1. A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome. Issue 5 (3rd April 2017) Authors: Zarrei, Mehdi; Merico, Daniele; Kellam, Barbara; Engchuan, Worrawat; Scriver, Tara; Jokhan, Rikash; Wilson, Michael D.; Parr, Jeremy; Lemire, Edmond G.; Stavropoulos, Dimitri J.; Scherer, Stephen W. Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015). (July 2016) Authors: Shay, Jerry; Homma, Noriko; Zhou, Ruyun; Naseer, Muhammad; Chaudhary, Adeel; Al-Qahtani, Mohammed; Hirokawa, Nobutaka; Goudarzi, Maryam; Fornace, Albert; Baeesa, Saleh; Hussain, Deema; Bangash, Mohammed; Alghamdi, Fahad; Schulten, Hans-Juergen; Carracedo, Angel; Khan, Ishaq; Qashqari, Hanadi; Mad... Journal: BMC genomics Issue: Volume 17:Number 6(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical delineation of the PACS1‐related syndrome—Report on 19 patients. Issue 3 (3rd February 2016) Authors: Schuurs‐Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville‐Heygate, Stephanie; Hanson‐Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David; Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van der... Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 670 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. High resolution genomic analyses of a clinically defined autism spectrum disorder cohort. Issue 47 (December 2015) Authors: Tammimies, Kristiina; Fernandez, Bridget A.; Walker, Susan; Thiruvahindrapuram, Bhooma; Kaur, Gaganjot; Lionel, Anath C.; Roberts, Wendy; Weksberg, Rosanna; Howe, Jennifer L.; Uddin, Mohammed; Yuen, Ryan K.C.; Wang, Zhuozhi; Szatmari, Peter; Whitten, Kathy; Vardy, Cathy; Crosbie, Victoria; Luscom... Journal: International journal of developmental neuroscience Issue: Issue 47:Part A(2015:Dec.) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ISDN2014_0253: High resolution genomic analyses of a clinically defined autism spectrum disorder cohort. Issue 47 (5th November 2015) Authors: Tammimies, Kristiina; Fernandez, Bridget A.; Walker, Susan; Thiruvahindrapuram, Bhooma; Kaur, Gaganjot; Lionel, Anath C.; Roberts, Wendy; Weksberg, Rosanna; Howe, Jennifer L.; Uddin, Mohammed; Yuen, Ryan K.C.; Wang, Zhuozhi; Szatmari, Peter; Whitten, Kathy; Vardy, Cathy; Crosbie, Victoria; Luscom... Journal: International journal of developmental neuroscience Issue: Issue 47:Part A(2015:Dec.) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. MG-106 Global developmental delay and characteristic facial features associated with pacs1 gene mutation – report of two cases. (4th December 2015) Authors: Chad, Lauren; Chung, Brian HY; Marshall, Christian R; Merico, Daniele; Babul-Hirji, Riyana; Stavropoulos, D James; Chitayat, David Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MG-108 Agenesis of the corpus callosum and autism associated with zeb1 gene deletion – a case report. (4th December 2015) Authors: Inbar-Feigenberg, Michal; Chung, Brian HY; Marshall, Christian R; Merico, Daniele; Stavropoulos, D James; Chitayat, David 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. 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) ↗
9. 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) ↗
10. Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing. Issue 11 (17th August 2016) Authors: Naseer, Muhammad Imran; Sogaty, Sameera; Rasool, Mahmood; Chaudhary, Adeel G.; Abutalib, Yousif Ahmed; Walker, Susan; Marshall, Christian R.; Merico, Daniele; Carter, Melissa T.; Scherer, Stephen W.; Al‐Qahtani, Mohammad H.; Zarrei, Mehdi Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 3018 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗