1. Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Issue 6 (26th April 2019) Authors: Stergachis, Andrew B.; Pujol‐Giménez, Jonai; Gyimesi, Gergely; Fuster, Daniel; Albano, Giusppe; Troxler, Marina; Picker, Jonathan; Rosenberg, Paul A.; Bergin, Ann; Peters, Jurriaan; El Achkar, Christelle Moufawad; Harini, Chellamani; Manzi, Shannon; Rotenberg, Alexander; Hediger, Matthias A.; Rod... Journal: Annals of neurology Issue: Volume 85:Issue 6(2019) Page Start: 921 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Response to: Toriello et al., "Update on the Toriello–Carey Syndrome." Further delineation of a young woman with deletion 1q42.12‐q42.2. Issue 7 (26th April 2017) Authors: Garza‐Flores, Alexandra; Hawley, Pamela; Picker, Jonathan; Tannebring, Elizabeth; Deardorff, Matthew A.; Lin, Angela E. Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1988 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Fluvoxamine for the treatment of COVID-19. Issue 3 (March 2022) Authors: Kim, Hyun; Manzi, Shannon; Gonzelez-Heydrich, Joseph; Picker, Jonathan Journal: Lancet Issue: Volume 10:Issue 3(2022) Page Start: e330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort. Issue 6 (5th May 2021) Authors: Liu, Liying; Liu, Fang; Wang, Qiuhong; Xie, Hua; Li, Zhengchang; Lu, Qian; Wang, Yangyang; Zhang, Mengna; Zhang, Yu; Picker, Jonathan; Cui, Xiaodai; Zou, Liping; Chen, Xiaoli Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 6(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Issue 3 (11th January 2021) Authors: Jung, Roy; Lee, Yejin; Barker, Douglas; Correia, Kevin; Shin, Baehyun; Loupe, Jacob; Collins, Ryan L; Lucente, Diane; Ruliera, Jayla; Gillis, Tammy; Mysore, Jayalakshmi S; Rodan, Lance; Picker, Jonathan; Lee, Jong-Min; Howland, David; Lee, Ramee; Kwak, Seung; MacDonald, Marcy E; Gusella, James F;... Journal: Human molecular genetics Issue: Volume 30:Issue 3/4(2021) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. Issue 4 (13th February 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome. Issue 38 (9th July 2014) Authors: Heard, Takijah T.; Ramgopal, Sriram; Picker, Jonathan; Lincoln, Sharyn A.; Rotenberg, Alexander; Kothare, Sanjeev V. Journal: International journal of developmental neuroscience Issue: Issue 38(2014:Nov.) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. BRAT1 mutations present with a spectrum of clinical severity. Issue 9 (9th June 2016) Authors: Srivastava, Siddharth; Olson, Heather E.; Cohen, Julie S.; Gubbels, Cynthia S.; Lincoln, Sharyn; Davis, Brigette Tippin; Shahmirzadi, Layla; Gupta, Siddharth; Picker, Jonathan; Yu, Timothy W.; Miller, David T.; Soul, Janet S.; Poretti, Andrea; Naidu, SakkuBai Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. (2nd August 2018) Authors: Whitley, Brittany N; Lam, Christina; Cui, Hong; Haude, Katrina; Bai, Renkui; Escobar, Luis; Hamilton, Afifa; Brady, Lauren; Tarnopolsky, Mark A; Dengle, Lauren; Picker, Jonathan; Lincoln, Sharyn; Lackner, Laura L; Glass, Ian A; Hoppins, Suzanne Journal: Human molecular genetics Issue: Volume 27:Number 21(2018:Nov. 01) Page Start: 3710 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗