Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

by Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini
Published 2017-09-01

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in <i>MCCC1</i> and <i>GNB5</i> Causing Overlapping Phenotypes

by Zhuo Shao, Ikuo Masuho, Anupreet Tumber, Jason T. Maynes, Erika Tavares, Asim Ali, Stacy Hewson, Andreas Schulze, Peter Kannu, Kirill A. Martemyanov, Ajoy Vincent
Published 2021-08-01

ALU transposition induces familial hypertrophic cardiomyopathy

by Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova
Published 2020-01-01

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort

by Daad Alsowat MD, Robyn Whitney MD, Stacy Hewson MSc, CCG, CCGC, Puneet Jain MD, DM, Valerie Chan RN, Nadia Kabir MBSS, Kimberly Amburgey MS, GCG, Damien Noone MB BCh BAO MSc, Mathieu Lemaire MDCM, PhD, Blathnaid McCoy MB BCh BAO MSc, Maria Zak MN, NP
Published 2021-05-01