Bachmann-Gagescu Group - Publications

ZORA Publication List

Publications

• Bachmann-Gagescu, R., Hisama, F. M., & Yuen, A. L. (2011). Myhre syndrome with ataxia and cerebellar atrophy Clinical Dysmorphology, 20, 156–159. https://doi.org/10.1097/mcd.0b013e3283468043
• Bachmann-Gagescu, R., Mefford, H. C., Cowan, C., Glew, G. M., Hing, A. V., Wallace, S., Bader, P. I., Hamati, A., Reitnauer, P. J., Smith, R., Stockton, D. W., Muhle, H., Helbig, I., Eichler, E. E., Ballif, B. C., Rosenfeld, J., & Tsuchiya, K. D. (2010). Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity Genetics in Medicine, 12, 641–647. https://doi.org/10.1097/gim.0b013e3181ef4286
• Bachmann‐Gagescu, R., Merritt II, J. L., & Hahn, S. H. (2009). A cognitively normal PDH‐deficient 18‐year‐old man carrying the R263G mutation in the PDHA1 gene Journal of Inherited Metabolic Disease, 32, 123–126. https://doi.org/10.1007/s10545-009-1101-4
• Hernandez, R. E., Rikhof, H. A., Bachmann-Gagescu, R., & Moens, C. B. (2004). vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish Development, 131, 4511–4520. https://doi.org/10.1242/dev.01297

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