1. A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. Issue 9 (1st September 2001) Authors: Rupar, C Anthony; Matsell, Douglas; Surry, Susan; Siu, Victoria Journal: Journal of medical genetics Issue: Volume 38:Issue 9(2001) Page Start: 615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Issue 1 (December 2016) Authors: Oud, Machteld; Bonnard, Carine; Mans, Dorus; Altunoglu, Umut; Tohari, Sumanty; Ng, Alvin; Eskin, Ascia; Lee, Hane; Rupar, C.; Wagenaar, Nathalie; Wu, Ka; Lahiry, Piya; Pazour, Gregory; Nelson, Stanley; Hegele, Robert; Roepman, Ronald; Kayserili, Hülya; Venkatesh, Byrappa; Siu, Victoria; Reversade... Journal: Cilia Issue: Volume 5:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes. Issue 1 (December 2018) Authors: Aref-Eshghi, Erfan; Bend, Eric; Hood, Rebecca; Schenkel, Laila; Carere, Deanna; Chakrabarti, Rana; Nagamani, Sandesh; Cheung, Sau; Campeau, Philippe; Prasad, Chitra; Siu, Victoria; Brady, Lauren; Tarnopolsky, Mark; Callen, David; Innes, A.; White, Susan; Meschino, Wendy; Shuen, Andrew; Paré, Guil... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019) Authors: Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr... Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019) Authors: Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr... Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population. (6th May 2015) Authors: Hashemi, Bita; Bassett, Anne; Chitayat, David; Chong, Karen; Feldman, Mark; Flanagan, Janine; Goobie, Sharan; Kawamura, Anne; Lowther, Chelsea; Prasad, Chitra; Siu, Victoria; So, Joyce; Tung, Sharon; Speevak, Marsha; Stavropoulos, Dimitri J.; Carter, Melissa T. Journal: American journal of medical genetics Issue: Volume 167:Number 9(2015:Sep.) Page Start: 2098 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia. Issue 1 (13th November 2013) Authors: Sawyer, Sarah L.; Schwartzentruber, Jeremy; Beaulieu, Chandree L.; Dyment, David; Smith, Amanda; Chardon, Jodi Warman; Yoon, Grace; Rouleau, Guy A.; Suchowersky, Oksana; Siu, Victoria; Murphy, Lisa; Hegele, Robert A.; Marshall, Christian R.; Bulman, Dennis E.; Majewski, Jacek; Tarnopolsky, Mark; ... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022) Authors: Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ... Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗