1. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. Issue 3 (18th January 2013) Authors: Handrigan, Gregory Ryan; Chitayat, David; Lionel, Anath C; Pinsk, Maury; Vaags, Andrea K; Marshall, Christian R; Dyack, Sarah; Escobar, Luis F; Fernandez, Bridget A; Stegman, Joseph C; Rosenfeld, Jill A; Shaffer, Lisa G; Goodenberger, McKinsey; Hodge, Jennelle C; Cain, Jason E; Babul-Hirji, Riyan... Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease. (10th December 2017) Authors: Jarrett, Pamela; Easton, Alexander; Rockwood, Kenneth; Dyack, Sarah; McCollum, Alexander; Siu, Victoria; Mirsattari, Seyed M.; Massot-Tarrús, Andreu; Beis, M. Jill; D'Souza, Nolan; Darvesh, Sultan Journal: Canadian journal of neurological sciences Issue: Volume 45:Number 2(2018) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Issue 1 (December 2016) Authors: Siddiq, Shabnaz; Wilson, Brenda; Graham, Ian; Lamoureux, Monica; Khangura, Sara; Tingley, Kylie; Tessier, Laure; Chakraborty, Pranesh; Coyle, Doug; Dyack, Sarah; Gillis, Jane; Greenberg, Cheryl; Hayeems, Robin; Jain-Ghai, Shailly; Kronick, Jonathan; Laberge, Anne-Marie; Little, Julian; Mitchell, ... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study. Issue 2 (22nd February 2022) Authors: Chow, Andrea J; Iverson, Ryan; Lamoureux, Monica; Tingley, Kylie; Jordan, Isabel; Pallone, Nicole; Smith, Maureen; Al-Baldawi, Zobaida; Chakraborty, Pranesh; Brehaut, Jamie; Chan, Alicia; Cohen, Eyal; Dyack, Sarah; Gillis, Lisa Jane; Goobie, Sharan; Graham, Ian D; Greenberg, Cheryl R; Grimshaw, J... Journal: BMJ open Issue: Volume 12:Issue 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. (November 2019) Authors: Paik, Karen; Lines, Matthew A.; Chakraborty, Pranesh; Khangura, Sara D.; Latocki, Maureen; Al-Hertani, Walla; Brunel-Guitton, Catherine; Khan, Aneal; Penny, Blaine; Rockman-Greenberg, Cheryl; Rupar, C. Anthony; Sondheimer, Neal; Tarnopolsky, Mark; Tingley, Kylie; Coyle, Doug; Dyack, Sarah; Feigen... Other Names: collab. Journal: Canadian journal of neurological sciences Issue: Volume 46:Number 6(2019) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses. Issue 1 (3rd September 2019) Authors: Jilani, Abdulhakim; Matviychuk, Diana; Blaser, Susan; Dyack, Sarah; Mathieu, Jean; Prasad, Asuri N.; Prasad, Chitra; Kyriakopoulou, Lianna; Mercimek‐Andrews, Saadet Journal: JIMD reports Issue: Volume 50:Issue 1(2019) Page Start: 20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature. Issue 2 (29th October 2022) Authors: Alghaith, Fahad A.; Arts, Heleen H.; Plourde, Francois J.; Boswall, Andrew; Gulati, Partima; McNeely, P. Daniel; Acott, Philip D.; Wong, Kenny K.; Dyack, Sarah Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 554 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Issue 1 (7th October 2020) Authors: Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. MG-139 Non-penetrance, variable expressivity or non pathogenicity of abcc9 dilated cardiomyopathy (DCM) mutation in 3 generation kindred. (4th December 2015) Authors: Dyack, Sarah; Crowley, Amy; Gray, Christopher; Hathaway, Julie; Marcadier, Janet; Van Iderstine, Natasha; Harrison, Karen; Gardner, Martin Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel splice‐site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1. Issue 3 (26th February 2013) Authors: Copeland, Emily; Renault, Nisa; Renault, Marc; Dyack, Sarah; Bulman, Dennis E; Bedard, Karen; Otley, Anthony; Magee, Fergall; Acott, Philip; Greer, Wenda L Journal: Journal of gastroenterology and hepatology Issue: Volume 28:Issue 3(2013:Mar.) Page Start: 560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗