| A copy number variation morbidity map of developmental delay GM Cooper, BP Coe, S Girirajan, JA Rosenfeld, TH Vu, C Baker, ... Nature genetics 43 (9), 838-846, 2011 | 1436 | 2011 |
| Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial CM McDonald, C Campbell, RE Torricelli, RS Finkel, KM Flanigan, ... The Lancet 390 (10101), 1489-1498, 2017 | 450 | 2017 |
| Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study CM McDonald, EK Henricson, RT Abresch, T Duong, NC Joyce, F Hu, ... The Lancet 391 (10119), 451-461, 2018 | 427 | 2018 |
| Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study L Bello, H Gordish-Dressman, LP Morgenroth, EK Henricson, T Duong, ... Neurology 85 (12), 1048-1055, 2015 | 207 | 2015 |
| Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome RA Maselli, JJ Ng, JA Anderson, O Cagney, J Arredondo, C Williams, ... Journal of medical genetics 46 (3), 203-208, 2009 | 130 | 2009 |
| Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: long-term natural history with and without glucocorticoids CM McDonald, H Gordish-Dressman, EK Henricson, T Duong, NC Joyce, ... Neuromuscular Disorders 28 (11), 897-909, 2018 | 96 | 2018 |
| Genotype–phenotype analysis of 4q deletion syndrome: proposal of a critical region EM Strehle, L Yu, JA Rosenfeld, S Donkervoort, Y Zhou, TJ Chen, ... American journal of medical genetics Part A 158 (9), 2139-2151, 2012 | 87 | 2012 |
| A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy RG Victor, HL Sweeney, R Finkel, CM McDonald, B Byrne, M Eagle, ... Neurology 89 (17), 1811-1820, 2017 | 78 | 2017 |
| Twenty‐year follow‐up of newborn screening for patients with muscular dystrophy J Chung, AL Smith, SC Hughes, G Niizawa, HZ Abdel‐Hamid, EW Naylor, ... Muscle & nerve 53 (4), 570-578, 2016 | 75 | 2016 |
| Severe hydroxychloroquine myopathy H Abdel‐Hamid, CV Oddis, D Lacomis Muscle & Nerve: Official Journal of the American Association of …, 2008 | 73 | 2008 |
| Association study of exon variants in the NF-κB and TGFβ pathways identifies CD40 as a modifier of Duchenne muscular dystrophy L Bello, KM Flanigan, RB Weiss, DM Dunn, KJ Swoboda, E Gappmaier, ... The American Journal of Human Genetics 99 (5), 1163-1171, 2016 | 70 | 2016 |
| Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy MW Hogarth, PJ Houweling, KC Thomas, H Gordish-Dressman, L Bello, ... Nature communications 8 (1), 14143, 2017 | 69 | 2017 |
| Open-label evaluation of eteplirsen in patients with Duchenne muscular dystrophy amenable to exon 51 skipping: PROMOVI trial CM McDonald, PB Shieh, HZ Abdel-Hamid, AM Connolly, E Ciafaloni, ... Journal of neuromuscular diseases 8 (6), 989-1001, 2021 | 67 | 2021 |
| Neurologic manifestations of transplant complications SA Živković, H Abdel-Hamid Neurologic clinics 28 (1), 235-251, 2010 | 49 | 2010 |
| Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy KR Wagner, HZ Abdel-Hamid, JK Mah, C Campbell, M Guglieri, F Muntoni, ... Neuromuscular Disorders 30 (6), 492-502, 2020 | 46 | 2020 |
| Efficacy and safety of vamorolone in Duchenne muscular dystrophy: a 30-month nonrandomized controlled open-label extension trial JK Mah, PR Clemens, M Guglieri, EC Smith, RS Finkel, M Tulinius, ... JAMA network open 5 (1), e2144178-e2144178, 2022 | 45 | 2022 |
| Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy MF Wood, SC Hughes, LP Hache, EW Naylor, HZ Abdel‐Hamid, ... Muscle & Nerve 49 (6), 822-828, 2014 | 42 | 2014 |
| Combination therapy with nusinersen and AVXS-101 in SMA type 1 BH Lee, E Collins, L Lewis, D Guntrum, K Eichinger, K Voter, ... Neurology 93 (14), 640-641, 2019 | 39 | 2019 |
| Pentoxifylline as a rescue treatment for DMD: a randomized double-blind clinical trial DM Escolar, A Zimmerman, T Bertorini, PR Clemens, AM Connolly, ... Neurology 78 (12), 904-913, 2012 | 36 | 2012 |
| A combined prospective and retrospective comparison of long-term functional outcomes suggests delayed loss of ambulation and pulmonary decline with long-term eteplirsen treatment O Mitelman, HZ Abdel-Hamid, BJ Byrne, AM Connolly, P Heydemann, ... Journal of neuromuscular diseases 9 (1), 39-52, 2022 | 30 | 2022 |
