1. BCAP31‐associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy. Issue 6 (23rd March 2017) Authors: Albanyan, Saleh; Al Teneiji, Amal; Monfared, Nasim; Mercimek‐Mahmutoglu, Saadet Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1640 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. (December 2017) Authors: Hayeems, Robin; Bhawra, Jasmin; Tsiplova, Kate; Meyn, M.; Monfared, Nasim; Bowdin, Sarah; Stavropoulos, D.; Marshall, Christian; Basran, Raveen; Shuman, Cheryl; Ito, Shinya; Cohn, Iris; Hum, Courtney; Girdea, Marta; Brudno, Michael; Cohn, Ronald; Scherer, Stephen; Ungar, Wendy Journal: European journal of human genetics Issue: Volume 25:Number 12(2017) Page Start: 1303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MED23‐associated refractory epilepsy successfully treated with the ketogenic diet. Issue 9 (17th June 2016) Authors: Lionel, Anath C.; Monfared, Nasim; Scherer, Stephen W.; Marshall, Christian R.; Mercimek‐Mahmutoglu, Saadet Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. MG-108 Beyond the ACMG 56: Parental choices and initial results from a comprehensive whole genome sequencing-based search for predictive genomic variants in children. (4th December 2015) Authors: Meyn, MStephen; Monfared, Nasim; Marshall, Christian R; Merico, Daniele; Stavropoulos, Dimitri J; Hayeems, Robin Z; Szego, Michael; Jobling, Rebekah; Girdea, Marta; Bader, Gary D; Brudno, Michael; Cohn, Ronald D; Scherer, Stephen W; Shaul, Randi Zlotnik; Shuman, Cheryl; Ray, Peter N; Bowdin, Sarah Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine. (4th December 2015) Authors: Marshall, Christian R; Stavropoulos, Dimitri J; Jobling, Rebekah; Merico, Daniele; Bowdin, Sarah; Monfared, Nasim; Meyn, MStephen; Szego, Michael; Shaul, Randi Zlotnik; Thiruvahindrapuram, Bhooma; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Brudno, Michael; Girdea, Marta; Hayeems, Robin Z; Care... Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A12 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗