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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