Boehm, Corinne D.
Johns Hopkins University · Johns Hopkins Medicine
3 papers on CoChat
Most cited papers
- Verified
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics
Genomics and Rare DiseasesGenetic Associations and Epidemiology
Cited by 643
- Verified
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 321
- Verified
Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy
Boehm, C. D., Cutting, G. R., Lachtermacher, M. B., Moser, H. W., & Chong, S. S. (1999) · Molecular Genetics and Metabolism
Metabolism and Genetic DisordersLysosomal Storage Disorders Research
Cited by 112
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