Follow
Omar Khwaja
Omar Khwaja
Voyager Therapeutics
Verified email at vygr.com
Title
Cited by
Cited by
Year
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
8322008
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
4352018
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
3852009
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
2902021
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
2722000
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
2492018
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
2212014
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
2062014
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
1832016
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
1732021
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
1721996
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
1502016
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
1502010
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
1252022
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
1192017
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
1082019
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
1072012
A phase 2 clinical trial of a vasopressin V1a receptor antagonist shows improved adaptive behaviors in men with autism spectrum disorder
F Bolognani, M del Valle Rubido, L Squassante, C Wandel, M Derks, ...
Science translational medicine 11 (491), eaat7838, 2019
1042019
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
1032011
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
1022015
The system can't perform the operation now. Try again later.
Articles 1–20