1. 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) ↗
2. 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) ↗
3. 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) ↗
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. 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) ↗
6. 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) ↗
7. 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) ↗
8. 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) ↗
9. 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) ↗
10. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Issue 5 (16th February 2016) Authors: Brownstein, Catherine A.; Kleiman, Robin J.; Engle, Elizabeth C.; Towne, Meghan C.; D'Angelo, Eugene J.; Yu, Timothy W.; Beggs, Alan H.; Picker, Jonathan; Fogler, Jason M.; Carroll, Devon; Schmitt, Rachel C. O.; Wolff, Robert R.; Shen, Yiping; Lip, Va; Bilguvar, Kaya; Kim, April; Tembulkar, Sahil... Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗