Dr. Stuart K. Shapira MD, PHD
Geneticist | Clinical Genetics (M.D.)
1600 Clifton Rd. , Mailstop E-87 Atlanta GA, 30333About
Dr. Stuart Shapira practices Genetic Medicine in Atlanta, GA. As a geneticist, Dr. Shapira performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Shapira carries out studies, tests, and counsels patients with genetic diseases.
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.
- Monosomy 1p36.
- Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.
- Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.
- Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.
- Genetic risks to the mother and the infant: assessment, counseling, and management.
- Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.
- Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects.
- Long-term speech and language developmental issues among children with Duarte galactosemia.
- Prevalence of developmental disabilities and receipt of special education services among children with an inborn error of metabolism.
- Association of paternal age and risk for major congenital anomalies from the National Birth Defects Prevention Study, 1997 to 2004.
- Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States.
- Use of special education services among children with and without congenital gastrointestinal anomalies.
- Letter to the editor: Ventricular septal defects and the National Birth Defects Prevention Study.
- Evaluation of immunization rates and safety among children with inborn errors of metabolism.
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