RB Hufnagel

First name:
RB
Last name:
Hufnagel
Hufnagel, R. B., Zimmerman, S. L., Krueger, L. A., Bender, P. L., Ahmed, Z. M., & Saal, H. M. (2016). A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. American Journal Of Medical Genetics. Part A, 170A(2), 487-491. https://doi.org/10.1002/ajmg.a.37441
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Abrams, A. J., Hufnagel, R. B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M. A., et al. (2015). Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nature Genetics, 47(8), 926-32. https://doi.org/10.1038/ng.3354
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Hufnagel, R. B., Arno, G., Hein, N. D., Hersheson, J., Prasad, M., Anderson, Y., et al. (2015). Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. Journal Of Medical Genetics, 52(2), 85-94. https://doi.org/10.1136/jmedgenet-2014-102856
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Ahmed, M. R., Sethna, S., Krueger, L. A., Yang, M. B., & Hufnagel, R. B. (2022). Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1. Genes, 13(3). https://doi.org/10.3390/genes13030411 (Original work published 2022)
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