1. A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. (10th July 2018) Authors: Wang, Linda R.; Radonjic, Aleksandar; Dilliott, Allison A.; McIntyre, Adam D.; Hegele, Robert A. Journal: Journal of investigative medicine high impact case reports Issue: Volume 6(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin–angiotensin pathway, without renal tubular dysgenesis. Issue 10 (17th August 2020) Authors: Dilliott, Allison A.; Wang, Jian; Brown, Emma; Singh, Gagandeep; Shkrum, Michael J.; Clin, Madeleine; Rupar, Charles Anthony; Hegele, Robert A.; Siu, Victoria Mok Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characteristics of the Ontario Neurodegenerative Disease Research Initiative cohort. Issue 1 (30th March 2022) Authors: Sunderland, Kelly M.; Beaton, Derek; Arnott, Stephen R.; Kleinstiver, Peter; Kwan, Donna; Lawrence‐Dewar, Jane M.; Ramirez, Joel; Tan, Brian; Bartha, Robert; Black, Sandra E.; Borrie, Michael; Brien, Donald; Casaubon, Leanne K.; Coe, Brian C.; Cornish, Benjamin; Dilliott, Allison A.; Dowlatshahi,... Other Names: Abrahao Agessandro investigator.; Adamo Sabrina investigator.; Berezuk Courtney investigator.; Black Alanna investigator.; Breen David P. investigator.; Bulman Dennis investigator.; Chen Ying investigator.; El‐Defrawy Sherif investigator.; Farhan Sali investigator.; Ghani Mahdi investigator.; Gon... Journal: Alzheimer's & dementia Issue: Volume 19:Issue 1(2023) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative. (15th August 2019) Authors: Dilliott, Allison A.; Evans, Emily C.; Farhan, Sali M.K.; Ghani, Mahdi; Sato, Christine; Zhang, Ming; McIntyre, Adam D.; Cao, Henian; Racacho, Lemuel; Robinson, John F.; Strong, Michael J.; Masellis, Mario; Bulman, Dennis E.; Rogaeva, Ekaterina; Black, Sandra E.; Finger, Elizabeth; Frank, Andrew;... Journal: Canadian journal of neurological sciences Issue: Volume 46:Number 5(2019) Page Start: 491 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identifying the Genetic Basis of Vascular Cognitive Impairment Using a Custom Designed Next-generation Sequencing-based Gene Panel. (June 2018) Authors: Dilliott, Allison A.; Farhan, Sali M.; McIntyre, Adam A.; Robinson, John F.; Kwan, Donna; Swartz, Rick; Hassan, Ayman; Dowlatshahi, Dar; Sahlas, Demetrios; Saposnik, Gustavo; Mandzia, Jennifer; Casaubon, Leanne; Strong, Michael J.; Masellis, Mario; Bulman, Dennis E.; Rogaeva, Ekaterina; Hegele, R... Journal: Atherosclerosis Issue: Volume 32(2018) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. Issue 1 (7th November 2016) Authors: Badalato, Lauren; Farhan, Sali M. K.; Dilliott, Allison A.; Bulman, Dennis E.; Hegele, Robert A.; Goobie, Sharan L. Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia. Issue 8 (August 2020) Authors: Dron, Jacqueline S.; Dilliott, Allison A.; Lawson, Arden; McIntyre, Adam D.; Davis, Brent D.; Wang, Jian; Cao, Henian; Movsesyan, Irina; Malloy, Mary J.; Pullinger, Clive R.; Kane, John P.; Hegele, Robert A. Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 40:Issue 8(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities. Issue 11 (23rd June 2020) Authors: Ramirez, Joel; Dilliott, Allison A.; Binns, Malcolm A.; Breen, David P.; Evans, Emily C.; Beaton, Derek; McLaughlin, Paula M.; Kwan, Donna; Holmes, Melissa F.; Ozzoude, Miracle; Scott, Christopher J.M.; Strother, Stephen C.; Symons, Sean; Swartz, Richard H.; Grimes, David; Jog, Mandar; Masellis, ... Journal: Movement disorders Issue: Volume 35:Issue 11(2020) Page Start: 2090 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically. Issue 12 (December 2016) Authors: Wang, Jian; Dron, Jacqueline S.; Ban, Matthew R.; Robinson, John F.; McIntyre, Adam D.; Alazzam, Maher; Zhao, Pei Jun; Dilliott, Allison A.; Cao, Henian; Huff, Murray W.; Rhainds, David; Low-Kam, Cécile; Dubé, Marie-Pierre; Lettre, Guillaume; Tardif, Jean-Claude; Hegele, Robert A. Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 36:Issue 12(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Targeted copy number variant identification across the neurodegenerative disease spectrum. Issue 8 (3rd June 2022) Authors: Dilliott, Allison A.; Zhang, Kristina K.; Wang, Jian; Abrahao, Agessandro; Binns, Malcolm A.; Black, Sandra E.; Borrie, Michael; Dowlatshahi, Dar; Finger, Elizabeth; Fischer, Corinne E.; Frank, Andrew; Freedman, Morris; Grimes, David; Hassan, Ayman; Jog, Mandar; Kumar, Sanjeev; Lang, Anthony E.; ... Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 8(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗