1. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. (June 2017) Authors: Alber, Michael; Kalscheuer, Vera M.; Marco, Elysa; Sherr, Elliott; Lesca, Gaetan; Till, Marianne; Gradek, Gyri; Wiesener, Antje; Korenke, Christoph; Mercier, Sandra; Becker, Felicitas; Yamamoto, Toshiyuki; Scherer, Stephen W.; Marshall, Christian R.; Walker, Susan; Dutta, Usha R.; Dalal, Ashwin B... Journal: Neurology Issue: Volume 3:Number 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Issue 2 (1st July 2015) Authors: Epilepsy Phenome/Genome Project & Epi4K Consortium; Allen, Andrew S.; Berkovic, Samuel F.; Coe, Bradley P.; Cook, Joseph; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E.; Epstein, Michael P.; Glauser, Tracy; Goldstein, David B.; Heinzen, Erin L.; Johnson, Michael R.; Krum... Journal: Annals of neurology Issue: Volume 78:Issue 2(2015:Aug.) Page Start: 323 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Issue 7 (28th July 2021) Authors: Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie;... Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders. Issue 2 (9th June 2020) Authors: Vanderver, Adeline; Bernard, Geneviève; Helman, Guy; Sherbini, Omar; Boeck, Ryan; Cohn, Jeffrey; Collins, Abigail; Demarest, Scott; Dobbins, Katherine; Emrick, Lisa; Fraser, Jamie L.; Masser‐Frye, Diane; Hayward, Jean; Karmarkar, Swati; Keller, Stephanie; Mirrop, Samuel; Mitchell, Wendy; Pathak, ... Journal: Annals of neurology Issue: Volume 88:Issue 2(2020) Page Start: 264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Issue 7 (2nd May 2016) Authors: Millan, Francisca; Cho, Megan T.; Retterer, Kyle; Monaghan, Kristin G.; Bai, Renkui; Vitazka, Patrik; Everman, David B.; Smith, Brooke; Angle, Brad; Roberts, Victoria; Immken, LaDonna; Nagakura, Honey; DiFazio, Marc; Sherr, Elliott; Haverfield, Eden; Friedman, Bethany; Telegrafi, Aida; Juusola, J... Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗