Lisa L. Baumbach-Reardon
Affiliations: | University of Miami, Coral Gables, FL |
Area:
Molecular Biology, GeneticsGoogle:
"Lisa Baumbach-Reardon"
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Publications
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Balak CD, Hunter JM, Ahearn ME, et al. (2017) Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy. F1000research. 6: 1636 |
Hunter JM, Kiefer J, Balak CD, et al. (2015) Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. American Journal of Medical Genetics. Part A. 167: 931-73 |
Hoosien M, Ahearn ME, Myerburg RJ, et al. (2013) Dysfunctional potassium channel subunit interaction as a novel mechanism of long QT syndrome. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 10: 728-37 |
Montenegro G, Rebelo AP, Connell J, et al. (2012) Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. The Journal of Clinical Investigation. 122: 538-44 |
Ramser J, Ahearn ME, Lenski C, et al. (2008) Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. American Journal of Human Genetics. 82: 188-93 |
Dressman D, Ahearn ME, Yariz KO, et al. (2007) X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 52-60 |
Baumbach-Reardon L, Gayol L, Scholl T, et al. (2001) Completed BRCA1/BRCA2 mutation analysis reveals a low rate of germline mutation in at-risk African American families Nature Genetics. 27: 41-42 |