Erickson, Robert P.

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Veeramah, K. R., O'Brien, J. E., Meisler, M. H., Cheng, X., Dib-Hajj, S. D., Waxman, S. G., Talwar, D., Girirajan, S., Eichler, E. E., Restifo, L. L., et al. (2012) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 438

The Absence of Mitochondrial Thioredoxin 2 Causes Massive Apoptosis, Exencephaly, and Early Embryonic Lethality in Homozygous Mice

Nonn, L., Williams, R. R., Erickson, R. P., & Powis, G. (2003) · Molecular and Cellular Biology

Redox biology and oxidative stressCell death mechanisms and regulation

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Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome

Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., et al. (2003) · JNCI Journal of the National Cancer Institute

Sarcoma Diagnosis and TreatmentGenomics and Rare Diseases

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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

Berg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S.-H. L., Fong, C.-T., Salamone, J., Freedenberg, D., Hannig, V. L., Prock, L. A., Miller, D. T., et al. (2007) · Genetics in Medicine

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

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Molecular and cytologic studies of Ehlers‐Danlos syndrome type VIII

Biesecker, L. G., Erickson, R. P., Glover, T. W., & Bonadio, J. (1991) · American Journal of Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

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Metabolic studies in a mouse model of hepatorenal tyrosinemia: Absence of perinatal abnormalities

Collins, J. C., Buchanan, D. N., Thoene, J. G., Erickson, R. P., Sklower Brooks, S., & Gluecksohn-Waelsch, S. (1992) · Biochemical and Biophysical Research Communications

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

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