1. A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge–Weber syndrome. Issue 21 (14th June 2021) Authors: Fjær, Roar; Marciniak, Katarzyna; Sundnes, Olav; Hjorthaug, Hanne; Sheng, Ying; Hammarström, Clara; Sitek, Jan Cezary; Vigeland, Magnus Dehli; Backe, Paul Hoff; Øye, Ane-Marte; Fosse, Johanna Hol; Stav-Noraas, Tor Espen; Uchiyama, Yuri; Matsumoto, Naomichi; Comi, Anne; Pevsner, Jonathan; Haraldse... Journal: Human molecular genetics Issue: Volume 30:Issue 21(2021) Page Start: 1919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. Issue 9 (26th June 2017) Authors: Theisen, Benjamin E.; Rumyantseva, Anastasia; Cohen, Julie S.; Alcaraz, Wendy A.; Shinde, Deepali N.; Tang, Sha; Srivastava, Siddarth; Pevsner, Jonathan; Trifunovic, Aleksandra; Fatemi, Ali Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dysfunction of mitochondria and GABAergic interneurons in the anterior cingulate cortex of individuals with schizophrenia. (December 2022) Authors: Kondo, Mari A.; Norris, Alexis L.; Yang, Kun; Cheshire, Madeline; Newkirk, Isabelle; Chen, Xiangning; Ishizuka, Koko; Jaffe, Andrew E.; Sawa, Akira; Pevsner, Jonathan Journal: Neuroscience research Issue: Volume 185(2022) Page Start: 67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels. Issue 1 (21st October 2021) Authors: Huang, Lan; Bichsel, Colette; Norris, Alexis L.; Thorpe, Jeremy; Pevsner, Jonathan; Alexandrescu, Sanda; Pinto, Anna; Zurakowski, David; Kleiman, Robin J.; Sahin, Mustafa; Greene, Arin K.; Bischoff, Joyce Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 42:Issue 1(2022) Page Start: e27 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels. Issue 1 (January 2022) Authors: Huang, Lan; Bichsel, Colette; Norris, Alexis L.; Thorpe, Jeremy; Pevsner, Jonathan; Alexandrescu, Sanda; Pinto, Anna; Zurakowski, David; Kleiman, Robin J.; Sahin, Mustafa; Greene, Arin K.; Bischoff, Joyce Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 42:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Leonardo da Vinci's studies of the brain. Issue 10179 (6th April 2019) Authors: Pevsner, Jonathan Journal: Lancet Issue: Volume 393:Issue 10179(2019) Page Start: 1465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. O2.3. INCREASED PROTEIN INSOLUBILITY IN BRAINS FROM A SUBSET OF PATIENTS WITH SCHIZOPHRENIA. (9th April 2019) Authors: Nucifora, Leslie; MacDonald, Matthew; Lee, Brian; Peters, Matthew; Norris, Alexis; Orsburn, Benjamin Orsburn; Gleason, Kelly; Yang, Kun; Margolis, Russell; Pevsner, Jonathan; Tamminga, Carol; Sweet, Robert; Ross, Christopher; Sawa, Akira; Nucifora, Frederick Journal: Schizophrenia bulletin Issue: Volume 45(2019)Supplement 2 Page Start: S163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The case for open science: rare diseases. Issue 3 (11th September 2020) Authors: Rubinstein, Yaffa R; Robinson, Peter N; Gahl, William A; Avillach, Paul; Baynam, Gareth; Cederroth, Helene; Goodwin, Rebecca M; Groft, Stephen C; Hansson, Mats G; Harris, Nomi L; Huser, Vojtech; Mascalzoni, Deborah; McMurry, Julie A; Might, Matthew; Nellaker, Christoffer; Mons, Barend; Paltoo, Di... Journal: JAMIA open Issue: Volume 3:Issue 3(2020) Page Start: 472 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗