1. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Issue 11 (13th August 2014) Authors: Srivastava, Siddharth; Cohen, Julie; Pevsner, Jonathan; Aradhya, Swaroop; McKnight, Dianalee; Butler, Elizabeth; Johnston, Michael; Fatemi, Ali Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2914 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Current knowledge of SLC6A1-related neurodevelopmental disorders. Issue 2 (13th October 2020) Authors: Goodspeed, Kimberly; Pérez-Palma, Eduardo; Iqbal, Sumaiya; Cooper, Dominique; Scimemi, Annalisa; Johannesen, Katrine M; Stefanski, Arthur; Demarest, Scott; Helbig, Katherine L; Kang, Jingqiong; Shaffo, Frances C; Prentice, Brandon; Brownstein, Catherine A; Lim, Byungchan; Helbig, Ingo; De Los Rey... Journal: Brain communications Issue: Volume 2:Issue 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Issue 6 (1st May 2015) Authors: Esmaeeli Nieh, Sahar; Madou, Maura R. Z.; Sirajuddin, Minhajuddin; Fregeau, Brieana; McKnight, Dianalee; Lexa, Katrina; Strober, Jonathan; Spaeth, Christine; Hallinan, Barbara E.; Smaoui, Nizar; Pappas, John G.; Burrow, Thomas A.; McDonald, Marie T.; Latibashvili, Mariam; Leshinsky‐Silver, Esther... Journal: Annals of clinical and translational neurology Issue: Volume 2:Issue 6(2015:Jun.) Page Start: 623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. (3rd April 2017) Authors: Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay; Decker, Amy; Picker, Jonathan D.; Lincoln, Sharyn; Sweetser, David A.; Briere, Lauren C.; Harini, Chellamani; Marsh, Eric; Medne, Livija; Wang, Raymond Y.; Leydiker, Karen; Mower, Andrew; Visser, Gepke; Cuppen, Inge; van Gassen, Koen L.; van der ... Journal: Journal of neurogenetics Issue: Volume 31:Number 1/2(2017) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing. (May 2015) Authors: Zarate, Yuri A.; Perry, Hazel; Ben‐Omran, Tawfeg; Sellars, Elizabeth A.; Stein, Quinn; Almureikhi, Mariam; Simmons, Kirk; Klein, Ophir; Fish, Jennifer; Feingold, Murray; Douglas, Jessica; Kruer, Michael C.; Si, Yue; Mao, Rong; McKnight, Dianalee; Gibellini, Federica; Retterer, Kyle; Slavotinek, Anne Journal: American journal of medical genetics Issue: Volume 167:Number 5(2015:May) Page Start: 1026 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Issue 7 (4th April 2017) Authors: Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter;... Journal: Journal of medical genetics Issue: Volume 54:Issue 7(2017) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect. Issue 5 (8th November 2018) Authors: Metz, Kyle A.; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M.; Wagner, Bart E.; Rosenfeld, Jill A.; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E.; Wang, Tim Sen; Haberlandt, Edda D.; Anderson, Glenn W.; Leshinsky‐Silver, Esther; Bi, Weimin; Markello, Thomas C.; Pratt, Marsha; M... Journal: Annals of neurology Issue: Volume 84:Issue 5(2018) Page Start: 766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings. (16th February 2022) Authors: McKnight, Dianalee; Bristow, Sara L.; Truty, Rebecca M.; Morales, Ana; Stetler, Molly; Westbrook, M. Jody; Robinson, Kristina; Riethmaier, Darlene; Borlot, Felippe; Kellogg, Marissa; Hwang, Sean T.; Berg, Anne; Aradhya, Swaroop Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings. (16th February 2022) Authors: McKnight, Dianalee; Bristow, Sara L.; Truty, Rebecca M.; Morales, Ana; Stetler, Molly; Westbrook, M. Jody; Robinson, Kristina; Riethmaier, Darlene; Borlot, Felippe; Kellogg, Marissa; Hwang, Sean T.; Berg, Anne; Aradhya, Swaroop Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings. (February 2022) Authors: McKnight, Dianalee; Bristow, Sara L.; Truty, Rebecca M.; Morales, Ana; Stetler, Molly; Westbrook, M. Jody; Robinson, Kristina; Riethmaier, Darlene; Borlot, Felippe; Kellogg, Marissa; Hwang, Sean T.; Berg, Anne; Aradhya, Swaroop Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗