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RB Hufnagel

First name:
RB
Last name:
Hufnagel
Hufnagel, R., Zimmerman, S., Krueger, L., Bender, P., Ahmed, Z., & Saal, H. (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
Abrams, A., Hufnagel, R., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M., … Dallman, J. (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
Hufnagel, R., Arno, G., Hein, N., Hersheson, J., Prasad, M., Anderson, Y., … Ahmed, Z. (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
Ahmed, M., Sethna, S., Krueger, L., Yang, M., & Hufnagel, R. (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)