Laura Davis Keppen
Sanford USD Medical Center(US)
Publications by Year
Research Areas
Folate and B Vitamins Research, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies(1998)491 cited
- → Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial(1997)136 cited
- Etiological heterogeneity in X-linked spastic paraplegia.(1987)
- → Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia(1996)67 cited
- → Zinc Deficiency Acts as a Co-Teratogen with Alcohol in Fetal Alcohol Syndrome(1985)63 cited
- → Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations(2007)56 cited
- → Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency(2007)55 cited
- → Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities(2005)43 cited
- → Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening(2006)37 cited
- → FISH detection of Wolf‐Hirschhorn syndorem: Exclusion of D4F26 as critical site(1994)29 cited