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. A National Spinal Muscular Atrophy Registry for Real-World Evidence. (4th November 2020) Authors: Hodgkinson, Victoria L.; Oskoui, Maryam; Lounsberry, Joshua; M'Dahoma, Saïd; Butler, Emily; Campbell, Craig; MacKenzie, Alex; McMillan, Hugh J.; Simard, Louise; Vajsar, Jiri; Brais, Bernard; Chapman, Kristine M.; Chrestian, Nicolas; Crone, Meghan; Dobrowolski, Peter; Dojeiji, Susan; Dowling, Jame... Journal: Canadian journal of neurological sciences Issue: Volume 47:Number 6(2020) Page Start: 810 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A natural history study of X-linked myotubular myopathy. (26th September 2017) Authors: Amburgey, Kimberly; Tsuchiya, Etsuko; de Chastonay, Sabine; Glueck, Michael; Alverez, Rachel; Nguyen, Cam-Tu; Rutkowski, Anne; Hornyak, Joseph; Beggs, Alan H.; Dowling, James J. Journal: Neurology Issue: Volume 89:Number 13(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic LINE insertion mutation in HACD1 causing congenital myopathy. (June 2020) Authors: Al Amrani, Fatema; Gorodetsky, Carolina; Hazrati, Lili-Naz; Amburgey, Kimberly; Gonorazky, Hernan D.; Dowling, James J. Journal: Neurology Issue: Volume 6:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Issue 3 (29th November 2022) Authors: Hartley, Taila; Soubry, Élisabeth; Acker, Meryl; Osmond, Matthew; Couse, Madeline; Gillespie, Meredith K.; Ito, Yoko; Marshall, Aren E.; Lemire, Gabrielle; Huang, Lijia; Chisholm, Caitlin; Eaton, Alison J.; Price, E. Magda; Dowling, James J.; Ramani, Arun K.; Mendoza‐Londono, Roberto; Costain, Gr... Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 288 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly. (21st September 2021) Authors: Qashqari, Hebah; Ramani, Arun; Gonorazky, Hernan; Amburgey, Kimberly; Ghahramani Seno, Mohammad M.; Brudno, Michael; Naumenko, Sergey; Das, Soma; Dowling, James J. Journal: Neurology Issue: Volume 97:Number 12(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses. Issue 1 (19th January 2021) Authors: Dowling, James J.; Riazi, Sheila; Litman, Ronald S. Journal: A & A practice Issue: Volume 15:Issue 1(2020) Page Start: e01377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses. Issue 1 (January 2021) Authors: Dowling, James J.; Riazi, Sheila; Litman, Ronald S. Journal: A & A practice Issue: Volume 15:Issue 1(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Malignant Hyperthermia Susceptibility and Related Diseases. (January 2018) Authors: Litman, Ronald S.; Griggs, Sarah M.; Dowling, James J.; Riazi, Sheila Journal: Anesthesiology Issue: Volume 128:Number 1(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy. (October 2017) Authors: Al-Hashim, Aqeela; Gonorazky, Hernan D.; Amburgey, Kimberly; Das, Soma; Dowling, James J. Journal: Neurology Issue: Volume 3:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗