| Whole exome sequencing in patients with white matter abnormalities A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ... Annals of neurology 79 (6), 1031-1037, 2016 | 148 | 2016 |
| SCN8A encephalopathy: Research progress and prospects MH Meisler, G Helman, MF Hammer, BE Fureman, WD Gaillard, ... Epilepsia 57 (7), 1027-1035, 2016 | 127 | 2016 |
| Diffuse hypomyelination is not obligate for POLR3-related disorders R La Piana, FK Cayami, LT Tran, K Guerrero, R van Spaendonk, K Õunap, ... Neurology 86 (17), 1622-1626, 2016 | 69 | 2016 |
| Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression E Giorgio, H Rolyan, L Kropp, AB Chakka, S Yatsenko, ED Gregorio, ... Human mutation 34 (8), 1160-1171, 2013 | 51 | 2013 |
| Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy G Helman, L Caldovic, MT Whitehead, C Simons, K Brockmann, ... Annals of neurology 79 (3), 379-386, 2016 | 44 | 2016 |
| CSF and blood levels of GFAP in Alexander disease PL Jany, GE Agosta, WS Benko, JC Eickhoff, SR Keller, W Köehler, ... Eneuro 2 (5), 2015 | 31 | 2015 |
| ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells E Cuadrado, T Booiman, JL Van Hamme, MH Jansen, KA Van Dort, ... PloS one 10 (12), e0143613, 2015 | 24 | 2015 |
| Emerging treatments for pediatric leukodystrophies G Helman, K Van Haren, ML Escolar, A Vanderver Pediatric Clinics 62 (3), 649-666, 2015 | 17 | 2015 |
| Autosomal dominant leukodystrophy with autonomic disease N Nahhas, P Sabet Rasekh, A Vanderver, Q Padiath GeneReviews (R). Seattle, WA: University of Washington, 1993 | 15 | 1993 |
| Craniosynostosis BS Carson by Taylor & Francis Group, LLC, 2005 | 13 | 2005 |
| Targeted leukodystrophy diagnosis based on charges and yields for testing J Richards, EK Korgenski, RJ Taft, A Vanderver, JL Bonkowsky American Journal of Medical Genetics Part A 167 (11), 2541-2543, 2015 | 12 | 2015 |
| Mutations in CNTNAP1 cause severe arthrogryposis multiplex congenita with distinct neuroradiologic features A Pizzino, J Murphy, M Bloom, S Evans, G Helman, R Taft, C Simons, ... Annals of Neurology 76 (S18), S193-S193, 2014 | 2 | 2014 |
| Characteristic brain magnetic resonance imaging pattern in pten associated disorders D Tonduti, I Kahn, J Schmidt, AT Waldman, L Medne, J Martin, ... Annals of Neurology 72, S205-S205, 2012 | 1 | 2012 |
| P. 003 Health-related quality of life (HRQOL) for genetically determined leukoencephalopathy patients and their families A Mirchi, F Pelletier, LT Tran, A Pizzino, M Dilenge, N Braverman, ... Canadian Journal of Neurological Sciences 43 (S2), S22-S22, 2016 | | 2016 |
| Intrathecal Interferon Signaling Genes Expression in Leukodystrophies with Calcifying Microangiopathy on Neuropathology (P5. 149) G Helman, S Brooks, H Gordish-Dressman, A Takanohashi, B Harmon, ... Neurology 86 (16_supplement), P5. 149, 2016 | | 2016 |
| Session 1: Epilepsy Oral Presentations Wednesday 27 January 2016 11.00–12.15 A Vanderver, M Prust, D Tonduti | | 2016 |
| Leukoencephalopathy with Temporal Lobe Cysts and Hearing Loss, Caused by RMND1 Mutations NC Ulrick, A Goldstein, C Simons, RJ Taft, GT Helman, J Vogt, K Pysden, ... ANNALS OF NEUROLOGY 78, S199-S199, 2015 | | 2015 |
| Cytokine Profile Comparison of Monogenic and Complex Conditions with Interferon-Regulated Gene Signatures in Chronic Atypical Neutrophilic Dermatosis with Lipodsytrophy and … H Kim, Y Liu, AA de Jesus, R Wesley, Y Huang, GAM Sanchez, ... ARTHRITIS & RHEUMATOLOGY 67, 2015 | | 2015 |
| Intrathecal Interferon Signaling Genes Expression in Aicardi Goutieres Syndrome GT Helman, H Gordish-Dressman, A Takanohashi, B Harmon, YJ Crow, ... ANNALS OF NEUROLOGY 78, S201-S201, 2015 | | 2015 |
| Overexpressed Nucleic Acid in Aicardi-Goutières Syndrome Patient Fibroblasts (S52. 004) A Vanderver, A Takanohashi, G Helman, JY Kang, A Dahal, R Taft, ... Neurology 84 (14_supplement), S52. 004, 2015 | | 2015 |
