Instructor in Neurology, Boston Children's Hospital
Neurology
Dr. Omar S. Khwaja, MD
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Dr. Omar S. Khwaja practices Neurology. Doctor Omar S. Khwaja, MD is a published doctor. He has 21 papers published. The most current publication "The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2."
Publications
- Copy number variation plays an important role in clinical Epilepsy.
- Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.
- Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
- Monozygotic twins with trisomy 21 and partial agenesis of the corpus callosum.
- Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
- Translational research: Rett syndrome and tuberous sclerosis complex.
- Spectrum of neurodevelopmental disabilities in children with cerebellar malformations.
- How accurately does current fetal imaging identify posterior fossa anomalies?
- Basilar meningitis associated with ethmoid and sphenoid cephaloceles.
- The role of a clinical score in the assessment of ambiguous genitalia.
- The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.
- Report and abstracts of the First International Workshop on Y Chromosome Mapping 1994. Cambridge, England, April 2-5, 1994.
- A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin.
- Rett syndrome diagnostic criteria: lessons from the Natural History Study.
- Fetal MR imaging evidence of prolonged apparent diffusion coefficient decrease in fetal death.
- Neurodevelopmental outcome of fetuses referred for ventriculomegaly.
- Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric Disorders.
- Pathogenesis of cerebral white matter injury of prematurity.
- A 9-month-old boy with seizures and discrepant urine tryptophan concentrations.
- Clinical severity and quality of life in children and adolescents with Rett syndrome.
Schools
Kigezi International School Of Medicine
Children39s Hospital Boston
Conditions Treated
- Ataxia
- Convulsions
- Epilepsy
- Tic Disorders
Doctors Specialties
- Pediatric Neurology
- Neurology
Accepted Insurances
Education
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Boston Children's Hospital -
School of Clinical Medicine, University of Cambridge
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