1. "A change in perspective": Exploring the experiences of adolescents with hereditary tumor predisposition. Issue 1 (11th September 2018) Authors: Weber, Evan; Shuman, Cheryl; Wasserman, Jonathan D.; Barrera, Maru; Patenaude, Andrea F.; Fung, Karen; Chitayat, David; Malkin, David; Druker, Harriet Journal: Pediatric blood & cancer Issue: Volume 66:Issue 1(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate. Issue 3 (3rd August 2020) Authors: Deshwar, Ashish R.; Martin, Nicole; Shannon, Patrick; Chitayat, David Journal: Clinical genetics Issue: Volume 98:Issue 3(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. Issue 4 (October 2016) Authors: Xiong, Shiyi; Chitayat, David; Wei, Xing; Zhu, Jialiang; Lu, Wen; Sun, Lu ming; Chopra, Maya Journal: Clinical dysmorphology Issue: Volume 25:Issue 4(2016:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome. (27th December 2018) Authors: Kinnear, Caroline; Haranal, Maruti; Shannon, Patrick; Jaeggi, Edgar; Chitayat, David; Mital, Seema Journal: Prenatal diagnosis Issue: Volume 39:Number 1(2019) Page Start: 38 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. Issue 9 (25th July 2017) Authors: Chaudhry, Ayeshah; Chung, Brian H.; Stavropoulos, Dimitri J.; Araya, Marcela P.; Ali, Asim; Heon, Elise; Chitayat, David Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2467 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. Issue 7 (9th May 2019) Authors: Bourque, Danielle K.; Fonseca, Inara Chacon; Staines, Andrea; Teitelbaum, Ronni; Axford, Michelle M.; Jobling, Rebekah; Chiasson, David; Chitayat, David Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1325 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (). Issue 9 (2nd August 2018) Authors: Chitayat, David; Shannon, Patrick; Uster, Tami; Nezarati, Marjan M.; Schnur, Rhonda E.; Bhoj, Elizabeth J. Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (2018). Issue 9 (2nd August 2018) Authors: Chitayat, David; Shannon, Patrick; Uster, Tami; Nezarati, Marjan M.; Schnur, Rhonda E.; Bhoj, Elizabeth J. Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Brain and Placental Pathology in Fetal COL4A1 Related Disease. (June 2021) Authors: Shannon, Patrick; Hum, Courtney; Parks, Tony; Schauer, GM; Chitayat, David; Chong, Karen; Shinar, Shiri; Blaser, Susan; Moore, Gaea; Van Mieghem, Tim Journal: Pediatric and developmental pathology Issue: Volume 24:Number 3(2021) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗