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Patient Education and Counseling|August 25, 2009
A sociolinguistic exploration of genetic counseling discourse involving a child with a new genetic diagnosisRiyana Babul-Hirji, Stacy Hewson, Marina FrescuraAmerican Journal of Medical Genetics. Part A|June 12, 2017
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizuresStacy Hewson, Klajdi Puka, Saadet Mercimek-MahmutogluJournal of Genetic Counseling|February 6, 2007
Assessing the informational needs of adolescents with a genetic condition: what do they want to know?Marta Szybowska, Stacy Hewson, Beverley J Antle, et al.Pediatric Neurology|August 1, 2014
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophyChristel Tran, Stacy Hewson, Steven J Steinberg, et al.Journal of Child Neurology|April 17, 2025
Interests and Experiences of Young Adults with Muscular Dystrophy in Receiving Genetic InformationLeah Hammond, Christina Ippolito, Kimberly Amburgey, et al.Metabolic Brain Disease|March 26, 2018
Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrestMichal Inbar-Feigenberg, Susan Blaser, Cynthia Hawkins, et al.International Journal of Neonatal Screening|April 23, 2024
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart ReviewMaria Al Bandari, Laura Nagy, Vivian Cruz, et al.American Journal of Medical Genetics. Part A|December 31, 2003
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assayAnnette Feigenbaum, Robert Moore, Joe Clarke, et al.CJC Pediatric and Congenital Heart Disease|November 16, 2023
Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent PopulationMegan A Dickson, Laura Zahavich, Janet Rush, et al.JIMD Reports|November 14, 2013
Danon Disease Due to a Novel LAMP2 MicroduplicationMatthew A Lines, Stacy Hewson, William Halliday, et al.Pageof 4