| Pathogenesis of cerebral white matter injury of prematurity O Khwaja, JJ Volpe Archives of Disease in Childhood-Fetal and Neonatal Edition 93 (2), F153-F161, 2008 | 815 | 2008 |
| Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA) H Ratni, M Ebeling, J Baird, S Bendels, J Bylund, KS Chen, N Denk, ... Journal of Medicinal Chemistry 61 (15), 6501-6517, 2018 | 404 | 2018 |
| Microdeletion/duplication at 15q13. 2q13. 3 among individuals with features of autism and other neuropsychiatric disorders DT Miller, Y Shen, LA Weiss, J Korn, I Anselm, C Bridgemohan, GF Cox, ... Journal of medical genetics 46 (4), 242-248, 2009 | 386 | 2009 |
| The role of a clinical score in the assessment of ambiguous genitalia SF Ahmed, O Khwaja, IA Hughes BJU international 85 (1), 120-124, 2000 | 257 | 2000 |
| Risdiplam in type 1 spinal muscular atrophy G Baranello, BT Darras, JW Day, N Deconinck, A Klein, R Masson, ... New England Journal of Medicine 384 (10), 915-923, 2021 | 248 | 2021 |
| Progress in understanding and treating SCN2A-mediated disorders SJ Sanders, AJ Campbell, JR Cottrell, RS Moller, FF Wagner, ... Trends in neurosciences 41 (7), 442-456, 2018 | 231 | 2018 |
| Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome OS Khwaja, E Ho, KV Barnes, HM O’Leary, LM Pereira, Y Finkelstein, ... Proceedings of the National Academy of Sciences 111 (12), 4596-4601, 2014 | 216 | 2014 |
| Copy number variation plays an important role in clinical epilepsy H Olson, Y Shen, J Avallone, BR Sheidley, R Pinsky, AM Bergin, GT Berry, ... Annals of neurology 75 (6), 943-958, 2014 | 198 | 2014 |
| Identification and validation of biomarkers for autism spectrum disorders E Loth, W Spooren, LM Ham, MB Isaac, C Auriche-Benichou, ... Nature reviews Drug discovery 15 (1), 70-70, 2016 | 179 | 2016 |
| The Drosophila Developmental Gene Fat Facets Has a Human Homologue in Xp11.4 Which Escapes X-inactivation and Has Related Sequences on Yq11.2 MH Jones, RA Furlong, H Burkin, I Jennifer Chalmers, GM Brown, ... Human molecular genetics 5 (11), 1695-1701, 1996 | 165 | 1996 |
| Rett syndrome diagnostic criteria: lessons from the Natural History Study AK Percy, JL Neul, DG Glaze, KJ Motil, SA Skinner, O Khwaja, HS Lee, ... Annals of neurology 68 (6), 951-955, 2010 | 144 | 2010 |
| Morbidity and medication in a large population of individuals with Down syndrome compared to the general population M Alexander, H Petri, Y Ding, C Wandel, O Khwaja, N Foskett Developmental Medicine & Child Neurology 58 (3), 246-254, 2016 | 142 | 2016 |
| Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls BT Darras, R Masson, M Mazurkiewicz-Bełdzińska, K Rose, H Xiong, ... New England Journal of Medicine 385 (5), 427-435, 2021 | 140 | 2021 |
| Motor, cognitive, and functional declines contribute to a single progressive factor in early HD SA Schobel, G Palermo, P Auinger, JD Long, S Ma, OS Khwaja, ... Neurology 89 (24), 2495-2502, 2017 | 108 | 2017 |
| Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy A Poduri, SS Chopra, EG Neilan, P Christina Elhosary, MA Kurian, ... Epilepsia 53 (8), e146-e150, 2012 | 104 | 2012 |
| A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier S Sturm, A Günther, B Jaber, P Jordan, N Al Kotbi, N Parkar, Y Cleary, ... British journal of clinical pharmacology 85 (1), 181-193, 2019 | 100 | 2019 |
| Spectrum of neurodevelopmental disabilities in children with cerebellar malformations MEVE BOLDUC, AJ Du Plessis, N Sullivan, OS Khwaja, XUN Zhang, ... Developmental Medicine & Child Neurology 53 (5), 409-416, 2011 | 100 | 2011 |
| Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled … E Mercuri, N Deconinck, ES Mazzone, A Nascimento, M Oskoui, K Saito, ... The Lancet Neurology 21 (1), 42-52, 2022 | 97 | 2022 |
| How accurately does current fetal imaging identify posterior fossa anomalies? C Limperopoulos, RL Robertson Jr, OS Khwaja, CD Robson, JA Estroff, ... AJR. American journal of roentgenology 190 (6), 1637, 2008 | 96 | 2008 |
| Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome HE Olson, D Tambunan, C LaCoursiere, M Goldenberg, R Pinsky, ... American journal of medical genetics Part A 167 (9), 2017-2025, 2015 | 95 | 2015 |
