1. A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting. Issue 2 (1st November 2022) Authors: Shepherd, William Billal; Colaiacovo, Samantha; Campbell, Craig; Saleh, Maha Journal: Clinical genetics Issue: Volume 103:Issue 2(2023) Page Start: 254 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. Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability. Issue 8 (8th August 2022) Authors: Algouneh, Arash; Caudle, Michelle; Balci, Tugce; Andrade, Andrea; Penava, Debbie; Saleh, Maha Journal: Clinical case reports 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) ↗
4. Genetic simulation for high‐stakes conversations. (7th February 2022) Authors: Saleh, Maha; Shugar, Andrea; Dodds, Alison; Bismilla, Zia Journal: Clinical teacher Issue: Volume 19:Number 3(2022) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Hiding in plain sight: Diagnosing congenital dysfibrinogenemia in a child presenting with acute myeloid leukemia. Issue 7 (6th April 2021) Authors: Kumar, Kriti; Patel, Serina; Chiang, K. Y.; Solh, Ziad; Saleh, Maha; Ernewein, Lauren; Decourcy, MaryJo; Laudenbach, Lori; Tole, Soumitra Journal: Pediatric blood & cancer Issue: Volume 68:Issue 7(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Lessons learned from a child with a chromosomal abnormality but no major congenital anomalies. Issue 3 (28th July 2020) Authors: Zhou, Shijie; Colaiacovo, Samantha; Djolovic, Andrea; Saleh, Maha Journal: Paediatrics & Child Health Issue: Volume 26:Issue 3(2021) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MG-109 A novel 0.34 MB microduplication of 9Q34.3 in a patient with congenital cardiac defects and learning disabilities. (4th December 2015) Authors: Saleh, Maha; Horsburgh, Shelly; Shago, Mary; Faghfoury, Hanna Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A2 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Nonisolated diaphragmatic hernia in Simpson‐Golabi‐Behmel syndrome. (24th January 2018) Authors: Chong, Karen; Saleh, Maha; Injeyan, Marie; Miron, Ioana; Fong, Katherine; Shannon, Patrick Journal: Prenatal diagnosis Issue: Volume 38:Number 2(2018) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. OTX2 mutation associated with severe myopia in a Canadian family. (4th May 2022) Authors: Wangding, Snow; Colaiacovo, Samantha; Makar, Inas; Saleh, Maha Journal: Ophthalmic genetics Issue: Volume 43:Number 3(2022) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure. Issue 6 (14th February 2023) Authors: Kowalczyk, Alexandra; Chopra, Yogi Raj; Saleh, Maha; Colaiacovo, Samantha; Dror, Yigal; Leppington, Sarah; Tole, Soumitra Journal: Pediatric blood & cancer Issue: Volume 70:Issue 6(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗