Associate Professor, Pediatrics, University of Missouri, Kansas City School of Medicine
Medical Genetics
Dr. Laurie D. Smith, MD
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Laurie Smith practices Medical Genetics. She researched medicine at Oregon Health & Science University School of Medicine. She has 1 awards "Fellow (FAAP)". Laurie D. Smith is a published doctor as well. She has 10 publications published. The latest was: Rapid whole genome sequencing and precision neonatology.
Publications
- Rapid whole genome sequencing and precision neonatology.
- MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
- Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A2 γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse.
- Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
- Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
- 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
- Determination of benzoic acid in serum or plasma by gas chromatography-mass spectrometry (GC/MS).
- Ophthalmologic manifestations of systemic disease.
- Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.
Schools
Oregon Health Sciences University
Or Health Science University Hospital
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Fellow (FAAP)
Education
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Oregon Health & Science University -
Oregon Health & Science University School of Medicine
Hospital
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Children's Mercy Hospitals and Clinics
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