1. A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease. Issue 5 (29th June 2020) Authors: Gabaton, Niña; Kannu, Peter; Pope, Elena; Shugar, Andrea; Lara‐Corrales, Irene Journal: Pediatric dermatology Issue: Volume 37:Issue 5(2020) Page Start: 868 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. Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. Issue 2 (19th November 2022) Authors: Mainali, Apurba; Athey, Taryn; Bahl, Shalini; Hung, Clara; Caluseriu, Oana; Chan, Alicia; Eaton, Alison; Ghai, Shailly Jain; Kannu, Peter; MacPherson, Melissa; Niederhoffer, Karen Y.; Siriwardena, Komudi; Mercimek‐Andrews, Saadet Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 510 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease. Issue 4 (25th February 2019) Authors: Deshwar, Ashish R.; Spielmann, Malte; Vi, Lisa; Mendoza‐Londono, Roberto; Dupuis, Lucie; Stimec, Jennifer; Howard, Andrew; Harrington, Jennifer; Kannu, Peter Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ELOVL4 with erythrokeratoderma: A pediatric case and emerging genodermatosis. Issue 5 (3rd March 2021) Authors: Croitoru, David; Lu, Justin D.; Lara‐Corrales, Irene; Kannu, Peter; Pope, Elena Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy. Issue 8 (30th June 2020) Authors: Earl, Brian R.; Szybowska, Marta; Marwaha, Ashish; Belostotsky, Vladimir; Lara‐Corrales, Irene; Pope, Elena; Kannu, Peter Journal: Journal of dermatology Issue: Volume 47:Issue 8(2020) Page Start: 898 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Homozygous mutation in PRUNE1 in an Oji‐Cree male with a complex neurological phenotype. Issue 3 (17th February 2017) Authors: Costain, Gregory; Shugar, Andrea; Krishnan, Pradeep; Mahmutoglu, Saadet; Laughlin, Suzanne; Kannu, Peter Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 740 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Homozygous mutation in PRUNE1 in an Oji‐Cree male with a complex neurological phenotype. Issue 3 (March 2017) Authors: Costain, Gregory; Shugar, Andrea; Krishnan, Pradeep; Mahmutoglu, Saadet; Laughlin, Suzanne; Kannu, Peter Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 740 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. (March 2022) Authors: Savarirayan, Ravi; De Bergua, Josep Maria; Arundel, Paul; McDevitt, Helen; Cormier-Daire, Valerie; Saraff, Vrinda; Skae, Mars; Delgado, Borja; Leiva-Gea, Antonio; Santos-Simarro, Fernando; Salles, Jean Pierre; Nicolino, Marc; Rossi, Massimiliano; Kannu, Peter; Bober, Michael B.; Phillips, John; S... Journal: Therapeutic advances in musculoskeletal disease Issue: Volume 14(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗