Publications by authors named "Stacy Hewson"

Claim this Profile
I
Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic Information.
Leah Hammond, Christina Ippolito, Kimberly Amburgey, David Chitayat, Stacy Hewson

J Child Neurol· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
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.
Kaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, Oana Caluseriu, Natalie Del Signore, Stacy Hewson

BMJ Open· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.
Tugce B Balci, Laila C Schenkel, Cassandra Rastin, Kevin Jones, Lysa Boissé Lomax, Stacy Hewson

Can J Neurol Sci· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
Guylaine D'Amours, Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Stacy Hewson

BMJ Open· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.
Maria Al Bandari, Laura Nagy, Vivian Cruz, Stacy Hewson, Alomgir Hossain

Int J Neonatal Screen· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Stacy Hewson

Genet Med· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
James P Allen, Kathryn B Garber, Riley Perszyk, Cara T Khayat, Steven A Kell, Stacy Hewson

Hum Mol Genet· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Stacy Hewson

Genet Med· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.
Megan A Dickson, Laura Zahavich, Janet Rush, Stacy Hewson, David Chitayat

CJC Pediatr Congenit Heart Dis· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Rachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Stacy Hewson

Genet Med· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Robin Z Hayeems, Stephanie Luca, Wendy J Ungar, Viji Venkataramanan, Kate Tsiplova, Stacy Hewson

Genet Med· February 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in and Causing Overlapping Phenotypes.
Zhuo Shao, Ikuo Masuho, Anupreet Tumber, Jason T Maynes, Erika Tavares, Stacy Hewson

Genes (Basel)· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Stacy Hewson

Genet Med· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort.
Daad Alsowat, Robyn Whitney, Stacy Hewson, Puneet Jain, Valerie Chan

Child Neurol Open· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Cross-Sectional Study of Nemaline Myopathy.
Kimberly Amburgey, Meryl Acker, Samia Saeed, Reshma Amin, Alan H Beggs, Stacy Hewson

Neurology· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Outcomes of patients with cobalamin C deficiency: A single center experience.
Danielle K Bourque, Lizbeth E Mellin-Sanchez, Garrett Bullivant, Vivian Cruz, Anette Feigenbaum, Stacy Hewson

JIMD Rep· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Maian Roifman, Kirsten M Niles, Lauren MacNeil, Susan Blaser, Abdul Noor, Stacy Hewson

Clin Genet· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ALU transposition induces familial hypertrophic cardiomyopathy.
Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan-Jordan, Melanie Beaulieu Bergeron, Stacy Hewson

Mol Genet Genomic Med· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Erin Torti, Boris Keren, Elizabeth E Palmer, Zehua Zhu, Alexandra Afenjar, Stacy Hewson

Genet Med· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
Michal Inbar-Feigenberg, Susan Blaser, Cynthia Hawkins, Patrick Shannon, Stacy Hewson

Metab Brain Dis· August 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S Reuter, Meaghan Snell, Stacy Hewson

Eur J Hum Genet· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, Stacy Hewson

Genet Med· April 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.
Stacy Hewson, Ledia Brunga, Matilde Fernandez Ojeda, Elizabeth Imhof, Jaina Patel

Can J Neurol Sci· January 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ deficiency.
Neal Sondheimer, Stacy Hewson, Jessie M Cameron, Gino R Somers, Jane Dunning Broadbent

Mol Genet Metab Rep· September 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu

Am J Med Genet A· August 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis