1. A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin‐Siris syndrome. Issue 8 (24th May 2022) Authors: MacDonald, Stella K.; Marshall, Aren E.; Lemire, Gabrielle; Hartley, Taila; Kernohan, Kristin D.; Boycott, Kym M. Journal: American journal of medical genetics Issue: Volume 188:Issue 8(2022) Page Start: 2493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022) Authors: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; E... Journal: Annals of neurology Issue: Volume 92:Issue 2(2022) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy. Issue 5 (11th February 2021) Authors: McMillan, Hugh J.; Marshall, Aren E.; Venkateswaran, Sunita; Hartley, Taila; Warman‐Chardon, Jodi; Ramani, Arun K.; Marshall, Christian R.; Michaud, Jean; Boycott, Kym M.; Dyment, David A.; Kernohan, Kristin D. Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 746 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗