| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 559 | 2015 |
| Case definition and classification of leukodystrophies and leukoencephalopathies A Vanderver, M Prust, D Tonduti, F Mochel, HM Hussey, G Helman, ... Molecular genetics and metabolism 114 (4), 494-500, 2015 | 238 | 2015 |
| A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies S Parikh, G Bernard, RJ Leventer, MS van der Knaap, J van Hove, ... Molecular genetics and metabolism 114 (4), 501-515, 2015 | 197 | 2015 |
| 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 | 147 | 2016 |
| SCN8A encephalopathy: Research progress and prospects MH Meisler, G Helman, MF Hammer, BE Fureman, WD Gaillard, ... Epilepsia 57 (7), 1027-1035, 2016 | 124 | 2016 |
| Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect C Simons, LB Griffin, G Helman, G Golas, A Pizzino, M Bloom, ... The American Journal of Human Genetics 96 (4), 675-681, 2015 | 124 | 2015 |
| Janus kinase inhibition in the Aicardi–Goutières syndrome A Vanderver, L Adang, F Gavazzi, K McDonald, G Helman, DB Frank, ... New England Journal of Medicine 383 (10), 986-989, 2020 | 120 | 2020 |
| Update on leukodystrophies: a historical perspective and adapted definition SH Kevelam, ME Steenweg, S Srivastava, G Helman, S Naidu, ... Neuropediatrics 47 (06), 349-354, 2016 | 110 | 2016 |
| Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome R La Piana, C Uggetti, F Roncarolo, A Vanderver, I Olivieri, D Tonduti, ... Neurology 86 (1), 28-35, 2016 | 73 | 2016 |
| A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy C Simons, D Dyment, SJ Bent, J Crawford, M D’Hooghe, A Kohlschütter, ... Brain 140 (12), 3105-3111, 2017 | 66 | 2017 |
| Disease specific therapies in leukodystrophies and leukoencephalopathies G Helman, K Van Haren, JL Bonkowsky, G Bernard, A Pizzino, ... Molecular genetics and metabolism 114 (4), 527-536, 2015 | 62 | 2015 |
| TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes J Curiel, G Rodríguez Bey, A Takanohashi, M Bugiani, X Fu, NI Wolf, ... Human molecular genetics 26 (22), 4506-4518, 2017 | 60 | 2017 |
| TUBB4A de novo mutations cause isolated hypomyelination A Pizzino, TM Pierson, Y Guo, G Helman, S Fortini, K Guerrero, S Saitta, ... Neurology 83 (10), 898-902, 2014 | 59 | 2014 |
| Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy H Yan, G Helman, SE Murthy, H Ji, J Crawford, T Kubisiak, SJ Bent, J Xiao, ... The American Journal of Human Genetics 105 (5), 996-1004, 2019 | 52 | 2019 |
| Early-onset Aicardi-Goutieres syndrome: magnetic resonance imaging (MRI) pattern recognition A Vanderver, M Prust, N Kadom, S Demarest, YJ Crow, G Helman, ... Journal of child neurology 30 (10), 1343-1348, 2015 | 48 | 2015 |
| Consensus statement on preventive and symptomatic care of leukodystrophy patients K Van Haren, JL Bonkowsky, G Bernard, JL Murphy, A Pizzino, G Helman, ... Molecular genetics and metabolism 114 (4), 516-526, 2015 | 48 | 2015 |
| Neonatal detection of Aicardi Goutières syndrome by increased C26: 0 lysophosphatidylcholine and interferon signature on newborn screening blood spots T Armangue, JJ Orsini, A Takanohashi, F Gavazzi, A Conant, N Ulrick, ... Molecular genetics and metabolism 122 (3), 134-139, 2017 | 45 | 2017 |
| 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 |
| Aicardi goutières syndrome is associated with pulmonary hypertension LA Adang, DB Frank, A Gilani, A Takanohashi, N Ulrick, A Collins, Z Cross, ... Molecular genetics and metabolism 125 (4), 351-358, 2018 | 40 | 2018 |
| The urea cycle disorders G Helman, I Pacheco-Colón, AL Gropman Seminars in neurology 34 (03), 341-349, 2014 | 36 | 2014 |
