Lisa L. Baumbach-Reardon - Publications

University of Miami, Coral Gables, FL 
Molecular Biology, Genetics

7 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2017 Balak CD, Hunter JM, Ahearn ME, Wiley D, D'urso G, Baumbach-Reardon L. Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy. F1000research. 6: 1636. PMID 29034082 DOI: 10.12688/F1000Research.11878.1  0.407
2015 Hunter JM, Kiefer J, Balak CD, Jooma S, Ahearn ME, Hall JG, Baumbach-Reardon L. 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. PMID 25790323 DOI: 10.1002/ajmg.a.36934  0.439
2013 Hoosien M, Ahearn ME, Myerburg RJ, Pham TV, Miller TE, Smets MJ, Baumbach-Reardon L, Young ML, Farooq A, Bishopric NH. 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. PMID 23291057 DOI: 10.1016/J.Hrthm.2012.12.033  0.365
2012 Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, et al. 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. PMID 22232211 DOI: 10.1172/Jci60560  0.406
2008 Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. American Journal of Human Genetics. 82: 188-93. PMID 18179898 DOI: 10.1016/J.Ajhg.2007.09.009  0.466
2007 Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martínez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L. 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. PMID 17224690 DOI: 10.1097/Gim.0B013E31802D8353  0.46
2001 Baumbach-Reardon L, Gayol L, Scholl T, Basterrechea H, Smith S, Arena JF. Completed BRCA1/BRCA2 mutation analysis reveals a low rate of germline mutation in at-risk African American families Nature Genetics. 27: 41-42. DOI: 10.1038/86998  0.43
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