Phenotypic heterogeneity of genomic disorders and rare copy-number variants S Girirajan, JA Rosenfeld, BP Coe, S Parikh, N Friedman, A Goldstein, ... New England Journal of Medicine 367 (14), 1321-1331, 2012 | 613 | 2012 |
Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the International Pediatric Stroke Study C Amlie-Lefond, TJ Bernard, G Sébire, NR Friedman, GL Heyer, ... Circulation 119 (10), 1417-1423, 2009 | 382 | 2009 |
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males D Del Gaudio, P Fang, F Scaglia, PA Ward, WJ Craigen, DG Glaze, ... Genetics in Medicine 8 (12), 784-792, 2006 | 299 | 2006 |
Interrater reliability of the Pediatric National Institutes of Health Stroke Scale (PedNIHSS) in a multicenter study RN Ichord, R Bastian, L Abraham, R Askalan, S Benedict, TJ Bernard, ... Stroke 42 (3), 613-617, 2011 | 197 | 2011 |
Risk of recurrent arterial ischemic stroke in childhood: a prospective international study HJ Fullerton, M Wintermark, NK Hills, MM Dowling, M Tan, MF Rafay, ... Stroke 47 (1), 53-59, 2016 | 184 | 2016 |
Arteriopathy diagnosis in childhood arterial ischemic stroke: results of the vascular effects of infection in pediatric stroke study M Wintermark, NK Hills, GA DeVeber, AJ Barkovich, MSV Elkind, K Sear, ... Stroke 45 (12), 3597-3605, 2014 | 164 | 2014 |
Emergence of the primary pediatric stroke center: impact of the thrombolysis in pediatric stroke trial TJ Bernard, MJ Rivkin, K Scholz, G deVeber, A Kirton, JC Gill, AK Chan, ... Stroke 45 (7), 2018-2023, 2014 | 130 | 2014 |
Infection, vaccination, and childhood arterial ischemic stroke: results of the VIPS study HJ Fullerton, NK Hills, MSV Elkind, MM Dowling, M Wintermark, ... Neurology 85 (17), 1459-1466, 2015 | 128 | 2015 |
Clinical and imaging characteristics of arteriopathy subtypes in children with arterial ischemic stroke: results of the VIPS study M Wintermark, NK Hills, GA DeVeber, AJ Barkovich, TJ Bernard, ... American Journal of Neuroradiology 38 (11), 2172-2179, 2017 | 113 | 2017 |
Utility of cystatin C to monitor renal function in Duchenne muscular dystrophy L Viollet, S Gailey, DJ Thornton, NR Friedman, KM Flanigan, JD Mahan, ... Muscle & Nerve: Official Journal of the American Association of …, 2009 | 99 | 2009 |
Paediatric cerebral sinovenous thrombosis: findings of the International Paediatric Stroke Study RN Ichord, SL Benedict, AK Chan, FJ Kirkham, U Nowak-Göttl Archives of disease in childhood 100 (2), 174-179, 2015 | 97 | 2015 |
Oxidative phosphorylation analysis: assessing the integrated functional activity of human skeletal muscle mitochondria—case studies MA Puchowicz, ME Varnes, BH Cohen, NR Friedman, DS Kerr, ... Mitochondrion 4 (5-6), 377-385, 2004 | 85 | 2004 |
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3 WM Chan, EI Traboulsi, B Arthur, N Friedman, C Andrews, EC Engle Journal of medical genetics 43 (3), e11-e11, 2006 | 83 | 2006 |
Metabolic myopathies: a clinical approach; part I BT Darras, NR Friedman Pediatric neurology 22 (2), 87-97, 2000 | 76 | 2000 |
Stroke in children with cardiac disease: report from the International Pediatric Stroke Study Group Symposium AJ Sinclair, CK Fox, RN Ichord, CS Almond, TJ Bernard, LA Beslow, ... Pediatric neurology 52 (1), 5-15, 2015 | 74 | 2015 |
Case series: 2q33. 1 microdeletion syndrome—further delineation of the phenotype M Balasubramanian, K Smith, L Basel-Vanagaite, MF Feingold, P Brock, ... Journal of medical genetics 48 (5), 290-298, 2011 | 69 | 2011 |
Cerebral vasculopathy in children with neurofibromatosis type 1 PS Ghosh, AD Rothner, TM Emch, NR Friedman, M Moodley Journal of Child Neurology 28 (1), 95-101, 2013 | 65 | 2013 |
Concurrent validity and reliability of retrospective scoring of the Pediatric National Institutes of Health Stroke Scale LA Beslow, SE Kasner, SE Smith, MT Mullen, MP Kirschen, RA Bastian, ... Stroke 43 (2), 341-345, 2012 | 63 | 2012 |
Focal cerebral arteriopathy of childhood: novel severity score and natural history HJ Fullerton, N Stence, NK Hills, B Jiang, C Amlie-Lefond, TJ Bernard, ... Stroke 49 (11), 2590-2596, 2018 | 61 | 2018 |
Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders SK Kang, CG Vanoye, SN Misra, DM Echevarria, JD Calhoun, ... Annals of neurology 86 (6), 899-912, 2019 | 58 | 2019 |