| 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 | 670 | 2008 |
| 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 | 335 | 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 | 166 | 2000 |
| 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 | 156 | 1996 |
| 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 | 149 | 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 | 148 | 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 | 110 | 2016 |
| 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 | 106 | 2010 |
| 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 | 90 | 2012 |
| 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 | 86 | 2018 |
| 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 | 85 | 2018 |
| 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 | 82 | 2016 |
| How accurately does current fetal imaging identify posterior fossa anomalies? C Limperopoulos, RL Robertson Jr, OS Khwaja, CD Robson, JA Estroff, ... American Journal of Roentgenology 190 (6), 1637-1643, 2008 | 82 | 2008 |
| 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 | 81 | 2011 |
| 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 | 74 | 2015 |
| A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin MH Jones, OSA Khwaja, H Briggs, B Lambson, PM Davey, J Chalmers, ... Genomics 24 (2), 266-275, 1994 | 71 | 1994 |
| Neurodevelopmental outcome of fetuses referred for ventriculomegaly M Beeghly, J Ware, J Soul, A Du Plessis, O Khwaja, GM Senapati, ... Ultrasound in Obstetrics and Gynecology: The Official Journal of the …, 2010 | 67 | 2010 |
| Assessment of cognitive scales to examine memory, executive function and language in individuals with Down syndrome: Implications of a 6-month observational study X Liogier d'Ardhuy, JO Edgin, C Bouis, S de Sola, C Goeldner, P Kishnani, ... Frontiers in Behavioral Neuroscience 9, 300, 2015 | 56 | 2015 |
| Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings M Touma, M Joshi, MC Connolly, P Ellen Grant, AR Hansen, O Khwaja, ... Epilepsia 54 (5), e81-e85, 2013 | 50 | 2013 |
| Clinical severity and quality of life in children and adolescents with Rett syndrome JB Lane, HS Lee, LW Smith, P Cheng, AK Percy, DG Glaze, JL Neul, ... Neurology 77 (20), 1812-1818, 2011 | 48 | 2011 |
