1. 672 Carbonic Anhydrase (CA-VA) deficiency: an under recognized cause of neonatal hyperammonemia with excellent outcome on proactive management. (17th August 2022) Authors: Ibrahim, Judy; Ratko, Suzanne; Napier, Melanie; Karp, Natalya; Anthony Rupar, C; Prasad, Chitra Journal: Archives of disease in childhood Issue: Volume 107(2022)Supplement 2 Page Start: A200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. Issue 6 (1st April 2019) Authors: Zapata‐Aldana, Eugenio; Al‐Mobarak, Sulaiman B.; Karp, Natalya; Campbell, Craig Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 1034 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes. Issue 3 (19th January 2022) Authors: Yang, Jennifer H.; Friederich, Marisa W.; Ellsworth, Katarzyna A.; Frederick, Aliya; Foreman, Emily; Malicki, Denise; Dimmock, David; Lenberg, Jerica; Prasad, Chitra; Yu, Andrea C.; Anthony Rupar, C.; Hegele, Robert A.; Manickam, Kandamurugu; Koboldt, Daniel C.; Crist, Erin; Choi, Samantha S.; Fa... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience. (3rd March 2021) Authors: Lee, So; Karp, Natalya; Zapata-Aldana, Eugenio; Sadikovic, Bekim; Yang, Ping; Balci, Tugce B; Prasad, Asuri N Journal: Canadian journal of neurological sciences Issue: Volume 48:Number 2(2021) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity. Issue 3 (22nd May 2021) Authors: Chiu, Melissa; Garabon, Justin; Chen, Lina; Karp, Natalya; Kapoor, Akshay; Woolfson, Jessica P. Journal: Hepatology Issue: Volume 74:Issue 3(2021) Page Start: 1702 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. Issue 1 (21st October 2015) Authors: Slaats, Gisela G; Isabella, Christine R; Kroes, Hester Y; Dempsey, Jennifer C; Gremmels, Hendrik; Monroe, Glen R; Phelps, Ian G; Duran, Karen J; Adkins, Jonathan; Kumar, Sairam A; Knutzen, Dana M; Knoers, Nine V; Mendelsohn, Nancy J; Neubauer, David; Mastroyianni, Sotiria D; Vogt, Julie; Worgan, ... Journal: Journal of medical genetics Issue: Volume 53:Issue 1(2016) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗