence synthesis
Published: October 21, 2024
Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72: A Case Report.
Journal: Journal of geriatric psychiatry and neurology
Published: August 07, 2023
Family-centred care interventions for children with chronic conditions: A scoping review.
Journal: Health expectations : an international journal of public participation in health care and health policy
Published: June 30, 2023
Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.
Journal: Clinical genetics
Published: June 12, 2023
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Journal: BMC pediatrics
Published: May 19, 2023
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada.
Journal: American journal of medical genetics. Part A
Published: May 03, 2023
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
Journal: Journal of medical genetics
Published: September 26, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Journal: American journal of human genetics
Published: May 27, 2022
Last Updated: 09/26/2026