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Rolf Stottmann

Assistant Professor

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1998 …2024

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  • A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

    Wilderman, A., D’haene, E., Baetens, M., Yankee, T. N., Winchester, E. W., Glidden, N., Roets, E., Van Dorpe, J., Janssens, S., Miller, D. E., Galey, M., Brown, K. M., Stottmann, R. W., Vergult, S., Weaver, K. N., Brugmann, S. A., Cox, T. C. & Cotney, J., Dec 2024, In: Nature Communications. 15, 1, 136.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • The society for craniofacial genetics and developmental biology 46th annual meeting

    Brugmann, S. A., Clouthier, D. E., Fantauzzo, K. A., Harris, M. P., Jeong, J., Saint-Jeannet, J. P., Stottmann, R. W. & Merrill, A. E., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

    Research output: Contribution to journal › Article › peer-review

  • A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

    Strong, A., Rao, S., von Hardenberg, S., Li, D., Cox, L. L., Lee, P. C., Zhang, L. Q., Awotoye, W., Diamond, T., Gold, J., Gooch, C., Gowans, L. J. J., Hakonarson, H., Hing, A., Loomes, K., Martin, N., Marazita, M. L., Mononen, T., Piccoli, D., Pfundt, R., & 18 othersRaskin, S., Scherer, S. W., Sobriera, N., Vaccaro, C., Wang, X., Watson, D., Weksberg, R., Bhoj, E., Murray, J. C., Lidral, A. C., Butali, A., Buckley, M. F., Roscioli, T., Koolen, D. A., Seaver, L. H., Prows, C. A., Stottmann, R. W. & Cox, T. C., May 2023, In: American Journal of Medical Genetics, Part A. 191, 5, p. 1227-1239 13 p.

    Research output: Contribution to journal › Article › peer-review

    1 Scopus citations

  • ARF1 -related disorder: Phenotypic and molecular spectrum

    De Sainte Agathe, J. M., Pode-Shakked, B., Naudion, S., Michaud, V., Arveiler, B., Fergelot, P., Delmas, J., Keren, B., Poirsier, C., Alkuraya, F. S., Tabarki, B., Bend, E., Davis, K., Bebin, M., Thompson, M. L., Bryant, E. M., Wagner, M., Hannibal, I., Lenberg, J., Krenn, M., & 29 othersWigby, K. M., Friedman, J. R., Iascone, M., Cereda, A., Miao, T., Leguern, E., Argilli, E., Sherr, E., Caluseriu, O., Tidwell, T., Bayrak-Toydemir, P., Hagedorn, C., Brugger, M., Vill, K., Morneau-Jacob, F. D., Chung, W., Weaver, K. N., Owens, J. W., Husami, A., Chaudhari, B. P., Stone, B. S., Burns, K., Li, R., De Lange, I. M., Biehler, M., Ginglinger, E., Gérard, B., Stottmann, R. W. & Trimouille, A., Oct 1 2023, In: Journal of Medical Genetics. 60, 10, p. 999-1005 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    2 Scopus citations

  • POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

    Smallwood, K., Watt, K. E. N., Ide, S., Baltrunaite, K., Brunswick, C., Inskeep, K., Capannari, C., Adam, M. P., Begtrup, A., Bertola, D. R., Demmer, L., Demo, E., Devinsky, O., Gallagher, E. R., Guillen Sacoto, M. J., Jech, R., Keren, B., Kussmann, J., Ladda, R., Lansdon, L. A., & 25 othersLunke, S., Mardy, A., McWalters, K., Person, R., Raiti, L., Saitoh, N., Saunders, C. J., Schnur, R., Skorvanek, M., Sell, S. L., Slavotinek, A., Sullivan, B. R., Stark, Z., Symonds, J. D., Wenger, T., Weber, S., Whalen, S., White, S. M., Winkelmann, J., Zech, M., Zeidler, S., Maeshima, K., Stottmann, R. W., Trainor, P. A. & Weaver, K. N., May 4 2023, In: American Journal of Human Genetics. 110, 5, p. 809-825 17 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    4 Scopus citations
View all 65 Research outputs