1. A Case of Infant-Type Hemispheric Glioma with NTRK1 Fusion. (December 2022) Authors: Garcia, Mekka R.; Bell, Lena; Miller, Claire; Segal, Devorah Journal: Child neurology open Issue: Volume 9(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. (9th January 2020) Authors: Behne, Robert; Teinert, Julian; Wimmer, Miriam; D'Amore, Angelica; Davies, Alexandra K; Scarrott, Joseph M; Eberhardt, Kathrin; Brechmann, Barbara; Chen, Ivy Pin-Fang; Buttermore, Elizabeth D; Barrett, Lee; Dwyer, Sean; Chen, Teresa; Hirst, Jennifer; Wiesener, Antje; Segal, Devorah; Martinuzzi, A... Journal: Human molecular genetics Issue: Volume 29:Number 2(2020) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bilateral Optic Disc Edema in Multisystem Inflammatory Syndrome in Children Associated With COVID-19. Issue 1 (17th March 2022) Authors: Dinkin, Marc; Segal, Devorah; Zyskind, Israel; Oliveira, Cristiano; Liu, Grace Editors: Avery, Robert; Golnik, Karl C.; Froment, Caroline; Wang, An-Gour Journal: Journal of neuro-ophthalmology Issue: Volume 42:Issue 1(2022) Page Start: e318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Bilateral Optic Disc Edema in Multisystem Inflammatory Syndrome in Children Associated With COVID-19. Issue 1 (March 2022) Authors: Dinkin, Marc; Segal, Devorah; Zyskind, Israel; Oliveira, Cristiano; Liu, Grace Other Names: Avery Robert section editor.; Golnik Karl C. section editor.; Froment Caroline section editor.; Wang An-Gour section editor. Journal: Journal of neuro-ophthalmology 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) ↗
5. Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression. Issue 3 (14th February 2017) Authors: Olson, Heather E.; Kelly, McKenna; LaCoursiere, Christopher M.; Pinsky, Rebecca; Tambunan, Dimira; Shain, Catherine; Ramgopal, Sriram; Takeoka, Masanori; Libenson, Mark H.; Julich, Kristina; Loddenkemper, Tobias; Marsh, Eric D.; Segal, Devorah; Koh, Susan; Salman, Michael S.; Paciorkowski, Alex R... Journal: Annals of neurology Issue: Volume 81:Issue 3(2017) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (15th December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Issue 7 (24th April 2019) Authors: Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein... Journal: Human mutation Issue: Volume 40:Issue 7(2019) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The promise of molecular profiling of choroid plexus tumors for diagnostic and prognostic stratification: where to go from here?. Issue 6 (22nd March 2016) Authors: Segal, Devorah; Karajannis, Matthias A. Journal: Neuro-oncology Issue: Volume 18:Issue 6(2016:Jun.) Page Start: 757 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Use of Head Computed Tomography (CT) in the Pediatric Emergency Department in Evaluation of Children With New-Onset Afebrile Seizure. (October 2018) Authors: Veerapandiyan, Aravindhan; Aravindhan, Akilandeswari; Takahashi, James Huynh; Segal, Devorah; Pecor, Keith; Ming, Xue Journal: Journal of child neurology Issue: Volume 33:Number 11(2018:Nov.) Page Start: 708 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗