Omar Khwaja

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( <i>SMN2</i> ) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)

Hasane Ratni, Martin Ebeling, John D. Baird et al. · Journal of Medicinal Chemistry · 2018 · 520 citations · Full text

Medicine, Neurology, Pharmacology +14

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

David T. Miller, Yiping Shen, Lauren A. Weiss et al. · Journal of Medical Genetics · 2008 · 430 citations

Life Sciences, Genetics, Molecular Genetics +17

Risdiplam in Type 1 Spinal Muscular Atrophy

Giovanni Baranello, Basil T. Darras, Nicolas Deconinck et al. · New England Journal of Medicine · 2021 · 419 citations · Full text

Medicine, Neurology, Neuroscience +13

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Basil T. Darras, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska et al. · New England Journal of Medicine · 2021 · 274 citations · Full text

Medicine, Neurology, Pediatrics +17

The role of a clinical score in the assessment of ambiguous genitalia

S. Faisal Ahmed, Omar Khwaja, Ieuan A. Hughes · British Journal of Urology · 2000 · 260 citations

Medicine, Child Health, Pediatrics +10