1. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Issue 4 (30th January 2022) Authors: Gofin, Yoel; Wang, Tianyun; Gillentine, Madelyn A.; Scott, Tiana M.; Berry, Aliska M.; Azamian, Mahshid S.; Genetti, Casie; Agrawal, Pankaj B.; Picker, Jonathan; Wojcik, Monica H.; Delgado, Mauricio R.; Lynch, Sally A.; Scherer, Stephen W.; Howe, Jennifer L.; Bacino, Carlos A.; DiTroia, Stephanie... Journal: Human mutation Issue: Volume 43:Issue 4(2022) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗
4. Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees. Issue 5 (6th May 2020) Authors: Woodbury‐Smith, Marc; Zarrei, Mehdi; Wei, John; Thiruvahindrapuram, Bhooma; O'Connor, Irene; Paterson, Andrew D.; Yuen, Ryan K. C.; Dastan, Jila; Stavropoulos, Dimitri J.; Howe, Jennifer L.; Thompson, Ann; Parlier, Morgan; Fernandez, Bridget; Piven, Joseph; Anagnostou, Evdokia; Scherer, Stephen W... Journal: American journal of medical genetics Issue: Volume 183:Issue 5(2020) Page Start: 268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗