1. A Cross-Sectional Study of Nemaline Myopathy. (9th March 2021) Authors: Amburgey, Kimberly; Acker, Meryl; Saeed, Samia; Amin, Reshma; Beggs, Alan H.; Bönnemann, Carsten G.; Brudno, Michael; Constantinescu, Andrei; Dastgir, Jahannaz; Diallo, Mamadou; Genetti, Casie A.; Glueck, Michael; Hewson, Stacy; Hum, Courtney; Jain, Minal S.; Lawlor, Michael W.; Meyer, Oscar H.; ... Journal: Neurology Issue: Volume 96:Number 10(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ALU transposition induces familial hypertrophic cardiomyopathy. Issue 1 (30th September 2019) Authors: Nfonsam, Landry; Huang, Lijia; Carson, Nancy; McGowan‐Jordan, Jean; Beaulieu Bergeron, Melanie; Goobie, Sharan; Conacher, Susan; McCarty, David; Benson, Lee; Hewson, Stacy; Zahavich, Laura; Sinclair‐Bourque, Elizabeth; Smith, Amanda; Potter, Ryan; Ghani, Mahdi; Bronicki, Lucas; Jarinova, Olga Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 1(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (25th March 2015) Authors: Mercimek‐Mahmutoglu, Saadet; Patel, Jaina; Cordeiro, Dawn; Hewson, Stacy; Callen, David; Donner, Elizabeth J.; Hahn, Cecil D.; Kannu, Peter; Kobayashi, Jeff; Minassian, Berge A.; Moharir, Mahendranath; Siriwardena, Komudi; Weiss, Shelly K.; Weksberg, Rosanna; Snead, O. Carter Journal: Epilepsia Issue: Volume 56:issue 5(2015:May) Page Start: 707 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency. Issue 6 (1st October 2020) Authors: Roifman, Maian; Niles, Kirsten M.; MacNeil, Lauren; Blaser, Susan; Noor, Abdul; Godoy, Ruth; van Mieghem, Tim; Ryan, Greg; Seaward, Gareth; Sondheimer, Neal; Mercimek‐Andrews, Saadet; Schulze, Andreas; Hewson, Stacy; Ovadia, Adi; Chitayat, David; Morgen, Eric K.; Hojilla, Carlo; Kolomietz, Elena;... Journal: Clinical genetics Issue: Volume 98:Issue 6(2020) Page Start: 613 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Outcomes of patients with cobalamin C deficiency: A single center experience. Issue 1 (8th November 2020) Authors: Bourque, Danielle K.; Mellin‐Sanchez, Lizbeth E.; Bullivant, Garrett; Cruz, Vivian; Feigenbaum, Anette; Hewson, Stacy; Raiman, Julian; Schulze, Andreas; Siriwardena, Komudi; Mercimek‐Andrews, Saadet Journal: JIMD reports Issue: Volume 57:Issue 1(2021) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic. (16th November 2017) Authors: Hewson, Stacy; Brunga, Ledia; Ojeda, Matilde Fernandez; Imhof, Elizabeth; Patel, Jaina; Zak, Maria; Donner, Elizabeth J.; Kobayashi, Jeff; Salomons, Gajja S.; Mercimek-Andrews, Saadet Journal: Canadian journal of neurological sciences Issue: Volume 45:Number 1(2018) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort. (3rd May 2021) Authors: Alsowat, Daad; Whitney, Robyn; Hewson, Stacy; Jain, Puneet; Chan, Valerie; Kabir, Nadia; Amburgey, Kimberly; Noone, Damien; Lemaire, Mathieu; McCoy, Blathnaid; Zak, Maria Journal: Child neurology open Issue: Volume 8(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Variable expressivity of a likely pathogenic variant in KCNQ2 in a three‐generation pedigree presenting with intellectual disability with childhood onset seizures. Issue 8 (11th June 2017) Authors: Hewson, Stacy; Puka, Klajdi; Mercimek‐Mahmutoglu, Saadet Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗